Array CGH Analysis and Developmental Delay: A Diagnostic Tool for Neurologists.

Science.gov (United States)

Cameron, F; Xu, J; Jung, J; Prasad, C

2013-11-01

Developmental delay occurs in 1-3% of the population, with unknown etiology in approximately 50% of cases. Initial genetic work up for developmental delay previously included chromosome analysis and subtelomeric FISH (fluorescent in situ hybridization). Array Comparative Genomic Hybridization (aCGH) has emerged as a tool to detect genetic copy number changes and uniparental disomy and is the most sensitive test in providing etiological diagnosis in developmental delay. aCGH allows for the provision of prognosis and recurrence risks, improves access to resources, helps limit further investigations and may alter medical management in many cases. aCGH has led to the delineation of novel genetic syndromes associated with developmental delay. An illustrative case of a 31-year-old man with long standing global developmental delay and recently diagnosed 4q21 deletion syndrome with a deletion of 20.8 Mb genomic interval is provided. aCGH is now recommended as a first line test in children and adults with undiagnosed developmental delay and congenital anomalies. Puce d'hybridation génomique comparative et retard de développement : un outil diagnostic pour les neurologues. Le retard de développement survient chez 1 à 3% de la population et son étiologie est inconnue chez à peu près 50% des cas. L'évaluation génétique initiale pour un retard de développement incluait antérieurement une analyse chromosomique et une analyse par FISH (hybridation in situ en fluorescence) de régions subtélomériques. La puce d'hybridation génomique comparative (CGHa) est devenue un outil de détection des changements du nombre de copies géniques ainsi que de la disomie uniparentale et elle est le test le plus sensible pour fournir un diagnostic étiologique dans le retard de développement. Le CGHa permet d'offrir un pronostic et un risque de récurrence, améliore l'accès aux ressources, aide à limiter les évaluations et peut modifier le traitement médical dans bien des cas

BAC CGH-array identified specific small-scale genomic imbalances in diploid DMBA-induced rat mammary tumors

International Nuclear Information System (INIS)

Samuelson, Emma; Karlsson, Sara; Partheen, Karolina; Nilsson, Staffan; Szpirer, Claude; Behboudi, Afrouz

2012-01-01

Development of breast cancer is a multistage process influenced by hormonal and environmental factors as well as by genetic background. The search for genes underlying this malignancy has recently been highly productive, but the etiology behind this complex disease is still not understood. In studies using animal cancer models, heterogeneity of the genetic background and environmental factors is reduced and thus analysis and identification of genetic aberrations in tumors may become easier. To identify chromosomal regions potentially involved in the initiation and progression of mammary cancer, in the present work we subjected a subset of experimental mammary tumors to cytogenetic and molecular genetic analysis. Mammary tumors were induced with DMBA (7,12-dimethylbenz[a]anthrazene) in female rats from the susceptible SPRD-Cu3 strain and from crosses and backcrosses between this strain and the resistant WKY strain. We first produced a general overview of chromosomal aberrations in the tumors using conventional kartyotyping (G-banding) and Comparative Genome Hybridization (CGH) analyses. Particular chromosomal changes were then analyzed in more details using an in-house developed BAC (bacterial artificial chromosome) CGH-array platform. Tumors appeared to be diploid by conventional karyotyping, however several sub-microscopic chromosome gains or losses in the tumor material were identified by BAC CGH-array analysis. An oncogenetic tree analysis based on the BAC CGH-array data suggested gain of rat chromosome (RNO) band 12q11, loss of RNO5q32 or RNO6q21 as the earliest events in the development of these mammary tumors. Some of the identified changes appear to be more specific for DMBA-induced mammary tumors and some are similar to those previously reported in ACI rat model for estradiol-induced mammary tumors. The later group of changes is more interesting, since they may represent anomalies that involve genes with a critical role in mammary tumor development. Genetic

Combined use of expression and CGH arrays pinpoints novel candidate genes in Ewing sarcoma family of tumors

International Nuclear Information System (INIS)

Savola, Suvi; Knuutila, Sakari; Klami, Arto; Tripathi, Abhishek; Niini, Tarja; Serra, Massimo; Picci, Piero; Kaski, Samuel; Zambelli, Diana; Scotlandi, Katia

2009-01-01

Ewing sarcoma family of tumors (ESFT), characterized by t(11;22)(q24;q12), is one of the most common tumors of bone in children and young adults. In addition to EWS/FLI1 gene fusion, copy number changes are known to be significant for the underlying neoplastic development of ESFT and for patient outcome. Our genome-wide high-resolution analysis aspired to pinpoint genomic regions of highest interest and possible target genes in these areas. Array comparative genomic hybridization (CGH) and expression arrays were used to screen for copy number alterations and expression changes in ESFT patient samples. A total of 31 ESFT samples were analyzed by aCGH and in 16 patients DNA and RNA level data, created by expression arrays, was integrated. Time of the follow-up of these patients was 5–192 months. Clinical outcome was statistically evaluated by Kaplan-Meier/Logrank methods and RT-PCR was applied on 42 patient samples to study the gene of the highest interest. Copy number changes were detected in 87% of the cases. The most recurrent copy number changes were gains at 1q, 2, 8, and 12, and losses at 9p and 16q. Cumulative event free survival (ESFT) and overall survival (OS) were significantly better (P < 0.05) for primary tumors with three or less copy number changes than for tumors with higher number of copy number aberrations. In three samples copy number imbalances were detected in chromosomes 11 and 22 affecting the FLI1 and EWSR1 loci, suggesting that an unbalanced t(11;22) and subsequent duplication of the derivative chromosome harboring fusion gene is a common event in ESFT. Further, amplifications on chromosomes 20 and 22 seen in one patient sample suggest a novel translocation type between EWSR1 and an unidentified fusion partner at 20q. In total 20 novel ESFT associated putative oncogenes and tumor suppressor genes were found in the integration analysis of array CGH and expression data. Quantitative RT-PCR to study the expression levels of the most interesting

CGHregions: Dimension Reduction for Array CGH Data with Minimal Information Loss

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Mark A. van de Wiel

2007-01-01

Full Text Available An algorithm to reduce multi-sample array CGH data from thousands of clones to tens or hundreds of clone regions is introduced. This reduction of the data is performed such that little information is lost, which is possible due to the high dependencies between neighboring clones. The algorithm is explained using a small example. The potential beneficial effects of the algorithm for downstream analysis are illustrated by re-analysis of previously published colorectal cancer data. Using multiple testing corrections suitable for these data, we provide statistical evidence for genomic differences on several clone regions between MSI+ and CIN+ tumors. The algorithm, named CGHregions, is available as an easy-to-use script in R.

CGHnormaliter: a bioconductor package for normalization of array CGH data with many CNAs.

NARCIS (Netherlands)

van Houte, B.P.P.; Binsl, T.W.; Hettling, H.; Heringa, J.

2010-01-01

Summary: CGHnormaliter is a package for normalization of array comparative genomic hybridization (aCGH) data. It uses an iterative procedure that effectively eliminates the influence of imbalanced copy numbers. This leads to a more reliable assessment of copy number alterations (CNAs). CGHnormaliter

A robust method to analyze copy number alterations of less than 100 kb in single cells using oligonucleotide array CGH.

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Birte Möhlendick

Full Text Available Comprehensive genome wide analyses of single cells became increasingly important in cancer research, but remain to be a technically challenging task. Here, we provide a protocol for array comparative genomic hybridization (aCGH of single cells. The protocol is based on an established adapter-linker PCR (WGAM and allowed us to detect copy number alterations as small as 56 kb in single cells. In addition we report on factors influencing the success of single cell aCGH downstream of the amplification method, including the characteristics of the reference DNA, the labeling technique, the amount of input DNA, reamplification, the aCGH resolution, and data analysis. In comparison with two other commercially available non-linear single cell amplification methods, WGAM showed a very good performance in aCGH experiments. Finally, we demonstrate that cancer cells that were processed and identified by the CellSearch® System and that were subsequently isolated from the CellSearch® cartridge as single cells by fluorescence activated cell sorting (FACS could be successfully analyzed using our WGAM-aCGH protocol. We believe that even in the era of next-generation sequencing, our single cell aCGH protocol will be a useful and (cost- effective approach to study copy number alterations in single cells at resolution comparable to those reported currently for single cell digital karyotyping based on next generation sequencing data.

The development of a mini-array for estimating the disease state of gastric adenocarcinoma by array CGH

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Oga Atsunori

2008-12-01

Full Text Available Abstract Background The treatment strategy usually depends on the disease state in the individual patient. However, it is difficult to estimate the disease state before treatment in many patients. The purpose of this study was to develop a BAC (bacterial artificial chromosome mini-array allowing for the estimation of node metastasis, liver metastasis, peritoneal dissemination and the depth of tumor invasion in gastric cancers. Methods Initially, the DNA copy number aberrations (DCNAs were analyzed by array-based comparative genomic hybridization (aCGH in 83 gastric adenocarcinomas as a training-sample set. Next, two independent analytical methods were applied to the aCGH data to identify the BAC clones with DNA copy number aberrations that were linked with the disease states. One of the methods, a decision-tree model classifier, identified 6, 4, 4, 4, and 7 clones for estimating lymph node metastasis, liver metastasis, peritoneal dissemination, depth of tumor invasion, and histological type, respectively. In the other method, a clone-by-clone comparison of the frequency of the DNA copy number aberrations selected 26 clones to estimate the disease states. Results By spotting these 50 clones together with 26 frequently or rarely involved clones and 62 reference clones, a mini-array was made to estimate the above parameters, and the diagnostic performance of the mini-array was evaluated for an independent set of 30 gastric cancers (blinded – sample set. In comparison to the clinicopathological features, the overall accuracy was 66.7% for node metastasis, 86.7% for liver metastasis, 86.7% for peritoneal dissemination, and 96.7% for depth of tumor invasion. The intratumoral heterogeneity barely affected the diagnostic performance of the mini-array. Conclusion These results suggest that the mini-array makes it possible to determine an optimal treatment for each of the patients with gastric adenocarcinoma.

The development of a mini-array for estimating the disease state of gastric adenocarcinoma by array CGH

International Nuclear Information System (INIS)

Furuya, Tomoko; Uchiyama, Tetsuji; Adachi, Atsushi; Okada, Takae; Nakao, Motonao; Oga, Atsunori; Yang, Song-Ju; Kawauchi, Shigeto; Sasaki, Kohsuke

2008-01-01

The treatment strategy usually depends on the disease state in the individual patient. However, it is difficult to estimate the disease state before treatment in many patients. The purpose of this study was to develop a BAC (bacterial artificial chromosome) mini-array allowing for the estimation of node metastasis, liver metastasis, peritoneal dissemination and the depth of tumor invasion in gastric cancers. Initially, the DNA copy number aberrations (DCNAs) were analyzed by array-based comparative genomic hybridization (aCGH) in 83 gastric adenocarcinomas as a training-sample set. Next, two independent analytical methods were applied to the aCGH data to identify the BAC clones with DNA copy number aberrations that were linked with the disease states. One of the methods, a decision-tree model classifier, identified 6, 4, 4, 4, and 7 clones for estimating lymph node metastasis, liver metastasis, peritoneal dissemination, depth of tumor invasion, and histological type, respectively. In the other method, a clone-by-clone comparison of the frequency of the DNA copy number aberrations selected 26 clones to estimate the disease states. By spotting these 50 clones together with 26 frequently or rarely involved clones and 62 reference clones, a mini-array was made to estimate the above parameters, and the diagnostic performance of the mini-array was evaluated for an independent set of 30 gastric cancers (blinded – sample set). In comparison to the clinicopathological features, the overall accuracy was 66.7% for node metastasis, 86.7% for liver metastasis, 86.7% for peritoneal dissemination, and 96.7% for depth of tumor invasion. The intratumoral heterogeneity barely affected the diagnostic performance of the mini-array. These results suggest that the mini-array makes it possible to determine an optimal treatment for each of the patients with gastric adenocarcinoma

ADaCGH: A parallelized web-based application and R package for the analysis of aCGH data.

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Ramón Díaz-Uriarte

Full Text Available BACKGROUND: Copy number alterations (CNAs in genomic DNA have been associated with complex human diseases, including cancer. One of the most common techniques to detect CNAs is array-based comparative genomic hybridization (aCGH. The availability of aCGH platforms and the need for identification of CNAs has resulted in a wealth of methodological studies. METHODOLOGY/PRINCIPAL FINDINGS: ADaCGH is an R package and a web-based application for the analysis of aCGH data. It implements eight methods for detection of CNAs, gains and losses of genomic DNA, including all of the best performing ones from two recent reviews (CBS, GLAD, CGHseg, HMM. For improved speed, we use parallel computing (via MPI. Additional information (GO terms, PubMed citations, KEGG and Reactome pathways is available for individual genes, and for sets of genes with altered copy numbers. CONCLUSIONS/SIGNIFICANCE: ADACGH represents a qualitative increase in the standards of these types of applications: a all of the best performing algorithms are included, not just one or two; b we do not limit ourselves to providing a thin layer of CGI on top of existing BioConductor packages, but instead carefully use parallelization, examining different schemes, and are able to achieve significant decreases in user waiting time (factors up to 45x; c we have added functionality not currently available in some methods, to adapt to recent recommendations (e.g., merging of segmentation results in wavelet-based and CGHseg algorithms; d we incorporate redundancy, fault-tolerance and checkpointing, which are unique among web-based, parallelized applications; e all of the code is available under open source licenses, allowing to build upon, copy, and adapt our code for other software projects.

Different Array CGH profiles within hereditary breast cancer tumors associated to BRCA1 expression and overall survival

International Nuclear Information System (INIS)

Alvarez, Carolina; Aravena, Andrés; Tapia, Teresa; Rozenblum, Ester; Solís, Luisa; Corvalán, Alejandro; Camus, Mauricio; Alvarez, Manuel; Munroe, David; Maass, Alejandro; Carvallo, Pilar

2016-01-01

Array CGH analysis of breast tumors has contributed to the identification of different genomic profiles in these tumors. Loss of DNA repair by BRCA1 functional deficiency in breast cancer has been proposed as a relevant contribution to breast cancer progression for tumors with no germline mutation. Identifying the genomic alterations taking place in BRCA1 not expressing tumors will lead us to a better understanding of the cellular functions affected in this heterogeneous disease. Moreover, specific genomic alterations may contribute to the identification of potential therapeutic targets and offer a more personalized treatment to breast cancer patients. Forty seven tumors from hereditary breast cancer cases, previously analyzed for BRCA1 expression, and screened for germline BRCA1 and 2 mutations, were analyzed by Array based Comparative Genomic Hybridization (aCGH) using Agilent 4x44K arrays. Overall survival was established for tumors in different clusters using Log-rank (Mantel-Cox) Test. Gene lists obtained from aCGH analysis were analyzed for Gene Ontology enrichment using GOrilla and DAVID tools. Genomic profiling of the tumors showed specific alterations associated to BRCA1 or 2 mutation status, and BRCA1 expression in the tumors, affecting relevant cellular processes. Similar cellular functions were found affected in BRCA1 not expressing and BRCA1 or 2 mutated tumors. Hierarchical clustering classified hereditary breast tumors in four major, groups according to the type and amount of genomic alterations, showing one group with a significantly poor overall survival (p = 0.0221). Within this cluster, deletion of PLEKHO1, GDF11, DARC, DAG1 and CD63 may be associated to the worse outcome of the patients. These results support the fact that BRCA1 lack of expression in tumors should be used as a marker for BRCAness and to select these patients for synthetic lethality approaches such as treatment with PARP inhibitors. In addition, the identification of specific

A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH

DEFF Research Database (Denmark)

Becher, Naja; Gjørup, Vibike; Christensen, Rikke

2012-01-01

A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH......A 91 kb microdeletion at Xq26.2 involving the GPC3 gene in a female fetus with Simpson-Golabi-Behmel syndrome detected by prenatal arrayCGH...

Genomic analysis of CD8+ NK/T cell line, ‘SRIK-NKL’, with array-based CGH (aCGH), SKY/FISH and molecular mapping

Science.gov (United States)

Rossi, Michael; LaDuca, Jeff; Cowell, John; Srivastava, Bejai I.S.; Matsui, Sei-ichi

2010-01-01

We performed aCGH, SKY /FISH, molecular mapping and expression analyses on a permanent CD8+ NK/T cell line, ‘SRIK-NKL’ established from a lymphoma (ALL) patient, in attempt to define the fundamental genetic profile of its unique NK phenotypes. aCGH revealed hemizygous deletion of 6p containing genes responsible for hematopoietic functions. The SKY demonstrated that a constitutive reciprocal translocation, rcpt(5;14)(p13.2;q11) is a stable marker. Using somatic hybrids containing der(5) derived from SRIK-NKL, we found that the breakpoint in one homologue of no. 5 is located upstream of IL7R and also that the breakpoint in no. 14 is located within TRA@. The FISH analysis using BAC which contains TRA@ and its flanking region further revealed a ~231 kb deletion within 14q11 in the der(5) but not in the normal homologue of no. 14. The RT-PCR analysis detected mRNA for TRA@ transcripts which were extending across, but not including, the deleted region. IL7R was detected at least at mRNA levels. These findings were consistent with the immunological findings that TRA@ and IL7R are both expressed at mRNA levels and TRA@ at cytoplasmic protein levels in SRIK-NKL cells. In addition to rept(5;14), aCGH identified novel copy number abnormalities suggesting that the unique phenotype of the SRIK-NKL cell line is not solely due to the TRA@ rearrangement. These findings provide supportive evidence for the notion that SRIK-NKL cells may be useful for studying not only the function of NK cells but also genetic deregulations associated with leukemiogenesis. PMID:17640729

Integrated high-resolution array CGH and SKY analysis of homozygous deletions and other genomic alterations present in malignant mesothelioma cell lines.

Science.gov (United States)

Klorin, Geula; Rozenblum, Ester; Glebov, Oleg; Walker, Robert L; Park, Yoonsoo; Meltzer, Paul S; Kirsch, Ilan R; Kaye, Frederic J; Roschke, Anna V

2013-05-01

High-resolution oligonucleotide array comparative genomic hybridization (aCGH) and spectral karyotyping (SKY) were applied to a panel of malignant mesothelioma (MMt) cell lines. SKY has not been applied to MMt before, and complete karyotypes are reported based on the integration of SKY and aCGH results. A whole genome search for homozygous deletions (HDs) produced the largest set of recurrent and non-recurrent HDs for MMt (52 recurrent HDs in 10 genomic regions; 36 non-recurrent HDs). For the first time, LINGO2, RBFOX1/A2BP1, RPL29, DUSP7, and CCSER1/FAM190A were found to be homozygously deleted in MMt, and some of these genes could be new tumor suppressor genes for MMt. Integration of SKY and aCGH data allowed reconstruction of chromosomal rearrangements that led to the formation of HDs. Our data imply that only with acquisition of structural and/or numerical karyotypic instability can MMt cells attain a complete loss of tumor suppressor genes located in 9p21.3, which is the most frequently homozygously deleted region. Tetraploidization is a late event in the karyotypic progression of MMt cells, after HDs in the 9p21.3 region have already been acquired. Published by Elsevier Inc.

Improved analysis of bacterial CGH data beyond the log-ratio paradigm

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Aakra Ågot

2009-03-01

Full Text Available Abstract Background Existing methods for analyzing bacterial CGH data from two-color arrays are based on log-ratios only, a paradigm inherited from expression studies. We propose an alternative approach, where microarray signals are used in a different way and sequence identity is predicted using a supervised learning approach. Results A data set containing 32 hybridizations of sequenced versus sequenced genomes have been used to test and compare methods. A ROC-analysis has been performed to illustrate the ability to rank probes with respect to Present/Absent calls. Classification into Present and Absent is compared with that of a gaussian mixture model. Conclusion The results indicate our proposed method is an improvement of existing methods with respect to ranking and classification of probes, especially for multi-genome arrays.

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH.

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Neill, Nicholas J; Ballif, Blake C; Lamb, Allen N; Parikh, Sumit; Ravnan, J Britt; Schultz, Roger A; Torchia, Beth S; Rosenfeld, Jill A; Shaffer, Lisa G

2011-04-01

Insertions occur when a segment of one chromosome is translocated and inserted into a new region of the same chromosome or a non-homologous chromosome. We report 71 cases with unbalanced insertions identified using array CGH and FISH in 4909 cases referred to our laboratory for array CGH and found to have copy-number abnormalities. Although the majority of insertions were non-recurrent, several recurrent unbalanced insertions were detected, including three der(Y)ins(Y;18)(q?11.2;p11.32p11.32)pat inherited from parents carrying an unbalanced insertion. The clinical significance of these recurrent rearrangements is unclear, although the small size, limited gene content, and inheritance pattern of each suggests that the phenotypic consequences may be benign. Cryptic, submicroscopic duplications were observed at or near the insertion sites in two patients, further confounding the clinical interpretation of these insertions. Using FISH, linear amplification, and array CGH, we identified a 126-kb duplicated region from 19p13.3 inserted into MECP2 at Xq28 in a patient with symptoms of Rett syndrome. Our results demonstrate that although the interpretation of most non-recurrent insertions is unclear without high-resolution insertion site characterization, the potential for an otherwise benign duplication to result in a clinically relevant outcome through the disruption of a gene necessitates the use of FISH to determine whether copy-number gains detected by array CGH represent tandem duplications or unbalanced insertions. Further follow-up testing using techniques such as linear amplification or sequencing should be used to determine gene involvement at the insertion site after FISH has identified the presence of an insertion.

High-resolution array CGH clarifies events occurring on 8p in carcinogenesis

International Nuclear Information System (INIS)

Cooke, Susanna L; Pole, Jessica CM; Chin, Suet-Feung; Ellis, Ian O; Caldas, Carlos; Edwards, Paul AW

2008-01-01

Rearrangement of the short arm of chromosome 8 (8p) is very common in epithelial cancers such as breast cancer. Usually there is an unbalanced translocation breakpoint in 8p12 (29.7 Mb – 38.5 Mb) with loss of distal 8p, sometimes with proximal amplification of 8p11-12. Rearrangements in 8p11-12 have been investigated using high-resolution array CGH, but the first 30 Mb of 8p are less well characterised, although this region contains several proposed tumour suppressor genes. We analysed the whole of 8p by array CGH at tiling-path BAC resolution in 32 breast and six pancreatic cancer cell lines. Regions of recurrent rearrangement distal to 8p12 were further characterised, using regional fosmid arrays. FISH, and quantitative RT-PCR on over 60 breast tumours validated the existence of similar events in primary material. We confirmed that 8p is usually lost up to at least 30 Mb, but a few lines showed focal loss or copy number steps within this region. Three regions showed rearrangements common to at least two cases: two regions of recurrent loss and one region of amplification. Loss within 8p23.3 (0 Mb – 2.2 Mb) was found in six cell lines. Of the genes always affected, ARHGEF10 showed a point mutation of the remaining normal copies in the DU4475 cell line. Deletions within 12.7 Mb – 19.1 Mb in 8p22, in two cases, affected TUSC3. A novel amplicon was found within 8p21.3 (19.1 Mb – 23.4 Mb) in two lines and one of 98 tumours. The pattern of rearrangements seen on 8p may be a consequence of the high density of potential targets on this chromosome arm, and ARHGEF10 may be a new candidate tumour suppressor gene

De novo complex intra chromosomal rearrangement after ICSI: characterisation by BACs micro array-CGH

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Quimsiyeh Mazin

2008-12-01

Full Text Available Abstract Background In routine Assisted Reproductive Technology (ART men with severe oligozoospermia or azoospermia should be informed about the risk of de novo congenital or chromosomal abnormalities in ICSI program. Also the benefits of preimplantation or prenatal genetic diagnosis practice need to be explained to the couple. Methods From a routine ICSI attempt, using ejaculated sperm from male with severe oligozoospermia and having normal karyotype, a 30 years old pregnant woman was referred to prenatal diagnosis in the 17th week for bichorionic biamniotic twin gestation. Amniocentesis was performed because of the detection of an increased foetal nuchal translucency for one of the fetus by the sonographic examination during the 12th week of gestation (WG. Chromosome and DNA studies of the fetus were realized on cultured amniocytes Results Conventional, molecular cytogenetic and microarray CGH experiments allowed us to conclude that the fetus had a de novo pericentromeric inversion associated with a duplication of the 9p22.1-p24 chromosomal region, 46,XY,invdup(9(p22.1p24 [arrCGH 9p22.1p24 (RP11-130C19 → RP11-87O1x3]. As containing the critical 9p22 region, our case is in coincidence with the general phenotype features of the partial trisomy 9p syndrome with major growth retardation, microcephaly and microretrognathia. Conclusion This de novo complex chromosome rearrangement illustrates the possible risk of chromosome or gene defects in ICSI program and the contribution of array-CGH for mapping rapidly de novo chromosomal imbalance.

Asterias: A Parallelized Web-based Suite for the Analysis of Expression and aCGH Data

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Ramón Díaz-Uriarte

2007-01-01

Full Text Available The analysis of expression and CGH arrays plays a central role in the study of complex diseases, especially cancer, including finding markers for early diagnosis and prognosis, choosing an optimal therapy, or increasing our understanding of cancer development and metastasis. Asterias (http://www.asterias.info is an integrated collection of freely-accessible web tools for the analysis of gene expression and aCGH data. Most of the tools use parallel computing (via MPI and run on a server with 60 CPUs for computation; compared to a desktop or server-based but not parallelized application, parallelization provides speed ups of factors up to 50. Most of our applications allow the user to obtain additional information for user-selected genes (chromosomal location, PubMed ids, Gene Ontology terms, etc. by using clickable links in tables and/or fi gures. Our tools include: normalization of expression and aCGH data (DNMAD; converting between different types of gene/clone and protein identifi ers (IDconverter/IDClight; fi ltering and imputation (preP; finding differentially expressed genes related to patient class and survival data (Pomelo II; searching for models of class prediction (Tnasas; using random forests to search for minimal models for class prediction or for large subsets of genes with predictive capacity (GeneSrF; searching for molecular signatures and predictive genes with survival data (SignS; detecting regions of genomic DNA gain or loss (ADaCGH. The capability to send results between different applications, access to additional functional information, and parallelized computation make our suite unique and exploit features only available to web-based applications.

MYC and MYCN amplification can be reliably assessed by aCGH in medulloblastoma.

Science.gov (United States)

Bourdeaut, Franck; Grison, Camille; Maurage, Claude-Alain; Laquerriere, Annie; Vasiljevic, Alexandre; Delisle, Marie-Bernadette; Michalak, Sophie; Figarella-Branger, Dominique; Doz, François; Richer, Wilfrid; Pierron, Gaelle; Miquel, Catherine; Delattre, Olivier; Couturier, Jérôme

2013-04-01

As prognostic factors, MYC and MYCN amplifications are routinely assessed in medulloblastomas. Fluorescence in situ hybridization (FISH) is currently considered as the technique of reference. Recently, array comparative genomic hybridization (aCGH) has been developed as an alternative technique to evaluate genomic abnormalities in other tumor types; however, this technique has not been widely adopted as a replacement for FISH in medulloblastoma. In this study, 34 tumors were screened by both FISH and aCGH. In all cases showing amplification by FISH, aCGH also unambiguously revealed the abnormality. The aCGH technique was also performed on tumors showing no amplification by FISH, and the absence of amplification was confirmed in all cases. Interestingly, one tumor showed a subclonal MYC amplification by FISH. This subclonal amplification was observed in approximately 20% of tumor cells and was clearly evident on aCGH. In conclusion, our analysis confirms that aCGH is as safe as FISH for the detection of MYC/MYCN gene amplification. Given its cost efficiency in comparison to two FISH tests and the global genomic information additionally provided by an aCGH experiment, this reproducible technique can be safely retained as an alternative to FISH for routine investigation of medulloblastoma. Copyright © 2013 Elsevier Inc. All rights reserved.

Analysis of Chinese women with primary ovarian insufficiency by high resolution array-comparative genomic hybridization.

Science.gov (United States)

Liao, Can; Fu, Fang; Yang, Xin; Sun, Yi-Min; Li, Dong-Zhi

2011-06-01

Primary ovarian insufficiency (POI) is defined as a primary ovarian defect characterized by absent menarche (primary amenorrhea) or premature depletion of ovarian follicles before the age of 40 years. The etiology of primary ovarian insufficiency in human female patients is still unclear. The purpose of this study is to investigate the potential genetic causes in primary amenorrhea patients by high resolution array based comparative genomic hybridization (array-CGH) analysis. Following the standard karyotyping analysis, genomic DNA from whole blood of 15 primary amenorrhea patients and 15 normal control women was hybridized with Affymetrix cytogenetic 2.7M arrays following the standard protocol. Copy number variations identified by array-CGH were confirmed by real time polymerase chain reaction. All the 30 samples were negative by conventional karyotyping analysis. Microdeletions on chromosome 17q21.31-q21.32 with approximately 1.3 Mb were identified in four patients by high resolution array-CGH analysis. This included the female reproductive secretory pathway related factor N-ethylmaleimide-sensitive factor (NSF) gene. The results of the present study suggest that there may be critical regions regulating primary ovarian insufficiency in women with a 17q21.31-q21.32 microdeletion. This effect might be due to the loss of function of the NSF gene/genes within the deleted region or to effects on contiguous genes.

Genome-Wide Screening of Cytogenetic Abnormalities in Multiple Myeloma Patients Using Array-CGH Technique: A Czech Multicenter Experience

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Jan Smetana

2014-01-01

Full Text Available Characteristic recurrent copy number aberrations (CNAs play a key role in multiple myeloma (MM pathogenesis and have important prognostic significance for MM patients. Array-based comparative genomic hybridization (aCGH provides a powerful tool for genome-wide classification of CNAs and thus should be implemented into MM routine diagnostics. We demonstrate the possibility of effective utilization of oligonucleotide-based aCGH in 91 MM patients. Chromosomal aberrations associated with effect on the prognosis of MM were initially evaluated by I-FISH and were found in 93.4% (85/91. Incidence of hyperdiploidy was 49.5% (45/91; del(13(q14 was detected in 57.1% (52/91; gain(1(q21 occurred in 58.2% (53/91; del(17(p13 was observed in 15.4% (14/91; and t(4;14(p16;q32 was found in 18.6% (16/86. Genome-wide screening using Agilent 44K aCGH microarrays revealed copy number alterations in 100% (91/91. Most common deletions were found at 13q (58.9%, 1p (39.6%, and 8p (31.1%, whereas gain of whole 1q was the most often duplicated region (50.6%. Furthermore, frequent homozygous deletions of genes playing important role in myeloma biology such as TRAF3, BIRC1/BIRC2, RB1, or CDKN2C were observed. Taken together, we demonstrated the utilization of aCGH technique in clinical diagnostics as powerful tool for identification of unbalanced genomic abnormalities with prognostic significance for MM patients.

Development of a novel ozone- and photo-stable HyPer5 red fluorescent dye for array CGH and microarray gene expression analysis with consistent performance irrespective of environmental conditions

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Kille Peter

2008-11-01

Full Text Available Abstract Background Array-based comparative genomic hybridization (CGH and gene expression profiling have become vital techniques for identifying molecular defects underlying genetic diseases. Regardless of the microarray platform, cyanine dyes (Cy3 and Cy5 are one of the most widely used fluorescent dye pairs for microarray analysis owing to their brightness and ease of incorporation, enabling high level of assay sensitivity. However, combining both dyes on arrays can become problematic during summer months when ozone levels rise to near 25 parts per billion (ppb. Under such conditions, Cy5 is known to rapidly degrade leading to loss of signal from either "homebrew" or commercial arrays. Cy5 can also suffer disproportionately from dye photobleaching resulting in distortion of (Cy5/Cy3 ratios used in copy number analysis. Our laboratory has been active in fluorescent dye research to find a suitable alternative to Cy5 that is stable to ozone and resistant to photo-bleaching. Here, we report on the development of such a dye, called HyPer5, and describe its' exceptional ozone and photostable properties on microarrays. Results Our results show HyPer5 signal to be stable to high ozone levels. Repeated exposure of mouse arrays hybridized with HyPer5-labeled cDNA to 300 ppb ozone at 5, 10 and 15 minute intervals resulted in no signal loss from the dye. In comparison, Cy5 arrays showed a dramatic 80% decrease in total signal during the same interval. Photobleaching experiments show HyPer5 to be resistant to light induced damage with 3- fold improvement in dye stability over Cy5. In high resolution array CGH experiments, HyPer5 is demonstrated to detect chromosomal aberrations at loci 2p21-16.3 and 15q26.3-26.2 from three patient sample using bacterial artificial chromosome (BAC arrays. The photostability of HyPer5 is further documented by repeat array scanning without loss of detection. Additionally, HyPer5 arrays are shown to preserve sensitivity and

Characterization of genomic alterations in radiation-associated breast cancer among childhood cancer survivors, using comparative genomic hybridization (CGH arrays.

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Xiaohong R Yang

Full Text Available Ionizing radiation is an established risk factor for breast cancer. Epidemiologic studies of radiation-exposed cohorts have been primarily descriptive; molecular events responsible for the development of radiation-associated breast cancer have not been elucidated. In this study, we used array comparative genomic hybridization (array-CGH to characterize genome-wide copy number changes in breast tumors collected in the Childhood Cancer Survivor Study (CCSS. Array-CGH data were obtained from 32 cases who developed a second primary breast cancer following chest irradiation at early ages for the treatment of their first cancers, mostly Hodgkin lymphoma. The majority of these cases developed breast cancer before age 45 (91%, n = 29, had invasive ductal tumors (81%, n = 26, estrogen receptor (ER-positive staining (68%, n = 19 out of 28, and high proliferation as indicated by high Ki-67 staining (77%, n = 17 out of 22. Genomic regions with low-copy number gains and losses and high-level amplifications were similar to what has been reported in sporadic breast tumors, however, the frequency of amplifications of the 17q12 region containing human epidermal growth factor receptor 2 (HER2 was much higher among CCSS cases (38%, n = 12. Our findings suggest that second primary breast cancers in CCSS were enriched for an "amplifier" genomic subgroup with highly proliferative breast tumors. Future investigation in a larger irradiated cohort will be needed to confirm our findings.

Analysis of human HPRT- deletion mutants by the microarray-CGH (comparative genomic hybridization)

International Nuclear Information System (INIS)

Kodaira, M.; Sasaki, K.; Tagawa, H.; Omine, H.; Kushiro, J.; Takahashi, N.; Katayama, H.

2003-01-01

We are trying to evaluate genetic effects of radiation on human using mutation frequency as an indicator. For the efficient detection of mutations, it is important to understand the mechanism and the characteristics of radiation-induced mutations. We have started the analysis of hypoxanthine-guanine phosphoribosyl transferase (HPRT) mutants induced by X-ray in order to clarify the deletion size and the mutation-distribution. We analyzed 39 human X-ray induced HPRT-deletion mutants by using the microarray-CGH. The array for this analysis contains 57 BAC clones covering as much as possible of the 4Mb of the 5' side and 10Mb of the 3' side of the HPRT gene based on the NCBI genome database. DNA from parent strain and each HPRT-mutant strain are labeled with Cy5 and Cy3 respectively, and were mixed and hybridized on the array. Fluorescent intensity ratio of the obtained spots was analyzed using software we developed to identify clones corresponding to the deletion region. The deletion in these strains ranged up to 3.5 Mb on the 5' side and 6 Mb on the 3' side of the HPRT gene. Deletions in 13 strains ended around BAC clones located at about 3 Mb on the 5' side. On the 3' side, deletions extended up to the specific clones located at 1.5 Mb in 11 strains. The mutations seem to be complex on the 3' end of deletion; some accompanied duplications with deletions and others could not be explained by one mutation event. We need to confirm these results, taking into account the experimental reproducibility and the accuracy of the published genetic map. The results of the research using the microarray-CGH help us to search the regions where deletions are easily induced and to identify the factors affecting the range of deletions

Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study

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Yang Zhihong

2012-05-01

Full Text Available Abstract Background Single embryo transfer (SET remains underutilized as a strategy to reduce multiple gestation risk in IVF, and its overall lower pregnancy rate underscores the need for improved techniques to select one embryo for fresh transfer. This study explored use of comprehensive chromosomal screening by array CGH (aCGH to provide this advantage and improve pregnancy rate from SET. Methods First-time IVF patients with a good prognosis (age Results For patients in Group A (n = 55, 425 blastocysts were biopsied and analyzed via aCGH (7.7 blastocysts/patient. Aneuploidy was detected in 191/425 (44.9% of blastocysts in this group. For patients in Group B (n = 48, 389 blastocysts were microscopically examined (8.1 blastocysts/patient. Clinical pregnancy rate was significantly higher in the morphology + aCGH group compared to the morphology-only group (70.9 and 45.8%, respectively; p = 0.017; ongoing pregnancy rate for Groups A and B were 69.1 vs. 41.7%, respectively (p = 0.009. There were no twin pregnancies. Conclusion Although aCGH followed by frozen embryo transfer has been used to screen at risk embryos (e.g., known parental chromosomal translocation or history of recurrent pregnancy loss, this is the first description of aCGH fully integrated with a clinical IVF program to select single blastocysts for fresh SET in good prognosis patients. The observed aneuploidy rate (44.9% among biopsied blastocysts highlights the inherent imprecision of SET when conventional morphology is used alone. Embryos randomized to the aCGH group implanted with greater efficiency, resulted in clinical pregnancy more often, and yielded a lower miscarriage rate than those selected without aCGH. Additional studies are needed to verify our pilot data and confirm a role for on-site, rapid aCGH for IVF patients contemplating fresh SET.

Genome-wide comparison of paired fresh frozen and formalin-fixed paraffin-embedded gliomas by custom BAC and oligonucleotide array comparative genomic hybridization: facilitating analysis of archival gliomas.

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Mohapatra, Gayatry; Engler, David A; Starbuck, Kristen D; Kim, James C; Bernay, Derek C; Scangas, George A; Rousseau, Audrey; Batchelor, Tracy T; Betensky, Rebecca A; Louis, David N

2011-04-01

Array comparative genomic hybridization (aCGH) is a powerful tool for detecting DNA copy number alterations (CNA). Because diffuse malignant gliomas are often sampled by small biopsies, formalin-fixed paraffin-embedded (FFPE) blocks are often the only tissue available for genetic analysis; FFPE tissues are also needed to study the intratumoral heterogeneity that characterizes these neoplasms. In this paper, we present a combination of evaluations and technical advances that provide strong support for the ready use of oligonucleotide aCGH on FFPE diffuse gliomas. We first compared aCGH using bacterial artificial chromosome (BAC) arrays in 45 paired frozen and FFPE gliomas, and demonstrate a high concordance rate between FFPE and frozen DNA in an individual clone-level analysis of sensitivity and specificity, assuring that under certain array conditions, frozen and FFPE DNA can perform nearly identically. However, because oligonucleotide arrays offer advantages to BAC arrays in genomic coverage and practical availability, we next developed a method of labeling DNA from FFPE tissue that allows efficient hybridization to oligonucleotide arrays. To demonstrate utility in FFPE tissues, we applied this approach to biphasic anaplastic oligoastrocytomas and demonstrate CNA differences between DNA obtained from the two components. Therefore, BAC and oligonucleotide aCGH can be sensitive and specific tools for detecting CNAs in FFPE DNA, and novel labeling techniques enable the routine use of oligonucleotide arrays for FFPE DNA. In combination, these advances should facilitate genome-wide analysis of rare, small and/or histologically heterogeneous gliomas from FFPE tissues.

[Analysis of clinical outcomes of different embryo stage biopsy in array comparative genomic hybridization based preimplantation genetic diagnosis and screening].

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Shen, J D; Wu, W; Shu, L; Cai, L L; Xie, J Z; Ma, L; Sun, X P; Cui, Y G; Liu, J Y

2017-12-25

Objective: To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods: The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles. Chromosomal analysis was performed by array-CGH technology combined with whole genome amplification. Single embryo transfer was performed in all transfer cycles. Live birth rate was calculated as the main clinical outcomes. Results: The embryo diagnosis rate of PGD/PGS by array-CGH were 96.9%-99.1%. In PGD biopsy cycles, the live birth rate per embryo transfer cycle and live birth rate per embryo biopsy cycle were 50.0%(58/116) and 37.2%(58/156) in cleavage-stage-biopsy group, 67.5%(85/126) and 51.8%(85/164) in trophectoderm-biopsy group (both P 0.05). Conclusions: High diagnosis rate and idea live birth rate are achieved in PGD/PGS cycles based on array-CGH technology. The live birth rate of trophectoderm-biopsy group is significantly higher than that of cleavage-stage-biopsy group in PGD cycles; the efficiency of trophectoderm-biopsy is better.

Analysis of aCGH Integrating Different Sources of Information by Means of a CBR

OpenAIRE

Zato Domínguez, Carolina; de Paz Santana, Juan F.; Bajo Pérez, Javier; Corchado Rodríguez, Juan M.

2011-01-01

Knowledge management is a key element in medical environments. Arrays CGH make possible the realization of tests on patients for the detection of mutations in chromosomal regions. The detection of the regions with mutations associated to different pathologies is an important step for the selection of relevant genes, proteins or diseases. The corresponding information of the mutations and genes is distributed in dif- ferent public sources and databases, so it is necessary the use of systems th...

Reliable single cell array CGH for clinical samples.

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Zbigniew T Czyż

Full Text Available BACKGROUND: Disseminated cancer cells (DCCs and circulating tumor cells (CTCs are extremely rare, but comprise the precursors cells of distant metastases or therapy resistant cells. The detailed molecular analysis of these cells may help to identify key events of cancer cell dissemination, metastatic colony formation and systemic therapy escape. METHODOLOGY/PRINCIPAL FINDINGS: Using the Ampli1™ whole genome amplification (WGA technology and high-resolution oligonucleotide aCGH microarrays we optimized conditions for the analysis of structural copy number changes. The protocol presented here enables reliable detection of numerical genomic alterations as small as 0.1 Mb in a single cell. Analysis of single cells from well-characterized cell lines and single normal cells confirmed the stringent quantitative nature of the amplification and hybridization protocol. Importantly, fixation and staining procedures used to detect DCCs showed no significant impact on the outcome of the analysis, proving the clinical usability of our method. In a proof-of-principle study we tracked the chromosomal changes of single DCCs over a full course of high-dose chemotherapy treatment by isolating and analyzing DCCs of an individual breast cancer patient at four different time points. CONCLUSIONS/SIGNIFICANCE: The protocol enables detailed genome analysis of DCCs and thereby assessment of the clonal evolution during the natural course of the disease and under selection pressures. The results from an exemplary patient provide evidence that DCCs surviving selective therapeutic conditions may be recruited from a pool of genomically less advanced cells, which display a stable subset of specific genomic alterations.

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.

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Cappuccio, Gerarda; Vitiello, Francesco; Casertano, Alberto; Fontana, Paolo; Genesio, Rita; Bruzzese, Dario; Ginocchio, Virginia Maria; Mormile, Angela; Nitsch, Lucio; Andria, Generoso; Melis, Daniela

2016-04-12

Array-CGH (aCGH) is presently used into routine clinical practice for diagnosis of patients with intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorder (ASD). ACGH could detect small chromosomal imbalances, copy number variations (CNVs), and closely define their size and gene content. ACGH detects pathogenic imbalances in 14-20 % of patients with ID. The aims of this study were: to establish clinical clues potentially associated with pathogenic CNVs and to identify cytogenetic indicators to predict the pathogenicity of the variants of uncertain significance (VOUS) in a large cohort of paediatric patients. We enrolled 214 patients referred for either: ID, and/or ASD and/or MCA to genetic services at the Federico II University of Naples, Department of Translational Medicine. For each patient we collected clinical and imaging data. All the patients were tested with aCGH or as first-tier test or as part of a wider diagnostic work-up. Pathologic data were detected in 65 individuals (30 %) and 46 CNVs revealed a known syndrome. The pathological CNVs were usually deletions showing the highest gene-dosage content. The positive family history for ID/ASD/MCA and ASD were good indicators for detecting pathological chromosomal rearrangements. Other clinical features as eyes anomalies, hearing loss, neurological signs, cutaneous dyscromia and endocrinological problems seem to be potential predictors of pathological CNVs. Among patients carrying VOUS we analyzed genetic features including CNVs size, presence of deletion or duplication, genic density, multiple CNVs, to clinical features. Higher gene density was found in patients affected by ID. This result suggest that higher gene content has more chances to include pathogenic gene involved and causing ID in these patients. Our study suggest the use of aCGH as first-tier test in patients with neurdevelopmental phenotypes. The inferred results have been used for building a flow-chart to be

Chromosomal aberrations in bladder cancer: fresh versus formalin fixed paraffin embedded tissue and targeted FISH versus wide microarray-based CGH analysis.

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Elena Panzeri

Full Text Available Bladder carcinogenesis is believed to follow two alternative pathways driven by the loss of chromosome 9 and the gain of chromosome 7, albeit other nonrandom copy number alterations (CNAs were identified. However, confirmation studies are needed since many aspects of this model remain unclear and considerable heterogeneity among cases has emerged. One of the purposes of this study was to evaluate the performance of a targeted test (UroVysion assay widely used for the detection of Transitional Cell Carcinoma (TCC of the bladder, in two different types of material derived from the same tumor. We compared the results of UroVysion test performed on Freshly Isolated interphasic Nuclei (FIN and on Formalin Fixed Paraffin Embedded (FFPE tissues from 22 TCCs and we didn't find substantial differences. A second goal was to assess the concordance between array-CGH profiles and the targeted chromosomal profiles of UroVysion assay on an additional set of 10 TCCs, in order to evaluate whether UroVysion is an adequately sensitive method for the identification of selected aneuploidies and nonrandom CNAs in TCCs. Our results confirmed the importance of global genomic screening methods, that is array based CGH, to comprehensively determine the genomic profiles of large series of TCCs tumors. However, this technique has yet some limitations, such as not being able to detect low level mosaicism, or not detecting any change in the number of copies for a kind of compensatory effect due to the presence of high cellular heterogeneity. Thus, it is still advisable to use complementary techniques such as array-CGH and FISH, as the former is able to detect alterations at the genome level not excluding any chromosome, but the latter is able to maintain the individual data at the level of single cells, even if it focuses on few genomic regions.

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

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Chandrasekharappa, Settara C; Lach, Francis P; Kimble, Danielle C; Kamat, Aparna; Teer, Jamie K; Donovan, Frank X; Flynn, Elizabeth; Sen, Shurjo K; Thongthip, Supawat; Sanborn, Erica; Smogorzewska, Agata; Auerbach, Arleen D; Ostrander, Elaine A

2013-05-30

Current methods for detecting mutations in Fanconi anemia (FA)-suspected patients are inefficient and often miss mutations. We have applied recent advances in DNA sequencing and genomic capture to the diagnosis of FA. Specifically, we used custom molecular inversion probes or TruSeq-enrichment oligos to capture and sequence FA and related genes, including introns, from 27 samples from the International Fanconi Anemia Registry at The Rockefeller University. DNA sequencing was complemented with custom array comparative genomic hybridization (aCGH) and RNA sequencing (RNA-seq) analysis. aCGH identified deletions/duplications in 4 different FA genes. RNA-seq analysis revealed lack of allele specific expression associated with a deletion and splicing defects caused by missense, synonymous, and deep-in-intron variants. The combination of TruSeq-targeted capture, aCGH, and RNA-seq enabled us to identify the complementation group and biallelic germline mutations in all 27 families: FANCA (7), FANCB (3), FANCC (3), FANCD1 (1), FANCD2 (3), FANCF (2), FANCG (2), FANCI (1), FANCJ (2), and FANCL (3). FANCC mutations are often the cause of FA in patients of Ashkenazi Jewish (AJ) ancestry, and we identified 2 novel FANCC mutations in 2 patients of AJ ancestry. We describe here a strategy for efficient molecular diagnosis of FA.

Analysis of genomic alterations in neuroblastoma by multiplex ligation-dependent probe amplification and array comparative genomic hybridization: a comparison of results.

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Combaret, Valérie; Iacono, Isabelle; Bréjon, Stéphanie; Schleiermacher, Gudrun; Pierron, Gäelle; Couturier, Jérôme; Bergeron, Christophe; Blay, Jean-Yves

2012-12-01

In cases of neuroblastoma, recurring genetic alterations--losses of the 1p, 3p, 4p, and 11q and/or gains of 1q, 2p, and 17q chromosome arms--are currently used to define the therapeutic strategy in therapeutic protocols for low- and intermediate-risk patients. Different genome-wide analysis techniques, such as array comparative genomic hybridization (aCGH) or multiplex ligation-dependent probe amplification (MLPA), have been suggested for detecting chromosome segmental abnormalities. In this study, we compared the results of the two technologies in the analyses of the DNA of tumor samples from 91 neuroblastoma patients. Similar results were obtained with the two techniques for 75 samples (82%). In five cases (5.5%), the MLPA results were not interpretable. Discrepancies between the aCGH and MLPA results were observed in 11 cases (12%). Among the discrepancies, a 18q21.2-qter gain and 16p11.2 and 11q14.1-q14.3 losses were detected only by aCGH. The MLPA results showed that the 7p, 7q, and 14q chromosome arms were affected in six cases, while in two cases, 2p and 17q gains were observed; these results were confirmed by neither aCGH nor fluorescence in situ hybridization (FISH) analysis. Because of the higher sensitivity and specificity of genome-wide information, reasonable cost, and shorter time of aCGH analysis, we recommend the aCGH procedure for the analysis of genomic alterations in neuroblastoma. Copyright © 2012 Elsevier Inc. All rights reserved.

Microdeletion and microduplication analysis of chinese conotruncal defects patients with targeted array comparative genomic hybridization.

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Xiaohui Gong

Full Text Available OBJECTIVE: The current study aimed to develop a reliable targeted array comparative genomic hybridization (aCGH to detect microdeletions and microduplications in congenital conotruncal defects (CTDs, especially on 22q11.2 region, and for some other chromosomal aberrations, such as 5p15-5p, 7q11.23 and 4p16.3. METHODS: Twenty-seven patients with CTDs, including 12 pulmonary atresia (PA, 10 double-outlet right ventricle (DORV, 3 transposition of great arteries (TGA, 1 tetralogy of Fallot (TOF and one ventricular septal defect (VSD, were enrolled in this study and screened for pathogenic copy number variations (CNVs, using Agilent 8 x 15K targeted aCGH. Real-time quantitative polymerase chain reaction (qPCR was performed to test the molecular results of targeted aCGH. RESULTS: Four of 27 patients (14.8% had 22q11.2 CNVs, 1 microdeletion and 3 microduplications. qPCR test confirmed the microdeletion and microduplication detected by the targeted aCGH. CONCLUSION: Chromosomal abnormalities were a well-known cause of multiple congenital anomalies (MCA. This aCGH using arrays with high-density coverage in the targeted regions can detect genomic imbalances including 22q11.2 and other 10 kinds CNVs effectively and quickly. This approach has the potential to be applied to detect aneuploidy and common microdeletion/microduplication syndromes on a single microarray.

Carcinoma ex-pleomorphic adenoma derived from recurrent pleomorphic adenoma shows important difference by array CGH compared to recurrent pleomorphic adenoma without malignant transformation

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Fernanda Viviane Mariano

Full Text Available Abstract Introduction: A key step of cancer development is the progressive accumulation of genomic changes resulting in disruption of several biological mechanisms. Carcinoma ex-pleomorphic adenoma (CXPA is an aggressive neoplasm that arises from a pleomorphic adenoma. CXPA derived from a recurrent PA (RPA has been rarely reported, and the genomic changes associated with these tumors have not yet been studied. Objective: We analyzed CXPA from RPAs and RPAs without malignant transformation using array-comparative genomic hybridization (array-CGH to identify somatic copy number alterations and affected genes. Methods: DNA samples extracted from FFPE tumors were submitted to array-CGH investigation, and data was analyzed by Nexus Copy Number Discovery Edition v.7. Results: No somatic copy number alterations were found in RPAs without malignant transformation. As for CXPA from RPA, although genomic profiles were unique for each case, we detected some chromosomal regions that appear to be preferentially affected by copy number alterations. The first case of CXPA-RPA (frankly invasive myoepithelial carcinoma showed copy number alterations affecting 1p36.33p13, 5p and chromosomes 3 and 8. The second case of CXPA-RPA (frankly invasive epithelial-myoepithelial carcinoma showed several alterations at chromosomes 3, 8, and 16, with two amplifications at 8p12p11.21 and 12q14.3q21.2. The third case of CXPA-RPA (minimally invasive epithelial-myoepithelial carcinoma exhibited amplifications at 12q13.3q14.1, 12q14.3, and 12q15. Conclusion: The occurrence of gains at chromosomes 3 and 8 and genomic amplifications at 8p and 12q, mainly those encompassing the HMGA2, MDM2, WIF1, WHSC1L1, LIRG3, CDK4 in CXAP from RPA can be a significant promotional factor in malignant transformation.

Novel applications of array comparative genomic hybridization in molecular diagnostics.

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Cheung, Sau W; Bi, Weimin

2018-05-31

In 2004, the implementation of array comparative genomic hybridization (array comparative genome hybridization [CGH]) into clinical practice marked a new milestone for genetic diagnosis. Array CGH and single-nucleotide polymorphism (SNP) arrays enable genome-wide detection of copy number changes in a high resolution, and therefore microarray has been recognized as the first-tier test for patients with intellectual disability or multiple congenital anomalies, and has also been applied prenatally for detection of clinically relevant copy number variations in the fetus. Area covered: In this review, the authors summarize the evolution of array CGH technology from their diagnostic laboratory, highlighting exonic SNP arrays developed in the past decade which detect small intragenic copy number changes as well as large DNA segments for the region of heterozygosity. The applications of array CGH to human diseases with different modes of inheritance with the emphasis on autosomal recessive disorders are discussed. Expert commentary: An exonic array is a powerful and most efficient clinical tool in detecting genome wide small copy number variants in both dominant and recessive disorders. However, whole-genome sequencing may become the single integrated platform for detection of copy number changes, single-nucleotide changes as well as balanced chromosomal rearrangements in the near future.

SIGMA: A System for Integrative Genomic Microarray Analysis of Cancer Genomes

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Davies Jonathan J

2006-12-01

Full Text Available Abstract Background The prevalence of high resolution profiling of genomes has created a need for the integrative analysis of information generated from multiple methodologies and platforms. Although the majority of data in the public domain are gene expression profiles, and expression analysis software are available, the increase of array CGH studies has enabled integration of high throughput genomic and gene expression datasets. However, tools for direct mining and analysis of array CGH data are limited. Hence, there is a great need for analytical and display software tailored to cross platform integrative analysis of cancer genomes. Results We have created a user-friendly java application to facilitate sophisticated visualization and analysis such as cross-tumor and cross-platform comparisons. To demonstrate the utility of this software, we assembled array CGH data representing Affymetrix SNP chip, Stanford cDNA arrays and whole genome tiling path array platforms for cross comparison. This cancer genome database contains 267 profiles from commonly used cancer cell lines representing 14 different tissue types. Conclusion In this study we have developed an application for the visualization and analysis of data from high resolution array CGH platforms that can be adapted for analysis of multiple types of high throughput genomic datasets. Furthermore, we invite researchers using array CGH technology to deposit both their raw and processed data, as this will be a continually expanding database of cancer genomes. This publicly available resource, the System for Integrative Genomic Microarray Analysis (SIGMA of cancer genomes, can be accessed at http://sigma.bccrc.ca.

Detecting single DNA copy number variations in complex genomes using one nanogram of starting DNA and BAC-array CGH.

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Guillaud-Bataille, Marine; Valent, Alexander; Soularue, Pascal; Perot, Christine; Inda, Maria Mar; Receveur, Aline; Smaïli, Sadek; Roest Crollius, Hugues; Bénard, Jean; Bernheim, Alain; Gidrol, Xavier; Danglot, Gisèle

2004-07-29

Comparative genomic hybridization to bacterial artificial chromosome (BAC)-arrays (array-CGH) is a highly efficient technique, allowing the simultaneous measurement of genomic DNA copy number at hundreds or thousands of loci, and the reliable detection of local one-copy-level variations. We report a genome-wide amplification method allowing the same measurement sensitivity, using 1 ng of starting genomic DNA, instead of the classical 1 microg usually necessary. Using a discrete series of DNA fragments, we defined the parameters adapted to the most faithful ligation-mediated PCR amplification and the limits of the technique. The optimized protocol allows a 3000-fold DNA amplification, retaining the quantitative characteristics of the initial genome. Validation of the amplification procedure, using DNA from 10 tumour cell lines hybridized to BAC-arrays of 1500 spots, showed almost perfectly superimposed ratios for the non-amplified and amplified DNAs. Correlation coefficients of 0.96 and 0.99 were observed for regions of low-copy-level variations and all regions, respectively (including in vivo amplified oncogenes). Finally, labelling DNA using two nucleotides bearing the same fluorophore led to a significant increase in reproducibility and to the correct detection of one-copy gain or loss in >90% of the analysed data, even for pseudotriploid tumour genomes.

Cross-platform array comparative genomic hybridization meta-analysis separates hematopoietic and mesenchymal from epithelial tumors

NARCIS (Netherlands)

Jong, C.; Marchiori, E.; van der Vaart, A.W.; Chin, S.F.; Carvalho, B; Tijssen, M.; Eijk, P.P.; van den IJssel, P.; Grabsch, H.; Quirke, P.; Oudejans, J.J.; Meijer, G.J.; Caldas, C.; Ylstra, B.

2007-01-01

A series of studies have been published that evaluate the chromosomal copy number changes of different tumor classes using array comparative genomic hybridization (array CGH); however, the chromosomal aberrations that distinguish the different tumor classes have not been fully characterized.

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter

DEFF Research Database (Denmark)

Kirchhoff, Maria; Bisgaard, Anne-Marie; Stoeva, Radka

2009-01-01

Partial deletions of the long arm of chromosome 13 lead to variable phenotypes dependant on the size and position of the deleted region. In order to update the phenotypic map of chromosome 13q21.1-qter deletions, we applied 244k Agilent oligonucleotide-based array-CGH to determine the exact break......-genotype correlation on chromosome 13. In contrast to previous reports of carriers of 13q32 band deletions as the most seriously affected patients, we present two such individuals with long-term survival, 28 and 2.5 years....

Explorative data analysis of MCL reveals gene expression networks implicated in survival and prognosis supported by explorative CGH analysis

International Nuclear Information System (INIS)

Blenk, Steffen; Engelmann, Julia C; Pinkert, Stefan; Weniger, Markus; Schultz, Jörg; Rosenwald, Andreas; Müller-Hermelink, Hans K; Müller, Tobias; Dandekar, Thomas

2008-01-01

Mantle cell lymphoma (MCL) is an incurable B cell lymphoma and accounts for 6% of all non-Hodgkin's lymphomas. On the genetic level, MCL is characterized by the hallmark translocation t(11;14) that is present in most cases with few exceptions. Both gene expression and comparative genomic hybridization (CGH) data vary considerably between patients with implications for their prognosis. We compare patients over and below the median of survival. Exploratory principal component analysis of gene expression data showed that the second principal component correlates well with patient survival. Explorative analysis of CGH data shows the same correlation. On chromosome 7 and 9 specific genes and bands are delineated which improve prognosis prediction independent of the previously described proliferation signature. We identify a compact survival predictor of seven genes for MCL patients. After extensive re-annotation using GEPAT, we established protein networks correlating with prognosis. Well known genes (CDC2, CCND1) and further proliferation markers (WEE1, CDC25, aurora kinases, BUB1, PCNA, E2F1) form a tight interaction network, but also non-proliferative genes (SOCS1, TUBA1B CEBPB) are shown to be associated with prognosis. Furthermore we show that aggressive MCL implicates a gene network shift to higher expressed genes in late cell cycle states and refine the set of non-proliferative genes implicated with bad prognosis in MCL. The results from explorative data analysis of gene expression and CGH data are complementary to each other. Including further tests such as Wilcoxon rank test we point both to proliferative and non-proliferative gene networks implicated in inferior prognosis of MCL and identify suitable markers both in gene expression and CGH data

Comparative cytogenetic characterization of primary canine melanocytic lesions using array CGH and fluorescence in situ hybridization.

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Poorman, Kelsey; Borst, Luke; Moroff, Scott; Roy, Siddharth; Labelle, Philippe; Motsinger-Reif, Alison; Breen, Matthew

2015-06-01

Melanocytic lesions originating from the oral mucosa or cutaneous epithelium are common in the general dog population, with up to 100,000 diagnoses each year in the USA. Oral melanoma is the most frequent canine neoplasm of the oral cavity, exhibiting a highly aggressive course. Cutaneous melanocytomas occur frequently, but rarely develop into a malignant form. Despite the differential prognosis, it has been assumed that subtypes of melanocytic lesions represent the same disease. To address the relative paucity of information about their genomic status, molecular cytogenetic analysis was performed on the three recognized subtypes of canine melanocytic lesions. Using array comparative genomic hybridization (aCGH) analysis, highly aberrant distinct copy number status across the tumor genome for both of the malignant melanoma subtypes was revealed. The most frequent aberrations included gain of dog chromosome (CFA) 13 and 17 and loss of CFA 22. Melanocytomas possessed fewer genome wide aberrations, yet showed a recurrent gain of CFA 20q15.3-17. A distinctive copy number profile, evident only in oral melanomas, displayed a sigmoidal pattern of copy number loss followed immediately by a gain, around CFA 30q14. Moreover, when assessed by fluorescence in situ hybridization (FISH), copy number aberrations of targeted genes, such as gain of c-MYC (80 % of cases) and loss of CDKN2A (68 % of cases), were observed. This study suggests that in concordance with what is known for human melanomas, canine melanomas of the oral mucosa and cutaneous epithelium are discrete and initiated by different molecular pathways.

Optical alignment using a CGH and an autostigmatic microscope

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Parks, Robert E.

2017-08-01

We show how custom computer generated holograms (CGH) are used along with an autostigmatic microscope (ASM) to align both optical and mechanical components relative to the CGH. The patterns in the CGHs define points and lines in space when interrogated with the focus of the ASM. Once the ASM is aligned to the CGH, an optical or mechanical component such as a lens, a well-polished ball or a cylinder can be aligned to the ASM in 3 or 4 degrees of freedom and thus to the CGH. In this case we show how a CGH is used to make a fixture for cementing a doublet lens without the need for a rotary table or a precision vertical stage.

[Analysis of genomic copy number variations in two sisters with primary amenorrhea and hyperandrogenism].

Science.gov (United States)

Zhang, Yanliang; Xu, Qiuyue; Cai, Xuemei; Li, Yixun; Song, Guibo; Wang, Juan; Zhang, Rongchen; Dai, Yong; Duan, Yong

2015-12-01

To analyze genomic copy number variations (CNVs) in two sisters with primary amenorrhea and hyperandrogenism. G-banding was performed for karyotype analysis. The whole genome of the two sisters were scanned and analyzed by array-based comparative genomic hybridization (array-CGH). The results were confirmed with real-time quantitative PCR (RT-qPCR). No abnormality was found by conventional G-banded chromosome analysis. Array-CGH has identified 11 identical CNVs from the sisters which, however, overlapped with CNVs reported by the Database of Genomic Variants (http://projects.tcag.ca/variation/). Therefore, they are likely to be benign. In addition, a -8.44 Mb 9p11.1-p13.1 duplication (38,561,587-47,002,387 bp, hg18) and a -80.9 kb 4q13.2 deletion (70,183,990-70,264,889 bp, hg18) were also detected in the elder and younger sister, respectively. The relationship between such CNVs and primary amenorrhea and hyperandrogenism was however uncertain. RT-qPCR results were in accordance with array-CGH. Two CNVs were detected in two sisters by array-CGH, for which further studies are needed to clarify their correlation with primary amenorrhea and hyperandrogenism.

A multi-sample based method for identifying common CNVs in normal human genomic structure using high-resolution aCGH data.

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Chihyun Park

Full Text Available BACKGROUND: It is difficult to identify copy number variations (CNV in normal human genomic data due to noise and non-linear relationships between different genomic regions and signal intensity. A high-resolution array comparative genomic hybridization (aCGH containing 42 million probes, which is very large compared to previous arrays, was recently published. Most existing CNV detection algorithms do not work well because of noise associated with the large amount of input data and because most of the current methods were not designed to analyze normal human samples. Normal human genome analysis often requires a joint approach across multiple samples. However, the majority of existing methods can only identify CNVs from a single sample. METHODOLOGY AND PRINCIPAL FINDINGS: We developed a multi-sample-based genomic variations detector (MGVD that uses segmentation to identify common breakpoints across multiple samples and a k-means-based clustering strategy. Unlike previous methods, MGVD simultaneously considers multiple samples with different genomic intensities and identifies CNVs and CNV zones (CNVZs; CNVZ is a more precise measure of the location of a genomic variant than the CNV region (CNVR. CONCLUSIONS AND SIGNIFICANCE: We designed a specialized algorithm to detect common CNVs from extremely high-resolution multi-sample aCGH data. MGVD showed high sensitivity and a low false discovery rate for a simulated data set, and outperformed most current methods when real, high-resolution HapMap datasets were analyzed. MGVD also had the fastest runtime compared to the other algorithms evaluated when actual, high-resolution aCGH data were analyzed. The CNVZs identified by MGVD can be used in association studies for revealing relationships between phenotypes and genomic aberrations. Our algorithm was developed with standard C++ and is available in Linux and MS Windows format in the STL library. It is freely available at: http://embio.yonsei.ac.kr/~Park/mgvd.php.

Clinical Utility of Array Comparative Genomic Hybridization for Detection of Chromosomal Abnormalities in Pediatric Acute Lymphoblastic Leukemia

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Rabin, Karen R.; Man, Tsz-Kwong; Yu, Alexander; Folsom, Matthew R.; Zhao, Yi-Jue; Rao, Pulivarthi H.; Plon, Sharon E.; Naeem, Rizwan C.

2014-01-01

Background Accurate detection of recurrent chromosomal abnormalities is critical to assign patients to risk-based therapeutic regimens for pediatric acute lymphoblastic leukemia (ALL). Procedure We investigated the utility of array comparative genomic hybridization (aCGH) for detection of chromosomal abnormalities compared to standard clinical evaluation with karyotype and fluorescent in-situ hybridization (FISH). Fifty pediatric ALL diagnostic bone marrows were analyzed by bacterial artificial chromosome (BAC) array, and findings compared to standard clinical evaluation. Results Sensitivity of aCGH was 79% to detect karyotypic findings other than balanced translocations, which cannot be detected by aCGH because they involve no copy number change. aCGH also missed abnormalities occurring in subclones constituting less than 25% of cells. aCGH detected 44 additional abnormalities undetected or misidentified by karyotype, 21 subsequently validated by FISH, including abnormalities in 4 of 10 cases with uninformative cytogenetics. aCGH detected concurrent terminal deletions of both 9p and 20q in three cases, in two of which the 20q deletion was undetected by karyotype. A narrow region of loss at 7p21 was detected in two cases. Conclusions An array with increased BAC density over regions important in ALL, combined with PCR for fusion products of balanced translocations, could minimize labor- and time-intensive cytogenetic assays and provide key prognostic information in the approximately 35% of cases with uninformative cytogenetics. PMID:18253961

Array-based gene expression, CGH and tissue data defines a 12q24 gain in neuroblastic tumors with prognostic implication

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Kilpinen Sami

2010-05-01

Full Text Available Abstract Background Neuroblastoma has successfully served as a model system for the identification of neuroectoderm-derived oncogenes. However, in spite of various efforts, only a few clinically useful prognostic markers have been found. Here, we present a framework, which integrates DNA, RNA and tissue data to identify and prioritize genetic events that represent clinically relevant new therapeutic targets and prognostic biomarkers for neuroblastoma. Methods A single-gene resolution aCGH profiling was integrated with microarray-based gene expression profiling data to distinguish genetic copy number alterations that were strongly associated with transcriptional changes in two neuroblastoma cell lines. FISH analysis using a hotspot tumor tissue microarray of 37 paraffin-embedded neuroblastoma samples and in silico data mining for gene expression information obtained from previously published studies including up to 445 healthy nervous system samples and 123 neuroblastoma samples were used to evaluate the clinical significance and transcriptional consequences of the detected alterations and to identify subsequently activated gene(s. Results In addition to the anticipated high-level amplification and subsequent overexpression of MYCN, MEIS1, CDK4 and MDM2 oncogenes, the aCGH analysis revealed numerous other genetic alterations, including microamplifications at 2p and 12q24.11. Most interestingly, we identified and investigated the clinical relevance of a previously poorly characterized amplicon at 12q24.31. FISH analysis showed low-level gain of 12q24.31 in 14 of 33 (42% neuroblastomas. Patients with the low-level gain had an intermediate prognosis in comparison to patients with MYCN amplification (poor prognosis and to those with no MYCN amplification or 12q24.31 gain (good prognosis (P = 0.001. Using the in silico data mining approach, we identified elevated expression of five genes located at the 12q24.31 amplicon in neuroblastoma (DIABLO, ZCCHC

Array comparative genomic hybridisation analysis of boys with X linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3.

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Solomon, N.M.; Ross, S.; Morgan, T.; Belsky, J.L.; Hol, F.A.; Karnes, P.; Hopwood, N.J.; Myers, S.E.; Tan, A.; Warne, G.L.; Forrest, S.M.; Thomas, P.Q.

2004-01-01

INTRODUCTION: Array comparative genomic hybridisation (array CGH) is a powerful method that detects alteration of gene copy number with greater resolution and efficiency than traditional methods. However, its ability to detect disease causing duplications in constitutional genomic DNA has not been

Sparsity-based fast CGH generation using layer-based approach for 3D point cloud model

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Kim, Hak Gu; Jeong, Hyunwook; Ro, Yong Man

2017-03-01

Computer generated hologram (CGH) is becoming increasingly important for a 3-D display in various applications including virtual reality. In the CGH, holographic fringe patterns are generated by numerically calculating them on computer simulation systems. However, a heavy computational cost is required to calculate the complex amplitude on CGH plane for all points of 3D objects. This paper proposes a new fast CGH generation based on the sparsity of CGH for 3D point cloud model. The aim of the proposed method is to significantly reduce computational complexity while maintaining the quality of the holographic fringe patterns. To that end, we present a new layer-based approach for calculating the complex amplitude distribution on the CGH plane by using sparse FFT (sFFT). We observe the CGH of a layer of 3D objects is sparse so that dominant CGH is rapidly generated from a small set of signals by sFFT. Experimental results have shown that the proposed method is one order of magnitude faster than recently reported fast CGH generation.

High resolution array-based comparative genomic hybridisation of medulloblastomas and supra-tentorial primitive neuroectodermal tumours

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McCabe, Martin Gerard; Ichimura, Koichi; Liu, Lu; Plant, Karen; Bäcklund, L Magnus; Pearson, Danita M; Collins, Vincent Peter

2010-01-01

Medulloblastomas and supratentorial primitive neuroectodermal tumours are aggressive childhood tumours. We report our findings using array comparative genomic hybridisation (CGH) on a whole-genome BAC/PAC/cosmid array with a median clone separation of 0.97Mb to study 34 medulloblastomas and 7 supratentorial primitive neuroectodermal tumours. Array CGH allowed identification and mapping of numerous novel small regions of copy number change to genomic sequence, in addition to the large regions already known from previous studies. Novel amplifications were identified, some encompassing oncogenes, MYCL1, PDGFRA, KIT and MYB, not previously reported to show amplification in these tumours. In addition, one supratentorial primitive neuroectodermal tumour had lost both copies of the tumour suppressor genes CDKN2A & CDKN2B. Ten medulloblastomas had findings suggestive of isochromosome 17q. In contrast to previous reports using conventional CGH, array CGH identified three distinct breakpoints in these cases: Ch 17: 17940393-19251679 (17p11.2, n=6), Ch 17: 20111990-23308272 (17p11.2-17q11.2, n=4) and Ch 17: 38425359-39091575 (17q21.31, n=1). Significant differences were found in the patterns of copy number change between medulloblastomas and supratentorial primitive neuroectodermal tumours, providing further evidence that these tumours are genetically distinct despite their morphological and behavioural similarities. PMID:16783165

Application of high resolution SNP arrays in patients with congenital ...

Indian Academy of Sciences (India)

TING-YING LEI

lent oligonucleotide-based array-CGH to determine the exact breakpoints in 14 patients with partial deletions of chromo- some 13q21.1-qter. They were able to refine the smallest deletion region linked to cleft lip/palate (13q31.3–13q33.1). Except for the arrays that measure DNA copy number differ- ences only, SNP arrays, ...

Comparative genomic hybridization (CGH) analysis of stage 4 neuroblastoma reveals high frequency of 11q deletion in tumors lacking MYCN amplification

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Plantaz, D.; Vandesompele, J.; van Roy, N.; Lastowska, M.; Bown, N.; Combaret, V.; Favrot, M. C.; Delattre, O.; Michon, J.; Bénard, J.; Hartmann, O.; Nicholson, J. C.; Ross, F. M.; Brinkschmidt, C.; Laureys, G.; Caron, H.; Matthay, K. K.; Feuerstein, B. G.; Speleman, F.

2001-01-01

We have studied the occurrence and association of 11q deletions with other chromosomal imbalances in Stage 4 neuroblastomas. To this purpose we have performed comparative genomic hybridization (CGH) analysis on 50 Stage 4 neuroblastomas and these data were analyzed together with those from 33

Genome-wide comparison of paired fresh frozen and formalin-fixed paraffin-embedded gliomas by custom BAC and oligonucleotide array comparative genomic hybridization: facilitating analysis of archival gliomas

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Mohapatra, Gayatry; Engler, David A.; Starbuck, Kristen D.; Kim, James C.; Bernay, Derek C.; Scangas, George A.; Rousseau, Audrey; Batchelor, Tracy T.; Betensky, Rebecca A.; Louis, David N.

2010-01-01

Molecular genetic analysis of cancer is rapidly evolving as a result of improvement in genomic technologies and the growing applicability of such analyses to clinical oncology. Array based comparative genomic hybridization (aCGH) is a powerful tool for detecting DNA copy number alterations (CNA), particularly in solid tumors, and has been applied to the study of malignant gliomas. In the clinical setting, however, gliomas are often sampled by small biopsies and thus formalin-fixed paraffin-embedded (FFPE) blocks are often the only tissue available for genetic analysis, especially for rare types of gliomas. Moreover, the biological basis for the marked intratumoral heterogeneity in gliomas is most readily addressed in FFPE material. Therefore, for gliomas, the ability to use DNA from FFPE tissue is essential for both clinical and research applications. In this study, we have constructed a custom bacterial artificial chromosome (BAC) array and show excellent sensitivity and specificity for detecting CNAs in a panel of paired frozen and FFPE glioma samples. Our study demonstrates a high concordance rate between CNAs detected in FFPE compared to frozen DNA. We have also developed a method of labeling DNA from FFPE tissue that allows efficient hybridization to oligonucleotide arrays. This labeling technique was applied to a panel of biphasic anaplastic oligoastrocytomas (AOA) to identify genetic changes unique to each component. Together, results from these studies suggest that BAC and oligonucleotide aCGH are sensitive tools for detecting CNAs in FFPE DNA, and can enable genome-wide analysis of rare, small and/or histologically heterogeneous gliomas. PMID:21080181

Application of oligonucleotide array CGH to the simultaneous detection of a deletion in the nuclear TK2 gene and mtDNA depletion.

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Zhang, Shulin; Li, Fang-Yuan; Bass, Harold N; Pursley, Amber; Schmitt, Eric S; Brown, Blaire L; Brundage, Ellen K; Mardach, Rebecca; Wong, Lee-Jun

2010-01-01

Thymidine kinase 2 (TK2), encoded by the TK2 gene on chromosome 16q22, is one of the deoxyribonucleoside kinases responsible for the maintenance of mitochondrial deoxyribonucleotide pools. Defects in TK2 mainly cause a myopathic form of the mitochondrial DNA depletion syndrome (MDDS). Currently, only point mutations and small insertions and deletions have been reported in TK2 gene; gross rearrangements of TK2 gene and possible hepatic involvement in patients with TK2 mutations have not been described. We report a non-consanguineous Jordanian family with three deceased siblings due to mtDNA depletion. Sequence analysis of the father detected a heterozygous c.761T>A (p.I254N) mutation in his TK2 gene; however, point mutations in the mother were not detected. Subsequent gene dosage analysis using oligonucleotide array CGH identified an intragenic approximately 5.8-kb deletion encompassing the 5'UTR to intron 2 of her TK2 gene. Sequence analysis confirmed that the deletion spans c.1-495 to c.283-2899 of the TK2 gene (nucleotide 65,136,256-65,142,086 of chromosome 16). Analysis of liver and muscle specimens from one of the deceased infants in this family revealed compound heterozygosity for the paternal point mutation and maternal intragenic deletion. In addition, a significant reduction of the mtDNA content in liver and muscle was detected (10% and 20% of age- and tissue-matched controls, respectively). Prenatal diagnosis was performed in the third pregnancy. The fetus was found to carry both the point mutation and the deletion. This child died 6months after birth due to myopathy. A serum specimen demonstrated elevated liver transaminases in two of the infants from whom results were available. This report expands the mutation spectrum associated with TK2 deficiency. While the myopathic form of MDDS appears to be the main phenotype of TK2 mutations, liver dysfunction may also be a part of the mitochondrial depletion syndrome caused by TK2 gene defects.

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.

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Romania, Paolo; Castellano, Aurora; Surace, Cecilia; Citti, Arianna; De Ioris, Maria Antonietta; Sirleto, Pietro; De Mariano, Marilena; Longo, Luca; Boldrini, Renata; Angioni, Adriano; Locatelli, Franco; Fruci, Doriana

2013-01-01

Neuroblastoma (NB), the most common solid cancer in early childhood, usually occurs sporadically but also its familial occurance is known in 1-2% of NB patients. Germline mutations in the ALK and PHOX2B genes have been found in a subset of familial NBs. However, because some individuals harbouring mutations in these genes do not develop this tumor, additional genetic alterations appear to be required for NB pathogenesis. Herein, we studied an Italian family with three NB patients, two siblings and a first cousin, carrying an ALK germline-activating mutation R1192P, that was inherited from their unaffected mothers and with no mutations in the PHOX2B gene. A comparison between somatic and germline DNA copy number changes in the two affected siblings by a high resolution array-based Comparative Genomic Hybridization (CGH) analysis revealed a germline gain at NKAIN2 (Na/K transporting ATPase interacting 2) locus in one of the sibling, that was inherited from the parent who does not carry the ALK mutation. Surprisingly, NKAIN2 was expressed at high levels also in the affected sibling that lacks the genomic gain at this locus, clearly suggesting the existance of other regulatory mechanisms. High levels of NKAIN2 were detected in the MYCN-amplified NB cell lines and in the most aggressive NB lesions as well as in the peripheral blood of a large cohort of NB patients. Consistent with a role of NKAIN2 in NB development, NKAIN2 was down-regulated during all-trans retinoic acid differentiation in two NB cell lines. Taken together, these data indicate a potential role of NKAIN2 gene in NB growth and differentiation.

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2 as a predisposing candidate gene in neuroblastoma.

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Paolo Romania

Full Text Available Neuroblastoma (NB, the most common solid cancer in early childhood, usually occurs sporadically but also its familial occurance is known in 1-2% of NB patients. Germline mutations in the ALK and PHOX2B genes have been found in a subset of familial NBs. However, because some individuals harbouring mutations in these genes do not develop this tumor, additional genetic alterations appear to be required for NB pathogenesis. Herein, we studied an Italian family with three NB patients, two siblings and a first cousin, carrying an ALK germline-activating mutation R1192P, that was inherited from their unaffected mothers and with no mutations in the PHOX2B gene. A comparison between somatic and germline DNA copy number changes in the two affected siblings by a high resolution array-based Comparative Genomic Hybridization (CGH analysis revealed a germline gain at NKAIN2 (Na/K transporting ATPase interacting 2 locus in one of the sibling, that was inherited from the parent who does not carry the ALK mutation. Surprisingly, NKAIN2 was expressed at high levels also in the affected sibling that lacks the genomic gain at this locus, clearly suggesting the existance of other regulatory mechanisms. High levels of NKAIN2 were detected in the MYCN-amplified NB cell lines and in the most aggressive NB lesions as well as in the peripheral blood of a large cohort of NB patients. Consistent with a role of NKAIN2 in NB development, NKAIN2 was down-regulated during all-trans retinoic acid differentiation in two NB cell lines. Taken together, these data indicate a potential role of NKAIN2 gene in NB growth and differentiation.

Preimplantation genetic diagnosis for chromosomal rearrangements with the use of array comparative genomic hybridization at the blastocyst stage.

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Christodoulou, Christodoulos; Dheedene, Annelies; Heindryckx, Björn; van Nieuwerburgh, Filip; Deforce, Dieter; De Sutter, Petra; Menten, Björn; Van den Abbeel, Etienne

2017-01-01

To establish the value of array comparative genomic hybridization (CGH) for preimplantation genetic diagnosis (PGD) in embryos of translocation carriers in combination with vitrification and frozen embryo transfer in nonstimulated cycles. Retrospective data analysis study. Academic centers for reproductive medicine and genetics. Thirty-four couples undergoing PGD for chromosomal rearrangements from October 2013 to December 2015. Trophectoderm biopsy at day 5 or day 6 of embryo development and subsequently whole genome amplification and array CGH were performed. This approach revealed a high occurrence of aneuploidies and structural rearrangements unrelated to the parental rearrangement. Nevertheless, we observed a benefit in pregnancy rates of these couples. We detected chromosomal abnormalities in 133/207 embryos (64.2% of successfully amplified), and 74 showed a normal microarray profile (35.7%). In 48 of the 133 abnormal embryos (36.1%), an unbalanced rearrangement originating from the parental translocation was identified. Interestingly, 34.6% of the abnormal embryos (46/133) harbored chromosome rearrangements that were not directly linked to the parental translocation in question. We also detected a combination of unbalanced parental-derived rearrangements and aneuploidies in 27 of the 133 abnormal embryos (20.3%). The use of trophectoderm biopsy at the blastocyst stage is less detrimental to the survival of the embryo and leads to a more reliable estimate of the genomic content of the embryo than cleavage-stage biopsy. In this small cohort PGD study, we describe the successful implementation of array CGH analysis of blastocysts in patients with a chromosomal rearrangement to identify euploid embryos for transfer. Copyright © 2016 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

Generation of a genomic tiling array of the human Major Histocompatibility Complex (MHC and its application for DNA methylation analysis

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Ottaviani Diego

2008-05-01

Full Text Available Abstract Background The major histocompatibility complex (MHC is essential for human immunity and is highly associated with common diseases, including cancer. While the genetics of the MHC has been studied intensively for many decades, very little is known about the epigenetics of this most polymorphic and disease-associated region of the genome. Methods To facilitate comprehensive epigenetic analyses of this region, we have generated a genomic tiling array of 2 Kb resolution covering the entire 4 Mb MHC region. The array has been designed to be compatible with chromatin immunoprecipitation (ChIP, methylated DNA immunoprecipitation (MeDIP, array comparative genomic hybridization (aCGH and expression profiling, including of non-coding RNAs. The array comprises 7832 features, consisting of two replicates of both forward and reverse strands of MHC amplicons and appropriate controls. Results Using MeDIP, we demonstrate the application of the MHC array for DNA methylation profiling and the identification of tissue-specific differentially methylated regions (tDMRs. Based on the analysis of two tissues and two cell types, we identified 90 tDMRs within the MHC and describe their characterisation. Conclusion A tiling array covering the MHC region was developed and validated. Its successful application for DNA methylation profiling indicates that this array represents a useful tool for molecular analyses of the MHC in the context of medical genomics.

The Utility of Chromosomal Microarray Analysis in Developmental and Behavioral Pediatrics

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Beaudet, Arthur L.

2013-01-01

Chromosomal microarray analysis (CMA) has emerged as a powerful new tool to identify genomic abnormalities associated with a wide range of developmental disabilities including congenital malformations, cognitive impairment, and behavioral abnormalities. CMA includes array comparative genomic hybridization (CGH) and single nucleotide polymorphism…

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.

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Yang, Wen-Xu; Pan, Hong; Li, Lin; Wu, Hai-Rong; Wang, Song-Tao; Bao, Xin-Hua; Jiang, Yu-Wu; Qi, Yu

2016-03-20

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH). Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH. All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3. The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.

Genome-wide detection of copy number variations among diverse horse breeds by array CGH.

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Wei Wang

Full Text Available Recent studies have found that copy number variations (CNVs are widespread in human and animal genomes. CNVs are a significant source of genetic variation, and have been shown to be associated with phenotypic diversity. However, the effect of CNVs on genetic variation in horses is not well understood. In the present study, CNVs in 6 different breeds of mare horses, Mongolia horse, Abaga horse, Hequ horse and Kazakh horse (all plateau breeds and Debao pony and Thoroughbred, were determined using aCGH. In total, seven hundred CNVs were identified ranging in size from 6.1 Kb to 0.57 Mb across all autosomes, with an average size of 43.08 Kb and a median size of 15.11 Kb. By merging overlapping CNVs, we found a total of three hundred and fifty-three CNV regions (CNVRs. The length of the CNVRs ranged from 6.1 Kb to 1.45 Mb with average and median sizes of 38.49 Kb and 13.1 Kb. Collectively, 13.59 Mb of copy number variation was identified among the horses investigated and accounted for approximately 0.61% of the horse genome sequence. Five hundred and eighteen annotated genes were affected by CNVs, which corresponded to about 2.26% of all horse genes. Through the gene ontology (GO, genetic pathway analysis and comparison of CNV genes among different breeds, we found evidence that CNVs involving 7 genes may be related to the adaptation to severe environment of these plateau horses. This study is the first report of copy number variations in Chinese horses, which indicates that CNVs are ubiquitous in the horse genome and influence many biological processes of the horse. These results will be helpful not only in mapping the horse whole-genome CNVs, but also to further research for the adaption to the high altitude severe environment for plateau horses.

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

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Mignon-Ravix, Cécile; Cacciagli, Pierre; Choucair, Nancy; Popovici, Cornel; Missirian, Chantal; Milh, Mathieu; Mégarbané, André; Busa, Tiffany; Julia, Sophie; Girard, Nadine; Badens, Catherine; Sigaudy, Sabine; Philip, Nicole; Villard, Laurent

2014-08-01

High-resolution array comparative genomic hybridization (a-CGH) enables the detection of intragenic rearrangements, such as single exon deletion or duplication. This approach can lead to the identification of new disease genes. We report on the analysis of 54 male patients presenting with intellectual deficiency (ID) and a family history suggesting X-linked (XL) inheritance or maternal skewed X-chromosome inactivation (XCI), using a home-made X-chromosome-specific microarray covering the whole human X-chromosome at high resolution. The majority of patients had whole genome array-CGH prior to the selection and we did not include large rearrangements such as MECP2 and FMR1 duplications. We identified four rearrangements considered as causative or potentially pathogenic, corresponding to a detection rate of 8%. Two CNVs affected known XLID genes and were therefore considered as causative (IL1RAPL1 and OPHN1 intragenic deletions). Two new CNVs were considered as potentially pathogenic as they affected interesting candidates for ID. The first CNV is a deletion of the first exon of the TRPC5 gene, encoding a cation channel implicated in dendrite growth and patterning, in a child presenting with ID and an autism spectrum disorder (ASD). The second CNV is a partial deletion of KLHL15, in a patient with severe ID, epilepsy, and anomalies of cortical development. In both cases, in spite of strong arguments for clinical relevance, we were not able at this stage to confirm pathogenicity of the mutations, and the causality of the variants identified in XLID remains to be confirmed. © 2014 Wiley Periodicals, Inc.

Bridging the gap from prenatal karyotyping to whole-genome array comparative genomic hybridization in Hong Kong: survey on knowledge and acceptance of health-care providers and pregnant women.

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Cheng, Hiu Yee Heidi; Kan, Anita Sik-Yau; Hui, Pui Wah; Lee, Chin Peng; Tang, Mary Hoi Yin

2017-12-01

The use of array comparative genomic hybridization (aCGH) has been increasingly widespread. The challenge of integration of this technology into prenatal diagnosis was the interpretation of results and communicating findings of unclear clinical significance. This study assesses the knowledge and acceptance of prenatal aCGH in Hong Kong obstetricians and pregnant women. The aim is to identify the needs and gaps before implementing the replacement of karyotyping with aCGH. Questionnaires with aCGH information in the form of pamphlets were sent by post to obstetrics and gynecology doctors. For the pregnant women group, a video presentation, pamphlets on aCGH and a self-administered questionnaire were provided at the antenatal clinic. The perception of aCGH between doctors and pregnant women was similar. Doctors not choosing aCGH were more concerned about the difficulty in counseling of variants of unknown significance and adult-onset disease in pregnant women, whereas pregnant women not choosing aCGH were more concerned about the increased waiting time leading to increased anxiety. Prenatal aCGH is perceived as a better test by both doctors and patients. Counseling support, training, and better understanding and communication of findings of unclear clinical significance are necessary to improve doctor-patient experience.

Genomic imbalances in 5918 malignant epithelial tumors: an explorative meta-analysis of chromosomal CGH data

International Nuclear Information System (INIS)

Baudis, Michael

2007-01-01

Chromosomal abnormalities have been associated with most human malignancies, with gains and losses on some genomic regions associated with particular entities. Of the 15429 cases collected for the Progenetix molecular-cytogenetic database, 5918 malignant epithelial neoplasias analyzed by chromosomal Comparative Genomic Hybridization (CGH) were selected for further evaluation. For the 22 clinico-pathological entities with more than 50 cases, summary profiles for genomic imbalances were generated from case specific data and analyzed. With large variation in overall genomic instability, recurring genomic gains and losses were prominent. Most entities showed frequent gains involving 8q2, while gains on 20q, 1q, 3q, 5p, 7q and 17q were frequent in different entities. Loss 'hot spots' included 3p, 4q, 13q, 17p and 18q among others. Related average imbalance patterns were found for clinically distinct entities, e.g. hepatocellular carcinomas (ca.) and ductal breast ca., as well as for histologically related entities (squamous cell ca. of different sites). Although considerable case-by-case variation of genomic profiles can be found by CGH in epithelial malignancies, a limited set of variously combined chromosomal imbalances may be typical for carcinogenesis. Focus on the respective regions should aid in target gene detection and pathway deduction

A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH.

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Poirsier, Céline; Besseau-Ayasse, Justine; Schluth-Bolard, Caroline; Toutain, Jérôme; Missirian, Chantal; Le Caignec, Cédric; Bazin, Anne; de Blois, Marie Christine; Kuentz, Paul; Catty, Marie; Choiset, Agnès; Plessis, Ghislaine; Basinko, Audrey; Letard, Pascaline; Flori, Elisabeth; Jimenez, Mélanie; Valduga, Mylène; Landais, Emilie; Lallaoui, Hakima; Cartault, François; Lespinasse, James; Martin-Coignard, Dominique; Callier, Patrick; Pebrel-Richard, Céline; Portnoi, Marie-France; Busa, Tiffany; Receveur, Aline; Amblard, Florence; Yardin, Catherine; Harbuz, Radu; Prieur, Fabienne; Le Meur, Nathalie; Pipiras, Eva; Kleinfinger, Pascale; Vialard, François; Doco-Fenzy, Martine

2016-06-01

Although 22q11.2 deletion syndrome (22q11.2DS) is the most recurrent human microdeletion syndrome associated with a highly variable phenotype, little is known about the condition's true incidence and the phenotype at diagnosis. We performed a multicenter, retrospective analysis of postnatally diagnosed patients recruited by members of the Association des Cytogénéticiens de Langue Française (the French-Speaking Cytogeneticists Association). Clinical and cytogenetic data on 749 cases diagnosed between 1995 and 2013 were collected by 31 French cytogenetics laboratories. The most frequent reasons for referral of postnatally diagnosed cases were a congenital heart defect (CHD, 48.6%), facial dysmorphism (49.7%) and developmental delay (40.7%). Since 2007 (the year in which array comparative genomic hybridization (aCGH) was introduced for the routine screening of patients with intellectual disability), almost all cases have been diagnosed using FISH (96.1%). Only 15 cases (all with an atypical phenotype) were diagnosed with aCGH; the deletion size ranged from 745 to 2904 kb. The deletion was inherited in 15.0% of cases and was of maternal origin in 85.5% of the latter. This is the largest yet documented cohort of patients with 22q11.2DS (the most commonly diagnosed microdeletion) from the same population. French cytogenetics laboratories diagnosed at least 108 affected patients (including fetuses) per year from among a national population of ∼66 million. As observed for prenatal diagnoses, CHDs were the most frequently detected malformation in postnatal diagnoses. The most common CHD in postnatal diagnoses was an isolated septal defect.

Analysis of genomic imbalances and gene expression changes in transformed follicular lymphoma (FL)

DEFF Research Database (Denmark)

Obel, G.; Farinha, P.; Lam, W.

2005-01-01

American patients with transformed FL. Methods: High-resolution BAC-array comparative genomic hybridisation (CGH) was used to detect genomic imbalances. Gene expression profiling was performed using cDNA microarrays (Affymetrix). Results: Of 9 biopsy pairs identified so far, analysis results of the first 4...

Comparative Genomic Hybridization (CGH) reveals a neo-X chromosome and biased gene movement in stalk-eyed flies (genus Teleopsis).

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Baker, Richard H; Wilkinson, Gerald S

2010-09-16

Chromosomal location has a significant effect on the evolutionary dynamics of genes involved in sexual dimorphism, impacting both the pattern of sex-specific gene expression and the rate of duplication and protein evolution for these genes. For nearly all non-model organisms, however, knowledge of chromosomal gene content is minimal and difficult to obtain on a genomic scale. In this study, we utilized Comparative Genomic Hybridization (CGH), using probes designed from EST sequence, to identify genes located on the X chromosome of four species in the stalk-eyed fly genus Teleopsis. Analysis of log(2) ratio values of female-to-male hybridization intensities from the CGH microarrays for over 3,400 genes reveals a strongly bimodal distribution that clearly differentiates autosomal from X-linked genes for all four species. Genotyping of 33 and linkage mapping of 28 of these genes in Teleopsis dalmanni indicate the CGH results correctly identified chromosomal location in all cases. Syntenic comparison with Drosophila indicates that 90% of the X-linked genes in Teleopsis are homologous to genes located on chromosome 2L in Drosophila melanogaster, suggesting the formation of a nearly complete neo-X chromosome from Muller element B in the dipteran lineage leading to Teleopsis. Analysis of gene movement both relative to Drosophila and within Teleopsis indicates that gene movement is significantly associated with 1) rates of protein evolution, 2) the pattern of gene duplication, and 3) the evolution of eyespan sexual dimorphism. Overall, this study reveals that diopsids are a critical group for understanding the evolution of sex chromosomes within Diptera. In addition, we demonstrate that CGH is a useful technique for identifying chromosomal sex-linkage and should be applicable to other organisms with EST or partial genomic information.

Comparative Genomic Hybridization (CGH reveals a neo-X chromosome and biased gene movement in stalk-eyed flies (genus Teleopsis.

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Richard H Baker

2010-09-01

Full Text Available Chromosomal location has a significant effect on the evolutionary dynamics of genes involved in sexual dimorphism, impacting both the pattern of sex-specific gene expression and the rate of duplication and protein evolution for these genes. For nearly all non-model organisms, however, knowledge of chromosomal gene content is minimal and difficult to obtain on a genomic scale. In this study, we utilized Comparative Genomic Hybridization (CGH, using probes designed from EST sequence, to identify genes located on the X chromosome of four species in the stalk-eyed fly genus Teleopsis. Analysis of log(2 ratio values of female-to-male hybridization intensities from the CGH microarrays for over 3,400 genes reveals a strongly bimodal distribution that clearly differentiates autosomal from X-linked genes for all four species. Genotyping of 33 and linkage mapping of 28 of these genes in Teleopsis dalmanni indicate the CGH results correctly identified chromosomal location in all cases. Syntenic comparison with Drosophila indicates that 90% of the X-linked genes in Teleopsis are homologous to genes located on chromosome 2L in Drosophila melanogaster, suggesting the formation of a nearly complete neo-X chromosome from Muller element B in the dipteran lineage leading to Teleopsis. Analysis of gene movement both relative to Drosophila and within Teleopsis indicates that gene movement is significantly associated with 1 rates of protein evolution, 2 the pattern of gene duplication, and 3 the evolution of eyespan sexual dimorphism. Overall, this study reveals that diopsids are a critical group for understanding the evolution of sex chromosomes within Diptera. In addition, we demonstrate that CGH is a useful technique for identifying chromosomal sex-linkage and should be applicable to other organisms with EST or partial genomic information.

Unsupervised Analysis of Array Comparative Genomic Hybridization Data from Early-Onset Colorectal Cancer Reveals Equivalence with Molecular Classification and Phenotypes

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María Arriba

2017-01-01

Full Text Available AIM: To investigate whether chromosomal instability (CIN is associated with tumor phenotypes and/or with global genomic status based on MSI (microsatellite instability and CIMP (CpG island methylator phenotype in early-onset colorectal cancer (EOCRC. METHODS: Taking as a starting point our previous work in which tumors from 60 EOCRC cases (≤45 years at the time of diagnosis were analyzed by array comparative genomic hybridization (aCGH, in the present study we performed an unsupervised hierarchical clustering analysis of those aCGH data in order to unveil possible associations between the CIN profile and the clinical features of the tumors. In addition, we evaluated the MSI and the CIMP statuses of the samples with the aim of investigating a possible relationship between copy number alterations (CNAs and the MSI/CIMP condition in EOCRC. RESULTS: Based on the similarity of the CNAs detected, the unsupervised analysis stratified samples into two main clusters (A, B and four secondary clusters (A1, A2, B3, B4. The different subgroups showed a certain correspondence with the molecular classification of colorectal cancer (CRC, which enabled us to outline an algorithm to categorize tumors according to their CIMP status. Interestingly, each subcluster showed some distinctive clinicopathological features. But more interestingly, the CIN of each subcluster mainly affected particular chromosomes, allowing us to define chromosomal regions more specifically affected depending on the CIMP/MSI status of the samples. CONCLUSIONS: Our findings may provide a basis for a new form of classifying EOCRC according to the genomic status of the tumors.

CGH Celebrates Take Your Child To Work Day 2015

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Shady Grove celebrated Take Your Child To Work Day this year with a variety of activities and sessions aimed at inspiring school-aged children to explore career paths in science and public service. CGH hosted its inaugural Take Your Child To Work Day session: An Introduction to Global Health.

CGH Supports World Cancer Day Every Day

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We celebrate World Cancer Day every year on February 4th. This year the theme “We can. I can.” invites us to think not only about how we can work with one another to reduce the global burden of cancer, but how we as individuals can make a difference. Every day the staff at CGH work to establish and build upon programs that are aimed at improving the lives of people affected by cancer.

Identification of chromosome aberrations in sporadic microsatellite stable and unstable colorectal cancers using array comparative genomic hybridization

DEFF Research Database (Denmark)

Jensen, Thomas Dyrsø; Li, Jian; Wang, Kai

2011-01-01

cancers constitute approximately 85% of sporadic cases, whereas microsatellite unstable (MSI) cases constitute the remaining 15%. In this study, we used array comparative genomic hybridization (aCGH) to identify genomic hotspot regions that harbor recurrent copy number changes. The study material...

Non-invasive preimplantation genetic screening using array comparative genomic hybridization on spent culture media: a proof-of-concept pilot study.

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Feichtinger, Michael; Vaccari, Enrico; Carli, Luca; Wallner, Elisabeth; Mädel, Ulrike; Figl, Katharina; Palini, Simone; Feichtinger, Wilfried

2017-06-01

The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching. Concordance of polar body analysis and culture media genetic results was assessed. Thirteen out of 18 samples (72.2%) revealed general concordance of ploidy status (euploid or aneuploid). At least one chromosomal aberration was found concordant in 10 out of 15 embryos found to be aneuploid by both polar body and culture media analysis. Overall, 17 out of 35 (48.6%) single chromosomal aneuploidies were concordant between the culture media and polar body analysis. By analysing negative controls (oocytes with fertilization failure), notable maternal contamination was observed. Therefore, non-invasive PGS could serve as a second matrix after polar body or cleavage stage PGS; however, in euploid results, maternal contamination needs to be considered and results interpreted with caution. Copyright © 2017 Reproductive Healthcare Ltd. Published by Elsevier Ltd. All rights reserved.

A web server for mining Comparative Genomic Hybridization (CGH) data

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Liu, Jun; Ranka, Sanjay; Kahveci, Tamer

2007-11-01

Advances in cytogenetics and molecular biology has established that chromosomal alterations are critical in the pathogenesis of human cancer. Recurrent chromosomal alterations provide cytological and molecular markers for the diagnosis and prognosis of disease. They also facilitate the identification of genes that are important in carcinogenesis, which in the future may help in the development of targeted therapy. A large amount of publicly available cancer genetic data is now available and it is growing. There is a need for public domain tools that allow users to analyze their data and visualize the results. This chapter describes a web based software tool that will allow researchers to analyze and visualize Comparative Genomic Hybridization (CGH) datasets. It employs novel data mining methodologies for clustering and classification of CGH datasets as well as algorithms for identifying important markers (small set of genomic intervals with aberrations) that are potentially cancer signatures. The developed software will help in understanding the relationships between genomic aberrations and cancer types.

An application of CART algorithm in genetics: IGFs and cGH polymorphisms in Japanese quail

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Kaplan, Selçuk

2017-04-01

The avian insulin-like growth factor-1 (IGFs) and avian growth hormone (cGH) genes are the most important genes that can affect bird performance traits because of its important function in growth and metabolism. Understanding the molecular genetic basis of variation in growth-related traits is of importance for continued improvement and increased rates of genetic gain. The objective of the present study was to identify polymorphisms of cGH and IGFs genes in Japanese quail using conventional least square method (LSM) and CART algorithm. Therefore, this study was aimed to demonstrate at determining the polymorphisms of two genes related growth characteristics via CART algorithm. A simulated data set was generated to analyze by adhering the results of some poultry genetic studies which it includes live weights at 5 weeks of age, 3 alleles and 6 genotypes of cGH and 2 alleles and 3 genotypes of IGFs. As a result, it has been determined that the CART algorithm has some advantages as for that LSM.

Custom CGH array profiling of copy number variations (CNVs) on chromosome 6p21.32 (HLA locus) in patients with venous malformations associated with multiple sclerosis

Science.gov (United States)

2010-01-01

Background Multiple sclerosis (MS) is a complex disorder thought to result from an interaction between environmental and genetic predisposing factors which have not yet been characterised, although it is known to be associated with the HLA region on 6p21.32. Recently, a picture of chronic cerebrospinal venous insufficiency (CCSVI), consequent to stenosing venous malformation of the main extra-cranial outflow routes (VM), has been described in patients affected with MS, introducing an additional phenotype with possible pathogenic significance. Methods In order to explore the presence of copy number variations (CNVs) within the HLA locus, a custom CGH array was designed to cover 7 Mb of the HLA locus region (6,899,999 bp; chr6:29,900,001-36,800,000). Genomic DNA of the 15 patients with CCSVI/VM and MS was hybridised in duplicate. Results In total, 322 CNVs, of which 225 were extragenic and 97 intragenic, were identified in 15 patients. 234 known polymorphic CNVs were detected, the majority of these being situated in non-coding or extragenic regions. The overall number of CNVs (both extra- and intragenic) showed a robust and significant correlation with the number of stenosing VMs (Spearman: r = 0.6590, p = 0.0104; linear regression analysis r = 0.6577, p = 0.0106). The region we analysed contains 211 known genes. By using pathway analysis focused on angiogenesis and venous development, MS, and immunity, we tentatively highlight several genes as possible susceptibility factor candidates involved in this peculiar phenotype. Conclusions The CNVs contained in the HLA locus region in patients with the novel phenotype of CCSVI/VM and MS were mapped in detail, demonstrating a significant correlation between the number of known CNVs found in the HLA region and the number of CCSVI-VMs identified in patients. Pathway analysis revealed common routes of interaction of several of the genes involved in angiogenesis and immunity contained within this region. Despite the small

Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center.

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Choi, Bo Geum; Hwang, Su Kyung; Kwon, Jung Eun; Kim, Yeo Hyang

2018-03-01

The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled. Of the 166 patients diagnosed with CHD, 81 underwent a-CGH and 11 patients (11/81, 13.5%) had abnormal findings on a-CGH. 22q11.2 deletion syndrome was the most common (4/11, 36.4%). On the first a-CGH, 4 patients were negative (4/81, 5%). Three of them were finally diagnosed with Williams syndrome using fluorescent in situ hybridization (FISH), 1 patient was diagnosed with Noonan syndrome through exome sequencing. All of them exhibited diffuse pulmonary artery branch hypoplasia, as well as increased velocity of blood flow, on repeated echocardiography. Five patients started rehabilitation therapy at mean 6 months old age in outpatient clinics and epilepsy was diagnosed in 2 patients. Parents of 2 patients (22q11.2 deletion syndrome and Patau syndrome) refused treatment due to the anticipated prognosis. Screening tests for genetic abnormalities using a-CGH in neonates with CHD has the advantage of early diagnosis of genetic abnormality during the neonatal period in which there is no obvious symptom of genetic abnormality. However, there are disadvantages that some genetic abnormalities cannot be identified on a-CGH. Copyright © 2018. The Korean Society of Cardiology.

Clinical array-based karyotyping of breast cancer with equivocal HER2 status resolves gene copy number and reveals chromosome 17 complexity

International Nuclear Information System (INIS)

Gunn, Shelly; Gorre, Mercedes; Mohammed, Mansoor; Yeh, I-Tien; Lytvak, Irina; Tirtorahardjo, Budi; Dzidic, Natasha; Zadeh, Soheila; Kim, Jaeweon; McCaskill, Chris; Lim, Lony

2010-01-01

HER2 gene copy status, and concomitant administration of trastuzumab (Herceptin), remains one of the best examples of targeted cancer therapy based on understanding the genomic etiology of disease. However, newly diagnosed breast cancer cases with equivocal HER2 results present a challenge for the oncologist who must make treatment decisions despite the patient's unresolved HER2 status. In some cases both immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) are reported as equivocal, whereas in other cases IHC results and FISH are discordant for positive versus negative results. The recent validation of array-based, molecular karyotyping for clinical oncology testing provides an alternative method for determination of HER2 gene copy number status in cases remaining unresolved by traditional methods. In the current study, DNA extracted from 20 formalin fixed paraffin embedded (FFPE) tissue samples from newly diagnosed cases of invasive ductal carcinoma referred to our laboratory with unresolved HER2 status, were analyzed using a clinically validated genomic array containing 127 probes covering the HER2 amplicon, the pericentromeric regions, and both chromosome 17 arms. Array-based comparative genomic hybridization (array CGH) analysis of chromosome 17 resolved HER2 gene status in [20/20] (100%) of cases and revealed additional chromosome 17 copy number changes in [18/20] (90%) of cases. Array CGH analysis also revealed two false positives and one false negative by FISH due to 'ratio skewing' caused by chromosomal gains and losses in the centromeric region. All cases with complex rearrangements of chromosome 17 showed genome-wide chromosomal instability. These results illustrate the analytical power of array-based genomic analysis as a clinical laboratory technique for resolution of HER2 status in breast cancer cases with equivocal results. The frequency of complex chromosome 17 abnormalities in these cases suggests that the two

Prognostic Impact of Array-based Genomic Profiles in Esophageal Squamous Cell Cancer

International Nuclear Information System (INIS)

Carneiro, Ana; Isinger, Anna; Karlsson, Anna; Johansson, Jan; Jönsson, Göran; Bendahl, Pär-Ola; Falkenback, Dan; Halvarsson, Britta; Nilbert, Mef

2008-01-01

Esophageal squamous cell carcinoma (ESCC) is a genetically complex tumor type and a major cause of cancer related mortality. Although distinct genetic alterations have been linked to ESCC development and prognosis, the genetic alterations have not gained clinical applicability. We applied array-based comparative genomic hybridization (aCGH) to obtain a whole genome copy number profile relevant for identifying deranged pathways and clinically applicable markers. A 32 k aCGH platform was used for high resolution mapping of copy number changes in 30 stage I-IV ESCC. Potential interdependent alterations and deranged pathways were identified and copy number changes were correlated to stage, differentiation and survival. Copy number alterations affected median 19% of the genome and included recurrent gains of chromosome regions 5p, 7p, 7q, 8q, 10q, 11q, 12p, 14q, 16p, 17p, 19p, 19q, and 20q and losses of 3p, 5q, 8p, 9p and 11q. High-level amplifications were observed in 30 regions and recurrently involved 7p11 (EGFR), 11q13 (MYEOV, CCND1, FGF4, FGF3, PPFIA, FAD, TMEM16A, CTTS and SHANK2) and 11q22 (PDFG). Gain of 7p22.3 predicted nodal metastases and gains of 1p36.32 and 19p13.3 independently predicted poor survival in multivariate analysis. aCGH profiling verified genetic complexity in ESCC and herein identified imbalances of multiple central tumorigenic pathways. Distinct gains correlate with clinicopathological variables and independently predict survival, suggesting clinical applicability of genomic profiling in ESCC

Combined M-FISH and CGH analysis allows comprehensive description of genetic alterations in neuroblastoma cell lines.

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Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Salwen, H; Laureys, G; Manoel, N; De Paepe, A; Speleman, F

2001-10-01

Cancer cell lines are essential gene discovery tools and have often served as models in genetic and functional studies of particular tumor types. One of the future challenges is comparison and interpretation of gene expression data with the available knowledge on the genomic abnormalities in these cell lines. In this context, accurate description of these genomic abnormalities is required. Here, we show that a combination of M-FISH with banding analysis, standard FISH, and CGH allowed a detailed description of the genetic alterations in 16 neuroblastoma cell lines. In total, 14 cryptic chromosome rearrangements were detected, including a balanced t(2;4)(p24.3;q34.3) translocation in cell line NBL-S, with the 2p24 breakpoint located at about 40 kb from MYCN. The chromosomal origin of 22 marker chromosomes and 41 cytogenetically undefined translocated segments was determined. Chromosome arm 2 short arm translocations were observed in six cell lines (38%) with and five (31%) without MYCN amplification, leading to partial chromosome arm 2p gain in all but one cell line and loss of material in the various partner chromosomes, including 1p and 11q. These 2p gains were often masked in the GGH profiles due to MYCN amplification. The commonly overrepresented region was chromosome segment 2pter-2p22, which contains the MYCN gene, and five out of eleven 2p breakpoints clustered to the interface of chromosome bands 2p16 and 2p21. In neuroblastoma cell line SJNB-12, with double minutes (dmins) but no MYCN amplification, the dmins were shown to be derived from 16q22-q23 sequences. The ATBF1 gene, an AT-binding transcription factor involved in normal neurogenesis and located at 16q22.2, was shown to be present in the amplicon. This is the first report describing the possible implication of ATBF1 in neuroblastoma cells. We conclude that a combined approach of M-FISH, cytogenetics, and CGH allowed a more complete and accurate description of the genetic alterations occurring in the

Chromosomal minimal critical regions in therapy-related leukemia appear different from those of de novo leukemia by high-resolution aCGH.

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Nathalie Itzhar

Full Text Available Therapy-related acute leukemia (t-AML, is a severe complication of cytotoxic therapy used for primary cancer treatment. The outcome of these patients is poor, compared to people who develop de novo acute leukemia (p-AML. Cytogenetic abnormalities in t-AML are similar to those found in p-AML but present more frequent unfavorable karyotypes depending on the inducting agent. Losses of chromosome 5 or 7 are observed after alkylating agents while balanced translocations are found after topoisomerase II inhibitors. This study compared t-AML to p-AML using high resolution array CGH in order to find copy number abnormalities (CNA at a higher resolution than conventional cytogenetics. More CNAs were observed in 30 t-AML than in 36 p-AML: 104 CNAs were observed with 63 losses and 41 gains (mean number 3.46 per case in t-AML, while in p-AML, 69 CNAs were observed with 32 losses and 37 gains (mean number of 1.9 per case. In primary leukemia with a previously "normal" karyotype, 18% exhibited a previously undetected CNA, whereas in the (few t-AML with a normal karyotype, the rate was 50%. Several minimal critical regions (MCRs were found in t-AML and p-AML. No common MCRs were found in the two groups. In t-AML a 40 kb deleted MCR pointed to RUNX1 on 21q22, a gene coding for a transcription factor implicated in frequent rearrangements in leukemia and in familial thrombocytopenia. In de novo AML, a 1 Mb MCR harboring ERG and ETS2 was observed from patients with complex aCGH profiles. High resolution cytogenomics obtained by aCGH and similar techniques already published allowed us to characterize numerous non random chromosome abnormalities. This work supports the hypothesis that they can be classified into several categories: abnormalities common to all AML; those more frequently found in t-AML and those specifically found in p-AML.

Genome-Wide DNA Copy Number Analysis of Acute Lymphoblastic Leukemia Identifies New Genetic Markers Associated with Clinical Outcome.

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Maribel Forero-Castro

Full Text Available Identifying additional genetic alterations associated with poor prognosis in acute lymphoblastic leukemia (ALL is still a challenge.To characterize the presence of additional DNA copy number alterations (CNAs in children and adults with ALL by whole-genome oligonucleotide array (aCGH analysis, and to identify their associations with clinical features and outcome. Array-CGH was carried out in 265 newly diagnosed ALLs (142 children and 123 adults. The NimbleGen CGH 12x135K array (Roche was used to analyze genetic gains and losses. CNAs were analyzed with GISTIC and aCGHweb software. Clinical and biological variables were analyzed. Three of the patients showed chromothripsis (cth6, cth14q and cth15q. CNAs were associated with age, phenotype, genetic subtype and overall survival (OS. In the whole cohort of children, the losses on 14q32.33 (p = 0.019 and 15q13.2 (p = 0.04 were related to shorter OS. In the group of children without good- or poor-risk cytogenetics, the gain on 1p36.11 was a prognostic marker independently associated with shorter OS. In adults, the gains on 19q13.2 (p = 0.001 and Xp21.1 (p = 0.029, and the loss of 17p (p = 0.014 were independent markers of poor prognosis with respect to OS. In summary, CNAs are frequent in ALL and are associated with clinical parameters and survival. Genome-wide DNA copy number analysis allows the identification of genetic markers that predict clinical outcome, suggesting that detection of these genetic lesions will be useful in the management of patients newly diagnosed with ALL.

Computer holography: 3D digital art based on high-definition CGH

International Nuclear Information System (INIS)

Matsushima, K; Arima, Y; Nishi, H; Yamashita, H; Yoshizaki, Y; Ogawa, K; Nakahara, S

2013-01-01

Our recent works of high-definition computer-generated holograms (CGH) and the techniques used for the creation, such as the polygon-based method, silhouette method and digitized holography, are summarized and reviewed in this paper. The concept of computer holography is proposed in terms of integrating and crystalizing the techniques into novel digital art.

Preliminary analysis of numerical chromosome abnormalities in reciprocal and Robertsonian translocation preimplantation genetic diagnosis cases with 24-chromosomal analysis with an aCGH/SNP microarray.

Science.gov (United States)

Xie, Yanxin; Xu, Yanwen; Wang, Jing; Miao, Benyu; Zeng, Yanhong; Ding, Chenhui; Gao, Jun; Zhou, Canquan

2018-01-01

The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following a preimplantation genetic diagnosis (PGD) with whole chromosome screening with an aCGH and SNP microarray. We also analyzed the chromosomal numerical abnormalities in embryos with aneuploidy in parental chromosomes that were not involved with a translocation and balanced in involved parental translocation chromosomes. This retrospective study included 832 embryos obtained from rcp carriers and 382 embryos from RT carriers that were biopsied in 139 PGD cycles. The control group involved embryos obtained from age-matched patient karyotypes who were undergoing preimplantation genetic screening (PGS) with non-translocation, and 579 embryos were analyzed in the control group. A single blastomere at the cleavage stage or trophectoderm from a blastocyst was biopsied, and 24-chromosomal analysis with an aCGH/SNP microarray was conducted using the PGD/PGS protocols. Statistical analyses were implemented on the incidences of cumulative aneuploidy rates between the translocation carriers and the control group. Reliable results were obtained from 138 couples, among whom only one patient was a balanced rcp or RT translocation carrier, undergoing PGD testing in our center from January 2012 to June 2014. For day 3 embryos, the aneuploidy rates were 50.7% for rcp carriers and 49.1% for RT carriers, compared with the control group, with 44.8% at a maternal age < 36 years. When the maternal age was ≥ 36 years, the aneuploidy rates were increased to 61.1% for rcp carriers, 56.7% for RT carriers, and 60.3% for the control group. There were no significant differences. In day 5 embryos, the aneuploidy rates were 24.5% for rcp carriers and 34.9% for RT carriers, compared with the control group with 53.6% at a maternal age < 36 years. When the maternal age was ≥ 36�

EzArray: A web-based highly automated Affymetrix expression array data management and analysis system

Directory of Open Access Journals (Sweden)

Zhu Yuelin

2008-01-01

Full Text Available Abstract Background Though microarray experiments are very popular in life science research, managing and analyzing microarray data are still challenging tasks for many biologists. Most microarray programs require users to have sophisticated knowledge of mathematics, statistics and computer skills for usage. With accumulating microarray data deposited in public databases, easy-to-use programs to re-analyze previously published microarray data are in high demand. Results EzArray is a web-based Affymetrix expression array data management and analysis system for researchers who need to organize microarray data efficiently and get data analyzed instantly. EzArray organizes microarray data into projects that can be analyzed online with predefined or custom procedures. EzArray performs data preprocessing and detection of differentially expressed genes with statistical methods. All analysis procedures are optimized and highly automated so that even novice users with limited pre-knowledge of microarray data analysis can complete initial analysis quickly. Since all input files, analysis parameters, and executed scripts can be downloaded, EzArray provides maximum reproducibility for each analysis. In addition, EzArray integrates with Gene Expression Omnibus (GEO and allows instantaneous re-analysis of published array data. Conclusion EzArray is a novel Affymetrix expression array data analysis and sharing system. EzArray provides easy-to-use tools for re-analyzing published microarray data and will help both novice and experienced users perform initial analysis of their microarray data from the location of data storage. We believe EzArray will be a useful system for facilities with microarray services and laboratories with multiple members involved in microarray data analysis. EzArray is freely available from http://www.ezarray.com/.

Characterization of canine osteosarcoma by array comparative genomic hybridization and RT-qPCR: signatures of genomic imbalance in canine osteosarcoma parallel the human counterpart.

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Angstadt, Andrea Y; Motsinger-Reif, Alison; Thomas, Rachael; Kisseberth, William C; Guillermo Couto, C; Duval, Dawn L; Nielsen, Dahlia M; Modiano, Jaime F; Breen, Matthew

2011-11-01

Osteosarcoma (OS) is the most commonly diagnosed malignant bone tumor in humans and dogs, characterized in both species by extremely complex karyotypes exhibiting high frequencies of genomic imbalance. Evaluation of genomic signatures in human OS using array comparative genomic hybridization (aCGH) has assisted in uncovering genetic mechanisms that result in disease phenotype. Previous low-resolution (10-20 Mb) aCGH analysis of canine OS identified a wide range of recurrent DNA copy number aberrations, indicating extensive genomic instability. In this study, we profiled 123 canine OS tumors by 1 Mb-resolution aCGH to generate a dataset for direct comparison with current data for human OS, concluding that several high frequency aberrations in canine and human OS are orthologous. To ensure complete coverage of gene annotation, we identified the human refseq genes that map to these orthologous aberrant dog regions and found several candidate genes warranting evaluation for OS involvement. Specifically, subsequenct FISH and qRT-PCR analysis of RUNX2, TUSC3, and PTEN indicated that expression levels correlated with genomic copy number status, showcasing RUNX2 as an OS associated gene and TUSC3 as a possible tumor suppressor candidate. Together these data demonstrate the ability of genomic comparative oncology to identify genetic abberations which may be important for OS progression. Large scale screening of genomic imbalance in canine OS further validates the use of the dog as a suitable model for human cancers, supporting the idea that dysregulation discovered in canine cancers will provide an avenue for complementary study in human counterparts. Copyright © 2011 Wiley-Liss, Inc.

Copy number alterations in small intestinal neuroendocrine tumors determined by array comparative genomic hybridization

International Nuclear Information System (INIS)

Hashemi, Jamileh; Fotouhi, Omid; Sulaiman, Luqman; Kjellman, Magnus; Höög, Anders; Zedenius, Jan; Larsson, Catharina

2013-01-01

Small intestinal neuroendocrine tumors (SI-NETs) are typically slow-growing tumors that have metastasized already at the time of diagnosis. The purpose of the present study was to further refine and define regions of recurrent copy number (CN) alterations (CNA) in SI-NETs. Genome-wide CNAs was determined by applying array CGH (a-CGH) on SI-NETs including 18 primary tumors and 12 metastases. Quantitative PCR analysis (qPCR) was used to confirm CNAs detected by a-CGH as well as to detect CNAs in an extended panel of SI-NETs. Unsupervised hierarchical clustering was used to detect tumor groups with similar patterns of chromosomal alterations based on recurrent regions of CN loss or gain. The log rank test was used to calculate overall survival. Mann–Whitney U test or Fisher’s exact test were used to evaluate associations between tumor groups and recurrent CNAs or clinical parameters. The most frequent abnormality was loss of chromosome 18 observed in 70% of the cases. CN losses were also frequently found of chromosomes 11 (23%), 16 (20%), and 9 (20%), with regions of recurrent CN loss identified in 11q23.1-qter, 16q12.2-qter, 9pter-p13.2 and 9p13.1-11.2. Gains were most frequently detected in chromosomes 14 (43%), 20 (37%), 4 (27%), and 5 (23%) with recurrent regions of CN gain located to 14q11.2, 14q32.2-32.31, 20pter-p11.21, 20q11.1-11.21, 20q12-qter, 4 and 5. qPCR analysis confirmed most CNAs detected by a-CGH as well as revealed CNAs in an extended panel of SI-NETs. Unsupervised hierarchical clustering of recurrent regions of CNAs revealed two separate tumor groups and 5 chromosomal clusters. Loss of chromosomes 18, 16 and 11 and again of chromosome 20 were found in both tumor groups. Tumor group II was enriched for alterations in chromosome cluster-d, including gain of chromosomes 4, 5, 7, 14 and gain of 20 in chromosome cluster-b. Gain in 20pter-p11.21 was associated with short survival. Statistically significant differences were observed between primary

Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization

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Wen-Xu Yang

2016-01-01

Conclusions: The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.

Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay

Directory of Open Access Journals (Sweden)

Björkhem Gudrun

2008-01-01

Full Text Available Abstract Background Subtelomeric regions are gene rich and deletions in these chromosomal segments have been demonstrated to account for approximately 2.5% of patients displaying mental retardation with or without association of dysmorphic features. However, cases that report de novo terminal deletions on chromosome arm 15q are rare. Methods In this study we present the first example of a detailed molecular genetic mapping of a de novo deletion in involving 15q26.2-qter, caused by the formation of a dicentric chromosome 15, using metaphase FISH and tiling resolution (32 k genome-wide array-based comparative genomic hybridization (CGH. Results After an initial characterization of the dicentric chromosome by metaphase FISH, array CGH analysis mapped the terminal deletion to encompass a 6.48 megabase (Mb region, ranging from 93.86–100.34 Mb on chromosome 15. Conclusion In conclusion, we present an additional case to the growing family of reported cases with 15q26-deletion, thoroughly characterized at the molecular cytogenetic level. In the deleted regions, four candidate genes responsible for the phenotype of the patient could be delineated: IGFR1, MEF2A, CHSY1, and TM2D3. Further characterization of additional patients harboring similar 15q-aberrations might hopefully in the future lead to the description of a clear cut clinically recognizable syndrome.

Detection of recurrent transmission of 17q12 microdeletion by array comparative genomic hybridization in a fetus with prenatally diagnosed hydronephrosis, hydroureter, and multicystic kidney, and variable clinical spectrum in the family.

Science.gov (United States)

Chen, Chih-Ping; Chang, Shuenn-Dyh; Wang, Tzu-Hao; Wang, Liang-Kai; Tsai, Jeng-Daw; Liu, Yu-Peng; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Chen, Yu-Ting; Wang, Wayseen

2013-12-01

This study was aimed at detection of recurrent transmission of the 17q12 microdeletion in a fetus with congenital anomalies of the kidney and urinary tract. A 35-year-old woman was referred to the hospital at 20 weeks' gestation because of hydronephrosis in the fetus. The mother was normal and healthy. Her second child was a girl who had bilateral dysplastic kidneys that required hemodialysis, and died at the age of 5 years. During this pregnancy, the woman underwent amniocentesis at 18 weeks' gestation because of advanced maternal age. Cytogenetic analysis revealed a karyotype of 46,XY. Prenatal ultrasound showed left hydronephrosis with a tortuous ureter, right hydronephrosis, and increased echogenicity of the kidneys. Fetal magnetic resonance imaging showed right dilated renal calyces, left hydronephrosis, hydroureter, and multicystic kidney. The pregnancy was subsequently terminated. Array comparative genomic hybridization (aCGH) and fluorescence in situ hybridization were applied for genetic analysis using umbilical cord, maternal blood, and cultured amniocytes. aCGH analysis on umbilical cord detected a 1.75-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. aCGH analysis on maternal blood detected a 1.54-Mb deletion at 17q12 including haploinsufficiency of LHX1 and HNF1B. Metaphase fluorescence in situ hybridization analysis on cultured amniocytes and maternal blood lymphocytes using 17q12-specific bacterial artificial chromosome probe showed 17q12 microdeletion in the fetus and the mother. Prenatal diagnosis of recurrent renal and urinary tract abnormalities in the fetus should include a differential diagnosis of familial 17q12 microdeletion. Copyright © 2013. Published by Elsevier B.V.

ACE-it: a tool for genome-wide integration of gene dosage and RNA expression data

NARCIS (Netherlands)

van Wieringen, W.N.; Belien, J.A.M.; Vosse, S.; Achame, E.M.; Ylstra, B.

2006-01-01

Summary: We describe a tool, called ACE-it (Array CGH Expression integration tool). ACE-it links the chromosomal position of the gene dosage measured by array CGH to the genes measured by the expression array. ACE-it uses this link to statistically test whether gene dosage affects RNA expression. ©

Lineage analysis of early and advanced tubular adenocarcinomas of the stomach: continuous or discontinuous?

International Nuclear Information System (INIS)

Nakayama, Takahisa; Ling, Zhi-Qiang; Mukaisho, Ken-ichi; Hattori, Takanori; Sugihara, Hiroyuki

2010-01-01

Eradication of early gastric carcinoma (GC) is thought to contribute to reduction in the mortality of GC, given that most of the early GCs progress to the advanced GCs. However, early GC is alternatively considered a dormant variant of GC, and it infrequently progresses to advanced GC. The aim of this study was to clarify the extent of overlap of genetic lineages between early and advanced tubular adenocarcinomas (TUBs) of the stomach. Immunohistochemical staining for p53 was performed using 28 surgically resected stomachs with 13 intramucosal and 15 invasive TUBs. By chromosome- and array-based comparative genomic hybridization (CGH), genomic copy number constitution was compared between the mucosal and invasive parts of the invasive TUBs and between the mucosal parts of the invasive and intramucosal TUBs, using 25 and 22 TUBs, respectively. TP53 mutation in exons 5-8 was examined in 20 TUBs. Chromosomal CGH revealed that 4q+ and 11q+ were more common in advanced and early TUBs, respectively, whereas copy number changes in 8q and 17p showed no significant differences between early and advanced TUBs. However, array CGH revealed that, of the 13 intramucosal TUBs examined, loss of MYC (MYC-) and gain of TP53 (TP53+) was detected in 9 TUBs and MYC+ and/or TP53- was detected in 3 TUBs. Of the mucosal samples of 9 invasive TUBs, 7 showed MYC-/TP53+ and none showed MYC+ and/or TP53-. Of the 9 samples from the invasive parts, 1 (from submucosal cancers) showed MYC-/TP53+ and 6 (1 from submucosal and 5 from advanced cancers) showed MYC+ and/or TP53-. The latter 6 tumours commonly showed a mutant pattern (diffuse or null) in p53 immunohistochemistry, and 4 of the 6 tumours assessable for TP53 sequence analysis revealed mutations. The overall array CGH pattern indicated that, between the mucosal and invasive parts, genetic lineage was found discontinuous in 5 advanced cancers and continuous in 3 submucosal cancers. Genetic lineages often differed between early and advanced

Leakage analysis of crossbar memristor arrays

KAUST Repository

Zidan, Mohammed A.

2014-07-01

Crossbar memristor arrays provide a promising high density alternative for the current memory and storage technologies. These arrays suffer from parasitic current components that significantly increase the power consumption, and could ruin the readout operation. In this work we study the trade-off between the crossbar array density and the power consumption required for its readout. Our analysis is based on simulating full memristor arrays on a SPICE platform.

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

DEFF Research Database (Denmark)

Becker, Kerstin; Di Donato, Nataliya; Holder-Espinasse, Muriel

2012-01-01

with broad nasal tip, anteverted nares, long philtrum, and thin upper lip. In this study we describe two patients with overlapping 6q14 deletions presenting with developmental delay and characteristic dysmorphism. Molecular karyotyping using array CGH analysis revealed a de novo 8.9 Mb deletion at 6q14.1-q14.......3 and a de novo 11.3 Mb deletion at 6q12.1-6q14.1, respectively. We provide a review of the clinical features of twelve other patients with 6q14 deletions detected by array CGH analysis. By assessing all reported data we could not identify a single common region of deletion. Possible candidate genes in 6q14...

Microbial Diagnostic Array Workstation (MDAW: a web server for diagnostic array data storage, sharing and analysis

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Chang Yung-Fu

2008-09-01

Full Text Available Abstract Background Microarrays are becoming a very popular tool for microbial detection and diagnostics. Although these diagnostic arrays are much simpler when compared to the traditional transcriptome arrays, due to the high throughput nature of the arrays, the data analysis requirements still form a bottle neck for the widespread use of these diagnostic arrays. Hence we developed a new online data sharing and analysis environment customised for diagnostic arrays. Methods Microbial Diagnostic Array Workstation (MDAW is a database driven application designed in MS Access and front end designed in ASP.NET. Conclusion MDAW is a new resource that is customised for the data analysis requirements for microbial diagnostic arrays.

The database of chromosome imbalance regions and genes resided in lung cancer from Asian and Caucasian identified by array-comparative genomic hybridization

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Lo Fang-Yi

2012-06-01

Full Text Available Abstract Background Cancer-related genes show racial differences. Therefore, identification and characterization of DNA copy number alteration regions in different racial groups helps to dissect the mechanism of tumorigenesis. Methods Array-comparative genomic hybridization (array-CGH was analyzed for DNA copy number profile in 40 Asian and 20 Caucasian lung cancer patients. Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. Four candidate oncogenes were validated for DNA copy number and mRNA and protein expression by quantitative polymerase chain reaction (qPCR, chromogenic in situ hybridization (CISH, reverse transcriptase-qPCR (RT-qPCR, and immunohistochemistry (IHC in more patients. Results We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. Seven common chromosomal imbalance regions harboring 117 genes, included gain on 3p13-14, 6p22.1, 9q21.13, 13q14.1, and 17p13.3; and loss on 3p22.2-22.3 and 13q13.3 were found both in Asian and Caucasian patients. Gene validation for four genes including ARHGAP19 (10q24.1 functioning in Rho activity control, FRAT2 (10q24.1 involved in Wnt signaling, PAFAH1B1 (17p13.3 functioning in motility control, and ZNF322A (6p22.1 involved in MAPK signaling was performed using qPCR and RT-qPCR. Mean gene dosage and mRNA expression level of the four candidate genes in tumor tissues were significantly higher than the corresponding normal tissues (PP=0.06. In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. IHC analysis of paraffin blocks from Asian Caucasian patients demonstrated that the frequency of

The database of chromosome imbalance regions and genes resided in lung cancer from Asian and Caucasian identified by array-comparative genomic hybridization

International Nuclear Information System (INIS)

Lo, Fang-Yi; Nandi, Suvobroto; Salgia, Ravi; Wang, Yi-Ching; Chang, Jer-Wei; Chang, I-Shou; Chen, Yann-Jang; Hsu, Han-Shui; Huang, Shiu-Feng Kathy; Tsai, Fang-Yu; Jiang, Shih Sheng; Kanteti, Rajani

2012-01-01

Cancer-related genes show racial differences. Therefore, identification and characterization of DNA copy number alteration regions in different racial groups helps to dissect the mechanism of tumorigenesis. Array-comparative genomic hybridization (array-CGH) was analyzed for DNA copy number profile in 40 Asian and 20 Caucasian lung cancer patients. Three methods including MetaCore analysis for disease and pathway correlations, concordance analysis between array-CGH database and the expression array database, and literature search for copy number variation genes were performed to select novel lung cancer candidate genes. Four candidate oncogenes were validated for DNA copy number and mRNA and protein expression by quantitative polymerase chain reaction (qPCR), chromogenic in situ hybridization (CISH), reverse transcriptase-qPCR (RT-qPCR), and immunohistochemistry (IHC) in more patients. We identified 20 chromosomal imbalance regions harboring 459 genes for Caucasian and 17 regions containing 476 genes for Asian lung cancer patients. Seven common chromosomal imbalance regions harboring 117 genes, included gain on 3p13-14, 6p22.1, 9q21.13, 13q14.1, and 17p13.3; and loss on 3p22.2-22.3 and 13q13.3 were found both in Asian and Caucasian patients. Gene validation for four genes including ARHGAP19 (10q24.1) functioning in Rho activity control, FRAT2 (10q24.1) involved in Wnt signaling, PAFAH1B1 (17p13.3) functioning in motility control, and ZNF322A (6p22.1) involved in MAPK signaling was performed using qPCR and RT-qPCR. Mean gene dosage and mRNA expression level of the four candidate genes in tumor tissues were significantly higher than the corresponding normal tissues (P<0.001~P=0.06). In addition, CISH analysis of patients indicated that copy number amplification indeed occurred for ARHGAP19 and ZNF322A genes in lung cancer patients. IHC analysis of paraffin blocks from Asian Caucasian patients demonstrated that the frequency of PAFAH1B1 protein overexpression was 68

Nanoelectrode array for electrochemical analysis

Energy Technology Data Exchange (ETDEWEB)

Yelton, William G [Sandia Park, NM; Siegal, Michael P [Albuquerque, NM

2009-12-01

A nanoelectrode array comprises a plurality of nanoelectrodes wherein the geometric dimensions of the electrode controls the electrochemical response, and the current density is independent of time. By combining a massive array of nanoelectrodes in parallel, the current signal can be amplified while still retaining the beneficial geometric advantages of nanoelectrodes. Such nanoelectrode arrays can be used in a sensor system for rapid, non-contaminating field analysis. For example, an array of suitably functionalized nanoelectrodes can be incorporated into a small, integrated sensor system that can identify many species rapidly and simultaneously under field conditions in high-resistivity water, without the need for chemical addition to increase conductivity.

Unexpected structural complexity of supernumerary marker chromosomes characterized by microarray comparative genomic hybridization

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Hing Anne V

2008-04-01

Full Text Available Abstract Background Supernumerary marker chromosomes (SMCs are structurally abnormal extra chromosomes that cannot be unambiguously identified by conventional banding techniques. In the past, SMCs have been characterized using a variety of different molecular cytogenetic techniques. Although these techniques can sometimes identify the chromosome of origin of SMCs, they are cumbersome to perform and are not available in many clinical cytogenetic laboratories. Furthermore, they cannot precisely determine the region or breakpoints of the chromosome(s involved. In this study, we describe four patients who possess one or more SMCs (a total of eight SMCs in all four patients that were characterized by microarray comparative genomic hybridization (array CGH. Results In at least one SMC from all four patients, array CGH uncovered unexpected complexity, in the form of complex rearrangements, that could have gone undetected using other molecular cytogenetic techniques. Although array CGH accurately defined the chromosome content of all but two minute SMCs, fluorescence in situ hybridization was necessary to determine the structure of the markers. Conclusion The increasing use of array CGH in clinical cytogenetic laboratories will provide an efficient method for more comprehensive characterization of SMCs. Improved SMC characterization, facilitated by array CGH, will allow for more accurate SMC/phenotype correlation.

Leakage analysis of crossbar memristor arrays

KAUST Repository

Zidan, Mohammed A.; Salem, Ahmed Sultan; Fahmy, Hossam Aly Hassan; Salama, Khaled N.

2014-01-01

the readout operation. In this work we study the trade-off between the crossbar array density and the power consumption required for its readout. Our analysis is based on simulating full memristor arrays on a SPICE platform.

Application of Microarray-Based Comparative Genomic Hybridization in Prenatal and Postnatal Settings: Three Case Reports

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Jing Liu

2011-01-01

Full Text Available Microarray-based comparative genomic hybridization (array CGH is a newly emerged molecular cytogenetic technique for rapid evaluation of the entire genome with sub-megabase resolution. It allows for the comprehensive investigation of thousands and millions of genomic loci at once and therefore enables the efficient detection of DNA copy number variations (a.k.a, cryptic genomic imbalances. The development and the clinical application of array CGH have revolutionized the diagnostic process in patients and has provided a clue to many unidentified or unexplained diseases which are suspected to have a genetic cause. In this paper, we present three clinical cases in both prenatal and postnatal settings. Among all, array CGH played a major discovery role to reveal the cryptic and/or complex nature of chromosome arrangements. By identifying the genetic causes responsible for the clinical observation in patients, array CGH has provided accurate diagnosis and appropriate clinical management in a timely and efficient manner.

Comparing temporally-focused GPC and CGH for two-photon excitation and optogenetics in turbid media

DEFF Research Database (Denmark)

Villangca, Mark Jayson; Bañas, Andrew Rafael; Aabo, Thomas

2013-01-01

a 4f setup that directly converts phase information to intensity. The GPC method has been used with temporal focusing for excitation in two-photon optogenetics [1-3]. The computer generated hologram (CGH) is also used to generate arbitrary light patterns and has been used for optical manipulation...

Solar array qualification through qualified analysis

Science.gov (United States)

Zijdemans, J.; Cruijssen, H. J.; Wijker, J. J.

1991-04-01

To achieve qualification is in general a very expensive exercise. For solar arrays this is done by a dedicated test program through which final qualification is achieved. Due to severe competition on the solar array market, cheaper means are looked for to achieve a qualified product for the customers. One of the methods is to drastically limit the environmental test program and to qualify the solar-array structure against its environmental loads by analysis. Qualification by analysis is possible. The benefits are that a significant amount of development effort can be saved in case such a powerful tool is available. Extensive testing can be avoided thus saving time and money.

Cross-species comparison of aCGH data from mouse and human BRCA1- and BRCA2-mutated breast cancers

International Nuclear Information System (INIS)

Holstege, Henne; Wessels, Lodewyk FA; Nederlof, Petra M; Jonkers, Jos; Beers, Erik van; Velds, Arno; Liu, Xiaoling; Joosse, Simon A; Klarenbeek, Sjoerd; Schut, Eva; Kerkhoven, Ron; Klijn, Christiaan N

2010-01-01

Genomic gains and losses are a result of genomic instability in many types of cancers. BRCA1- and BRCA2-mutated breast cancers are associated with increased amounts of chromosomal aberrations, presumably due their functions in genome repair. Some of these genomic aberrations may harbor genes whose absence or overexpression may give rise to cellular growth advantage. So far, it has not been easy to identify the driver genes underlying gains and losses. A powerful approach to identify these driver genes could be a cross-species comparison of array comparative genomic hybridization (aCGH) data from cognate mouse and human tumors. Orthologous regions of mouse and human tumors that are commonly gained or lost might represent essential genomic regions selected for gain or loss during tumor development. To identify genomic regions that are associated with BRCA1- and BRCA2-mutated breast cancers we compared aCGH data from 130 mouse Brca1 Δ/Δ ;p53 Δ/Δ , Brca2 Δ/Δ ;p53 Δ/Δ and p53 Δ/Δ mammary tumor groups with 103 human BRCA1-mutated, BRCA2-mutated and non-hereditary breast cancers. Our genome-wide cross-species analysis yielded a complete collection of loci and genes that are commonly gained or lost in mouse and human breast cancer. Principal common CNAs were the well known MYC-associated gain and RB1/INTS6-associated loss that occurred in all mouse and human tumor groups, and the AURKA-associated gain occurred in BRCA2-related tumors from both species. However, there were also important differences between tumor profiles of both species, such as the prominent gain on chromosome 10 in mouse Brca2 Δ/Δ ;p53 Δ/Δ tumors and the PIK3CA associated 3q gain in human BRCA1-mutated tumors, which occurred in tumors from one species but not in tumors from the other species. This disparity in recurrent aberrations in mouse and human tumors might be due to differences in tumor cell type or genomic organization between both species. The selection of the oncogenome during

A novel deletion in the thyrotropin Beta-subunit gene identified by array comparative genomic hybridization analysis causes central congenital hypothyroidism in a boy originating from Turkey.

Science.gov (United States)

Hermanns, Pia; Couch, Robert; Leonard, Norma; Klotz, Cherise; Pohlenz, Joachim

2014-01-01

Isolated central congenital hypothyroidism (ICCH) is rare but important. Most ICCH patients are diagnosed later, which results in severe growth failure and intellectual disability. We describe a boy with ICCH due to a large homozygous TSHβ gene deletion. A 51-day-old male Turkish infant, whose parents were first cousins, was admitted for evaluation of prolonged jaundice. His clinical appearance was compatible with hypothyroidism. Venous thyrotropin (TSH) was undetectably low, with a subsequent low free T4 and a low free T3, suggestive of central hypothyroidism. Using different PCR protocols, we could not amplify both coding exons of the boy's TSHβ gene, which suggested a deletion. An array comparative genomic hybridization (aCGH) using specific probes around the TSHβ gene locus showed him to be homozygous for a 6-kb deletion spanning all exons and parts of the 5' untranslated region of the gene. Infants who are clinically suspected of having hypothyroidism should be evaluated thoroughly, even if their TSH-based screening result is normal. In cases with ICCH and undetectably low TSH serum concentrations, a TSHβ gene deletion should be considered; aCGH should be performed when gene deletions are suspected. In such cases, PCR-based sequencing techniques give negative results.

NF2 tumor suppressor gene: a comprehensive and efficient detection of somatic mutations by denaturing HPLC and microarray-CGH.

Science.gov (United States)

Szijan, Irene; Rochefort, Daniel; Bruder, Carl; Surace, Ezequiel; Machiavelli, Gloria; Dalamon, Viviana; Cotignola, Javier; Ferreiro, Veronica; Campero, Alvaro; Basso, Armando; Dumanski, Jan P; Rouleau, Guy A

2003-01-01

The NF2 tumor suppressor gene, located in chromosome 22q12, is involved in the development of multiple tumors of the nervous system, either associated with neurofibromatosis 2 or sporadic ones, mainly schwannomas and meningiomas. In order to evaluate the role of the NF2 gene in sporadic central nervous system (CNS) tumors, we analyzed NF2 mutations in 26 specimens: 14 meningiomas, 4 schwannomas, 4 metastases, and 4 other histopathological types of neoplasms. Denaturing high performance liquid chromatography (denaturing HPLC) and comparative genomic hybridization on a DNA microarray (microarray- CGH) were used as scanning methods for small mutations and gross rearrangements respectively. Small mutations were identified in six out of seventeen meningiomas and schwannomas, one mutation was novel. Large deletions were detected in six meningiomas. All mutations were predicted to result in truncated protein or in the absence of a large protein domain. No NF2 mutations were found in other histopathological types of CNS tumors. These results provide additional evidence that mutations in the NF2 gene play an important role in the development of sporadic meningiomas and schwannomas. Denaturing HPLC analysis of small mutations and microarray-CGH of large deletions are complementary, fast, and efficient methods for the detection of mutations in tumor tissues.

[Analysis of genetics mechanism for the phenotypic diversity in a patient carrying a rare ring chromosome 9].

Science.gov (United States)

Qin, Shengfang; Wang, Xueyan; Li, Yunxing; Wei, Ping; Chen, Chun; Zeng, Lan

2016-02-01

To explore the genetics mechanism for the phenotypic variability in a patient carrying a rare ring chromosome 9. The karyotype of the patient was analyzed with cytogenetics method. Presence of sex chromosome was confirmed with fluorescence in situ hybridization. The SRY gene was subjected to PCR amplification and direct sequencing. Potential deletion and duplication were detected with array-based comparative genomic hybridization (array-CGH). The karyotype of the patient has comprised 6 types of cell lines containing a ring chromosome 9. The SRY gene sequence was normal. By array-CGH, the patient has carried a hemizygous deletion at 9p24.3-p23 (174 201-9 721 761) encompassing 30 genes from Online Mendelian Inheritance in Man. The phenotypic variability of the 9p deletion syndrome in conjunct with ring chromosome 9 may be attributable to multiple factors including loss of chromosomal material, insufficient dosage of genes, instability of ring chromosome, and pattern of inheritance.

Prenatal diagnosis of Wolf-Hirschhorn syndrome confirmed by comparative genomic hybridization array: report of two cases and review of the literature

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Sifakis Stavros

2012-02-01

Full Text Available Abstract Wolf-Hirschhorn syndrome (WHS is a well known genetic condition caused by a partial deletion of the short arm of chromosome 4. The great variability in the extent of the 4p deletion and the possible contribution of additional genetic rearrangements lead to a wide spectrum of clinical manifestations. The majority of the reports of prenatally diagnosed WHS cases are associated with large 4p deletions identified by conventional chromosome analysis; however, the widespread clinical use of novel molecular techniques such as array comparative genomic hybridization (a-CGH has increased the detection rate of submicroscopic chromosomal aberrations associated with WHS phenotype. We provide a report of two fetuses with WHS presenting with intrauterine growth restriction as an isolated finding or combined with oligohydramnios and abnormal Doppler waveform in umbilical artery and uterine arteries. Standard karyotyping demonstrated a deletion on chromosome 4 in both cases [del(4(p15.33 and del(4(p15.31, respectively] and further application of a-CGH confirmed the diagnosis and offered a precise characterization of the genetic defect. A detailed review of the currently available literature on the prenatal diagnostic approach of WHS in terms of fetal sonographic assessment and molecular cytogenetic investigation is also provided.

Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array CGH

Science.gov (United States)

Ichimura, Koichi; Mungall, Andrew J; Fiegler, Heike; Pearson, Danita M.; Dunham, Ian; Carter, Nigel P; Collins, V. Peter

2009-01-01

Deletions of chromosome 6 are a common abnormality in diverse human malignancies including astrocytic tumours, suggesting the presence of tumour suppressor genes (TSG). In order to help identify candidate TSGs, we have constructed a chromosome 6 tile path microarray. The array contains 1780 clones (778 PACs and 1002 BACs) that cover 98.3% of the published chromosome 6 sequences. A total of 104 adult astrocytic tumours (10 diffuse astrocytomas, 30 anaplastic astrocytomas (AA), 64 glioblastomas (GB)) were analysed using this array. Single copy number change was successfully detected and the result was in general concordant with a microsatellite analysis. The pattern of copy number change was complex with multiple interstitial deletions/gains. However, a predominance of telomeric 6q deletions was seen. Two small common and overlapping regions of deletion at 6q26 were identified. One was 1002 kb in size and contained PACRG and QKI, while the second was 199 kb and harbours a single gene, ARID1B. The data show that the chromosome 6 tile path array is useful in mapping copy number changes with high resolution and accuracy. We confirmed the high frequency of chromosome 6 deletions in AA and GB, and identified two novel commonly deleted regions that may harbour TSGs. PMID:16205629

Update-in-Place Analysis for True Multidimensional Arrays

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Steven M. Fitzgerald

1996-01-01

Full Text Available Applicative languages have been proposed for defining algorithms for parallel architectures because they are implicitly parallel and lack side effects. However, straightforward implementations of applicative-language compilers may induce large amounts of copying to preserve program semantics. The unnecessary copying of data can increase both the execution time and the memory requirements of an application. To eliminate the unnecessary copying of data, the Sisal compiler uses both build-in-place and update-in-place analyses. These optimizations remove unnecessary array copy operations through compile-time analysis. Both build-in-place and update-in-place are based on hierarchical ragged arrays, i.e., the vector-of-vectors array model. Although this array model is convenient for certain applications, many optimizations are precluded, e.g., vectorization. To compensate for this deficiency, new languages, such as Sisal 2.0, have extended array models that allow for both high-level array operations to be performed and efficient implementations to be devised. In this article, we introduce a new method to perform update-in-place analysis that is applicable to arrays stored either in hierarchical or in contiguous storage. Consequently, the array model that is appropriate for an application can be selected without the loss of performance. Moreover, our analysis is more amenable for distributed memory and large software systems.

Hybrid Information Flow Analysis for Programs with Arrays

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Gergö Barany

2016-07-01

Full Text Available Information flow analysis checks whether certain pieces of (confidential data may affect the results of computations in unwanted ways and thus leak information. Dynamic information flow analysis adds instrumentation code to the target software to track flows at run time and raise alarms if a flow policy is violated; hybrid analyses combine this with preliminary static analysis. Using a subset of C as the target language, we extend previous work on hybrid information flow analysis that handled pointers to scalars. Our extended formulation handles arrays, pointers to array elements, and pointer arithmetic. Information flow through arrays of pointers is tracked precisely while arrays of non-pointer types are summarized efficiently. A prototype of our approach is implemented using the Frama-C program analysis and transformation framework. Work on a full machine-checked proof of the correctness of our approach using Isabelle/HOL is well underway; we present the existing parts and sketch the rest of the correctness argument.

Fault Analysis in Solar Photovoltaic Arrays

Science.gov (United States)

Zhao, Ye

Fault analysis in solar photovoltaic (PV) arrays is a fundamental task to increase reliability, efficiency and safety in PV systems. Conventional fault protection methods usually add fuses or circuit breakers in series with PV components. But these protection devices are only able to clear faults and isolate faulty circuits if they carry a large fault current. However, this research shows that faults in PV arrays may not be cleared by fuses under some fault scenarios, due to the current-limiting nature and non-linear output characteristics of PV arrays. First, this thesis introduces new simulation and analytic models that are suitable for fault analysis in PV arrays. Based on the simulation environment, this thesis studies a variety of typical faults in PV arrays, such as ground faults, line-line faults, and mismatch faults. The effect of a maximum power point tracker on fault current is discussed and shown to, at times, prevent the fault current protection devices to trip. A small-scale experimental PV benchmark system has been developed in Northeastern University to further validate the simulation conclusions. Additionally, this thesis examines two types of unique faults found in a PV array that have not been studied in the literature. One is a fault that occurs under low irradiance condition. The other is a fault evolution in a PV array during night-to-day transition. Our simulation and experimental results show that overcurrent protection devices are unable to clear the fault under "low irradiance" and "night-to-day transition". However, the overcurrent protection devices may work properly when the same PV fault occurs in daylight. As a result, a fault under "low irradiance" and "night-to-day transition" might be hidden in the PV array and become a potential hazard for system efficiency and reliability.

Copy number variations in Saudi family with intellectual disability and epilepsy.

Science.gov (United States)

Naseer, Muhammad I; Chaudhary, Adeel G; Rasool, Mahmood; Kalamegam, Gauthaman; Ashgan, Fai T; Assidi, Mourad; Ahmed, Farid; Ansari, Shakeel A; Zaidi, Syed Kashif; Jan, Mohammed M; Al-Qahtani, Mohammad H

2016-10-17

Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis. Our results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics 3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2, GSTTP2, DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21 (4303127-4337759) and the potential gene in this region is CSMD1 (OMIM: 612279). Moreover, the array CGH results deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs using simple PCR and also by using quantitative real time PCR. We found some of the de novo deletions and duplication in our study in Saudi family with intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing epileptic disorder, may help to improve the clinical

Performance Analysis of Digital loudspeaker Arrays

DEFF Research Database (Denmark)

Pedersen, Bo Rohde; Kontomichos, Fotios; Mourjopoulos, John

2008-01-01

An analysis of digital loudspeaker arrays shows that the ways in which bits are mapped to the drivers influence the quality of the audio result. Specifically, a "bit-summed" rather than the traditional "bit-mapped" strategy greatly reduces the number of times drivers make binary transitions per...... period of the input frequency. Detailed simulations compare the results for a 32-loudspeaker array with a similar configuration with analog excitation of the drivers. Ideally, drivers in digital arrays should be very small and span a small area, but that sets limits on the low-frequency response...

A High-Throughput Computational Framework for Identifying Significant Copy Number Aberrations from Array Comparative Genomic Hybridisation Data

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Ian Roberts

2012-01-01

Full Text Available Reliable identification of copy number aberrations (CNA from comparative genomic hybridization data would be improved by the availability of a generalised method for processing large datasets. To this end, we developed swatCGH, a data analysis framework and region detection heuristic for computational grids. swatCGH analyses sequentially displaced (sliding windows of neighbouring probes and applies adaptive thresholds of varying stringency to identify the 10% of each chromosome that contains the most frequently occurring CNAs. We used the method to analyse a published dataset, comparing data preprocessed using four different DNA segmentation algorithms, and two methods for prioritising the detected CNAs. The consolidated list of the most commonly detected aberrations confirmed the value of swatCGH as a simplified high-throughput method for identifying biologically significant CNA regions of interest.

Chromosomal analysis of blastocyst derived from monopronucleated ICSI zygotes: approach by double trophectoderm biopsy.

Science.gov (United States)

Mateo, Silvia; Vidal, Francesca; Coll, Lluc; Veiga, Anna; Boada, Montserrat

2017-09-01

This study aims to increase the knowledge about monopronucleated ICSI-derived blastocysts, analyzing trophectoderm biopsies by aCGH and FISH to evaluate their chromosome constitution. Fifteen monopronucleated ICSI-derived blastocysts were studied. Double trophectoderm biopsy was performed and analyzed by FISH and aCGH. The blastocysts were classified according to chromosome constitution. Disagreements between the two techniques were assessed. Results obtained after FISH and aCGH analyses showed the following: 20% (3/15) and 60% (9/15) diploid females, respectively; 26.7% (4/15) and 26.7% (4/15) diploid males, respectively; and 53.3% (8/15) and 13.3% (2/15) mosaics, respectively. No mosaic male embryos were found using FISH or aCGH. There were disagreements in 40% (6/15) of the cases due to the higher detection of mosaicism by FISH compared to aCGH. The combination of FISH and aCGH has been shown to be a suitable approach to increase the knowledge about monopronucleated ICSI-derived embryos. FISH analysis of blastocysts derived from monopronucleated ICSI zygotes enabled us to conclude that aCGH underestimates haploidy. Some diploid embryos diagnosed by aCGH are in fact mosaic. In cases where these embryos would be used for reproductive purposes, extra analysis of parental genome origin is recommended.

Balanced into array : genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis

NARCIS (Netherlands)

Feenstra, Ilse; Hanemaaijer, Nicolien; Sikkema-Raddatz, Birgit; Yntema, Helger; Dijkhuizen, Trijnie; Lugtenberg, Dorien; Verheij, Joke; Green, Andrew; Hordijk, Roel; Reardon, William; de Vries, Bert; Brunner, Han; Bongers, Ernie; de Leeuw, Nicole; van Ravenswaaij-Arts, Conny

2011-01-01

High-resolution genome-wide array analysis enables detailed screening for cryptic and submicroscopic imbalances of microscopically balanced de novo rearrangements in patients with developmental delay and/or congenital abnormalities. In this report, we added the results of genome-wide array analysis

GAB2 Amplification in Squamous Cell Lung Cancer of Non-Smokers.

Science.gov (United States)

Park, Yu Rang; Bae, Soo Hyeon; Ji, Wonjun; Seo, Eul Ju; Lee, Jae Cheol; Kim, Hyeong Ryul; Jang, Se Jin; Choi, Chang Min

2017-11-01

Lung squamous cell cancer (SCC) is typically found in smokers and has a very low incidence in non-smokers, indicating differences in the tumor biology of lung SCC in smokers and non-smokers. However, the specific mutations that drive tumor growth in non-smokers have not been identified. To identify mutations in lung SCC of non-smokers, we performed a genetic analysis using arrays comparative genomic hybridization (ArrayCGH). We analyzed 19 patients with lung SCC who underwent surgical treatment between April 2005 and April 2015. Clinical characteristics were reviewed, and DNA was extracted from fresh frozen lung cancer specimens. All of copy number alterations from ArrayCGH were validated using The Cancer Genome Atlas (TCGA) copy number variation (CNV) data of lung SCC. We examined the frequency of copy number changes according to the smoking status (non-smoker [n = 8] or smoker [n = 11]). We identified 16 significantly altered regions from ArrayCGH data, three gain and four loss regions overlapped with the TCGA lung squamous cell carcinoma (LUSC) patients. Within these overlapped significant regions, we detected 15 genes that have been reported in the Cancer Gene census. We also found that the proto-oncogene GAB2 (11q14.1) was significantly amplified in non-smokers patients and vice versa in both ArrayCGH and TCGA data. Immunohistochemical analyses showed that GAB2 protein was relatively upregulated in non-smoker than smoker tissues (37.5% vs. 9.0%, P = 0.007). GAB2 amplification may have an important role in the development of lung SCC in non-smokers. GAB2 may represent a potential biomarker for lung SCC in non-smokers. © 2017 The Korean Academy of Medical Sciences.

An integrated analysis of miRNA and gene copy numbers in xenografts of Ewing's sarcoma

Directory of Open Access Journals (Sweden)

Mosakhani Neda

2012-03-01

Full Text Available Abstract Background Xenografts have been shown to provide a suitable source of tumor tissue for molecular analysis in the absence of primary tumor material. We utilized ES xenograft series for integrated microarray analyses to identify novel biomarkers. Method Microarray technology (array comparative genomic hybridization (aCGH and micro RNA arrays was used to screen and identify copy number changes and differentially expressed miRNAs of 34 and 14 passages, respectively. Incubated cells used for xenografting (Passage 0 were considered to represent the primary tumor. Four important differentially expressed miRNAs (miR-31, miR-31*, miR-145, miR-106 were selected for further validation by real time polymerase chain reaction (RT-PCR. Integrated analysis of aCGH and miRNA data was performed on 14 xenograft passages by bioinformatic methods. Results The most frequent losses and gains of DNA copy number were detected at 9p21.3, 16q and at 8, 15, 17q21.32-qter, 1q21.1-qter, respectively. The presence of these alterations was consistent in all tumor passages. aCGH profiles of xenograft passages of each series resembled their corresponding primary tumors (passage 0. MiR-21, miR-31, miR-31*, miR-106b, miR-145, miR-150*, miR-371-5p, miR-557 and miR-598 showed recurrently altered expression. These miRNAS were predicted to regulate many ES-associated genes, such as genes of the IGF1 pathway, EWSR1, FLI1 and their fusion gene (EWS-FLI1. Twenty differentially expressed miRNAs were pinpointed in regions carrying altered copy numbers. Conclusion In the present study, ES xenografts were successfully applied for integrated microarray analyses. Our findings showed expression changes of miRNAs that were predicted to regulate many ES associated genes, such as IGF1 pathway genes, FLI1, EWSR1, and the EWS-FLI1 fusion genes.

Waveguide Phased Array Antenna Analysis and Synthesis

NARCIS (Netherlands)

Visser, H.J.; Keizer, W.P.M.N.

1996-01-01

Results of two software packages for analysis and synthesis of waveguide phased array antennas are shown. The antennas consist of arrays of open-ended waveguides where irises can be placed in the waveguide apertures and multiple dielectric sheets in front of the apertures in order to accomplish a

Genome wide single cell analysis of chemotherapy resistant metastatic cells in a case of gastroesophageal adenocarcinoma

International Nuclear Information System (INIS)

Hjortland, Geir Olav; Fodstad, Oystein; Smeland, Sigbjorn; Hovig, Eivind; Meza-Zepeda, Leonardo A; Beiske, Klaus; Ree, Anne H; Tveito, Siri; Hoifodt, Hanne; Bohler, Per J; Hole, Knut H; Myklebost, Ola

2011-01-01

Metastatic progression due to development or enrichment of therapy-resistant tumor cells is eventually lethal. Molecular characterization of such chemotherapy resistant tumor cell clones may identify markers responsible for malignant progression and potential targets for new treatment. Here, in a case of stage IV adenocarcinoma of the gastroesophageal junction, we report the successful genome wide analysis using array comparative genomic hybridization (CGH) of DNA from only fourteen tumor cells using a bead-based single cell selection method from a bone metastasis progressing during chemotherapy. In a case of metastatic adenocarcinoma of the gastroesophageal junction, the progression of bone metastasis was observed during a chemotherapy regimen of epirubicin, oxaliplatin and capecitabine, whereas lung-, liver and lymph node metastases as well as the primary tumor were regressing. A bone marrow aspirate sampled at the site of progressing metastasis in the right iliac bone was performed, and single cell molecular analysis using array-CGH of Epithelial Specific Antigen (ESA)-positive metastatic cells, and revealed two distinct regions of amplification, 12p12.1 and 17q12-q21.2 amplicons, containing the KRAS (12p) and ERBB2 (HER2/NEU) (17q) oncogenes. Further intrapatient tumor heterogeneity of these highlighted gene copy number changes was analyzed by fluorescence in situ hybridization (FISH) in all available primary and metastatic tumor biopsies, and ErbB2 protein expression was investigated by immunohistochemistry. ERBB2 was heterogeneously amplified by FISH analysis in the primary tumor, as well as liver and bone metastasis, but homogenously amplified in biopsy specimens from a progressing bone metastasis after three initial cycles of chemotherapy, indicating a possible enrichment of erbB2 positive tumor cells in the progressing bone marrow metastasis during chemotherapy. A similar amplification profile was detected for wild-type KRAS, although more heterogeneously

New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

Directory of Open Access Journals (Sweden)

Lorena Rodrigo

2014-01-01

Full Text Available The objective of this study was to evaluate the usefulness of comprehensive chromosome screening (CCS using array comparative genomic hybridization (aCGH. The study included 1420 CCS cycles for recurrent miscarriage (n=203; repetitive implantation failure (n=188; severe male factor (n=116; previous trisomic pregnancy (n=33; and advanced maternal age (n=880. CCS was performed in cycles with fresh oocytes and embryos (n=774; mixed cycles with fresh and vitrified oocytes (n=320; mixed cycles with fresh and vitrified day-2 embryos (n=235; and mixed cycles with fresh and vitrified day-3 embryos (n=91. Day-3 embryo biopsy was performed and analyzed by aCGH followed by day-5 embryo transfer. Consistent implantation (range: 40.5–54.2% and pregnancy rates per transfer (range: 46.0–62.9% were obtained for all the indications and independently of the origin of the oocytes or embryos. However, a lower delivery rate per cycle was achieved in women aged over 40 years (18.1% due to the higher percentage of aneuploid embryos (85.3% and lower number of cycles with at least one euploid embryo available per transfer (40.3%. We concluded that aneuploidy is one of the major factors which affect embryo implantation.

SEURAT: visual analytics for the integrated analysis of microarray data.

Science.gov (United States)

Gribov, Alexander; Sill, Martin; Lück, Sonja; Rücker, Frank; Döhner, Konstanze; Bullinger, Lars; Benner, Axel; Unwin, Antony

2010-06-03

In translational cancer research, gene expression data is collected together with clinical data and genomic data arising from other chip based high throughput technologies. Software tools for the joint analysis of such high dimensional data sets together with clinical data are required. We have developed an open source software tool which provides interactive visualization capability for the integrated analysis of high-dimensional gene expression data together with associated clinical data, array CGH data and SNP array data. The different data types are organized by a comprehensive data manager. Interactive tools are provided for all graphics: heatmaps, dendrograms, barcharts, histograms, eventcharts and a chromosome browser, which displays genetic variations along the genome. All graphics are dynamic and fully linked so that any object selected in a graphic will be highlighted in all other graphics. For exploratory data analysis the software provides unsupervised data analytics like clustering, seriation algorithms and biclustering algorithms. The SEURAT software meets the growing needs of researchers to perform joint analysis of gene expression, genomical and clinical data.

SEURAT: Visual analytics for the integrated analysis of microarray data

Directory of Open Access Journals (Sweden)

Bullinger Lars

2010-06-01

Full Text Available Abstract Background In translational cancer research, gene expression data is collected together with clinical data and genomic data arising from other chip based high throughput technologies. Software tools for the joint analysis of such high dimensional data sets together with clinical data are required. Results We have developed an open source software tool which provides interactive visualization capability for the integrated analysis of high-dimensional gene expression data together with associated clinical data, array CGH data and SNP array data. The different data types are organized by a comprehensive data manager. Interactive tools are provided for all graphics: heatmaps, dendrograms, barcharts, histograms, eventcharts and a chromosome browser, which displays genetic variations along the genome. All graphics are dynamic and fully linked so that any object selected in a graphic will be highlighted in all other graphics. For exploratory data analysis the software provides unsupervised data analytics like clustering, seriation algorithms and biclustering algorithms. Conclusions The SEURAT software meets the growing needs of researchers to perform joint analysis of gene expression, genomical and clinical data.

Integration of microarray analysis into the clinical diagnosis of hematological malignancies: How much can we improve cytogenetic testing?

Science.gov (United States)

Peterson, Jess F.; Aggarwal, Nidhi; Smith, Clayton A.; Gollin, Susanne M.; Surti, Urvashi; Rajkovic, Aleksandar; Swerdlow, Steven H.; Yatsenko, Svetlana A.

2015-01-01

Purpose To evaluate the clinical utility, diagnostic yield and rationale of integrating microarray analysis in the clinical diagnosis of hematological malignancies in comparison with classical chromosome karyotyping/fluorescence in situ hybridization (FISH). Methods G-banded chromosome analysis, FISH and microarray studies using customized CGH and CGH+SNP designs were performed on 27 samples from patients with hematological malignancies. A comprehensive comparison of the results obtained by three methods was conducted to evaluate benefits and limitations of these techniques for clinical diagnosis. Results Overall, 89.7% of chromosomal abnormalities identified by karyotyping/FISH studies were also detectable by microarray. Among 183 acquired copy number alterations (CNAs) identified by microarray, 94 were additional findings revealed in 14 cases (52%), and at least 30% of CNAs were in genomic regions of diagnostic/prognostic significance. Approximately 30% of novel alterations detected by microarray were >20 Mb in size. Balanced abnormalities were not detected by microarray; however, of the 19 apparently “balanced” rearrangements, 55% (6/11) of recurrent and 13% (1/8) of non-recurrent translocations had alterations at the breakpoints discovered by microarray. Conclusion Microarray technology enables accurate, cost-effective and time-efficient whole-genome analysis at a resolution significantly higher than that of conventional karyotyping and FISH. Array-CGH showed advantage in identification of cryptic imbalances and detection of clonal aberrations in population of non-dividing cancer cells and samples with poor chromosome morphology. The integration of microarray analysis into the cytogenetic diagnosis of hematologic malignancies has the potential to improve patient management by providing clinicians with additional disease specific and potentially clinically actionable genomic alterations. PMID:26299921

Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.

Directory of Open Access Journals (Sweden)

Douglas C Bittel

Full Text Available Tetralogy of Fallot (TOF is one of the most common severe congenital heart malformations. Great progress has been made in identifying key genes that regulate heart development, yet approximately 70% of TOF cases are sporadic and nonsyndromic with no known genetic cause. We created an ultra high-resolution gene centric comparative genomic hybridization (gcCGH microarray based on 591 genes with a validated association with cardiovascular development or function. We used our gcCGH array to analyze the genomic structure of 34 infants with sporadic TOF without a deletion on chromosome 22q11.2 (n male = 20; n female = 14; age range of 2 to 10 months. Using our custom-made gcCGH microarray platform, we identified a total of 613 copy number variations (CNVs ranging in size from 78 base pairs to 19.5 Mb. We identified 16 subjects with 33 CNVs that contained 13 different genes which are known to be directly associated with heart development. Additionally, there were 79 genes from the broader list of genes that were partially or completely contained in a CNV. All 34 individuals examined had at least one CNV involving these 79 genes. Furthermore, we had available whole genome exon arrays from right ventricular tissue in 13 of our subjects. We analyzed these for correlations between copy number and gene expression level. Surprisingly, we could detect only one clear association between CNVs and expression (GSTT1 for any of the 591 focal genes on the gcCGH array. The expression levels of GSTT1 were correlated with copy number in all cases examined (r = 0.95, p = 0.001. We identified a large number of small CNVs in genes with varying associations with heart development. Our results illustrate the complexity of human genome structural variation and underscore the need for multifactorial assessment of potential genetic/genomic factors that contribute to congenital heart defects.

Clinical trial involving sufferers and non-sufferers of cervicogenic headache (CGH): potential mechanisms of action of photobiomodulation (Conference Presentation)

Science.gov (United States)

Liebert, Ann D.; Bicknell, Brian

2017-02-01

Photobiomodulation (PBM) is an effective tool for the management of spinal pain including inflammation of facet joints. Apart from cervical and lumbar joint pain the upper cervical spine facet joint inflammation can result in the CGH (traumatic or atraumatic in origin). This condition affects children, adults and elders and is responsible for 19% of chronic headache and up to 33% of patients in pain clinics. The condition responds well to physiotherapy, facet joint injection, radiofrequency neurotomy and surgery at a rate of 75%. The other 25% being unresponsive to treatment with no identified features of unresponsiveness. In other conditions of chronic unresponsive cervical pain have responded to photobiomodulation at a level of 80% in the short and medium term. A clinical trial was therefore conducted on a cohort of atraumatic patients from the ages of 5-93 (predominantly Neurologist referred / familial sufferers 2/3 generations vertically and laterally) who had responded to a course of PBM and physiotherapy. The CGH sufferers and their non CGH suffering relatives over these generations were then compared for features that distinguish the two groups. Fifty parameters were tested (anthropmetric, movement and neural tension tests included) and there was a noted difference in tandem stance between the groups (.04 significance with repeated measures). As this impairment is common to benign ataxia and migrainous vertigo and in these conditions there is an ion channelopathy (especially potassium channelopathy). A postulated mechanism of action of PBM would involve modulation of ion channels and this is discussed in this presentation.

Moving towards personalised therapy in head and neck squamous cell carcinoma through analysis of next generation sequencing data

DEFF Research Database (Denmark)

Giefing, M; Wierzbicka, M; Szyfter, K

2016-01-01

of the discovery and functional impact of recurrent genetic lesions that are likely to influence the management of this disease in the near future. This manuscript integrates genetic data from publicly available array comparative genome hybridization (aCGH) and next-generation sequencing genetics databases...

Copy number variations in Saudi family with intellectual disability and epilepsy

Directory of Open Access Journals (Sweden)

Muhammad I. Naseer

2016-10-01

Full Text Available Abstract Background Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. Results In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID, and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis. Our results showed de novo deletions, duplications and deletion plus duplication on differential chromosomal regions in the affected individuals that were not shown in the normal fathe and normal kids by using Agilent CytoGenomics 3.0.6.6 softwear. Copy number gain were observed in the chromosome 1, 16 and 22 with LCE3C, HPR, GSTT2, GSTTP2, DDT and DDTL genes respectively whereas the deletions observed in the chromosomal regions 8p23-p21 (4303127–4337759 and the potential gene in this region is CSMD1 (OMIM: 612279. Moreover, the array CGH results deletions and duplication were also validated by using primer design of deleted regions utilizing the flanked SNPs using simple PCR and also by using quantitative real time PCR. Conclusions We found some of the de novo deletions and duplication in our study in Saudi family with intellectual disability and epilepsy. Our results suggest that array-CGH should be used as a first line of genetic test for epilepsy except there is a strong indication for a monogenic syndrome. The advanced high through put array-CGH technique used in this study aim to collect the data base and to identify new mechanisms describing

Chromosomes of Iberian Leuciscinae (Cyprinidae) Revisited: Evidence of Genome Restructuring in Homoploid Hybrids Using Dual-Color FISH and CGH

Czech Academy of Sciences Publication Activity Database

Pereira, C. S.; Ráb, Petr; Collares-Pereira, M. J.

2013-01-01

Roč. 141, 2/3 (2013), s. 143-152 ISSN 1424-8581 R&D Projects: GA ČR GA13-37277S Institutional support: RVO:67985904 Keywords : CGH/GISH * Chondrostoma s.I. * genome reshuffling hybridization Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.905, year: 2013

HTGR core seismic analysis using an array processor

International Nuclear Information System (INIS)

Shatoff, H.; Charman, C.M.

1983-01-01

A Floating Point Systems array processor performs nonlinear dynamic analysis of the high-temperature gas-cooled reactor (HTGR) core with significant time and cost savings. The graphite HTGR core consists of approximately 8000 blocks of various shapes which are subject to motion and impact during a seismic event. Two-dimensional computer programs (CRUNCH2D, MCOCO) can perform explicit step-by-step dynamic analyses of up to 600 blocks for time-history motions. However, use of two-dimensional codes was limited by the large cost and run times required. Three-dimensional analysis of the entire core, or even a large part of it, had been considered totally impractical. Because of the needs of the HTGR core seismic program, a Floating Point Systems array processor was used to enhance computer performance of the two-dimensional core seismic computer programs, MCOCO and CRUNCH2D. This effort began by converting the computational algorithms used in the codes to a form which takes maximum advantage of the parallel and pipeline processors offered by the architecture of the Floating Point Systems array processor. The subsequent conversion of the vectorized FORTRAN coding to the array processor required a significant programming effort to make the system work on the General Atomic (GA) UNIVAC 1100/82 host. These efforts were quite rewarding, however, since the cost of running the codes has been reduced approximately 50-fold and the time threefold. The core seismic analysis with large two-dimensional models has now become routine and extension to three-dimensional analysis is feasible. These codes simulate the one-fifth-scale full-array HTGR core model. This paper compares the analysis with the test results for sine-sweep motion

Gene expression profile and genomic alterations in colonic tumours induced by 1,2-dimethylhydrazine (DMH) in rats

International Nuclear Information System (INIS)

Femia, Angelo Pietro; Luceri, Cristina; Toti, Simona; Giannini, Augusto; Dolara, Piero; Caderni, Giovanna

2010-01-01

Azoxymethane (AOM) or 1,2-dimethylhydrazine (DMH)-induced colon carcinogenesis in rats shares many phenotypical similarities with human sporadic colon cancer and is a reliable model for identifying chemopreventive agents. Genetic mutations relevant to human colon cancer have been described in this model, but comprehensive gene expression and genomic analysis have not been reported so far. Therefore, we applied genome-wide technologies to study variations in gene expression and genomic alterations in DMH-induced colon cancer in F344 rats. For gene expression analysis, 9 tumours (TUM) and their paired normal mucosa (NM) were hybridized on 4 × 44K Whole rat arrays (Agilent) and selected genes were validated by semi-quantitative RT-PCR. Functional analysis on microarray data was performed by GenMAPP/MappFinder analysis. Array-comparative genomic hybridization (a-CGH) was performed on 10 paired TUM-NM samples hybridized on Rat genome arrays 2 × 105K (Agilent) and the results were analyzed by CGH Analytics (Agilent). Microarray gene expression analysis showed that Defcr4, Igfbp5, Mmp7, Nos2, S100A8 and S100A9 were among the most up-regulated genes in tumours (Fold Change (FC) compared with NM: 183, 48, 39, 38, 36 and 32, respectively), while Slc26a3, Mptx, Retlna and Muc2 were strongly down-regulated (FC: -500; -376, -167, -79, respectively). Functional analysis showed that pathways controlling cell cycle, protein synthesis, matrix metalloproteinases, TNFα/NFkB, and inflammatory responses were up-regulated in tumours, while Krebs cycle, the electron transport chain, and fatty acid beta oxidation were down-regulated. a-CGH analysis showed that four TUM out of ten had one or two chromosomal aberrations. Importantly, one sample showed a deletion on chromosome 18 including Apc. The results showed complex gene expression alterations in adenocarcinomas encompassing many altered pathways. While a-CGH analysis showed a low degree of genomic imbalance, it is interesting to

Design and Analysis of MEMS Linear Phased Array

Directory of Open Access Journals (Sweden)

Guoxiang Fan

2016-01-01

Full Text Available A structure of micro-electro-mechanical system (MEMS linear phased array based on “multi-cell” element is designed to increase radiation sound pressure of transducer working in bending vibration mode at high frequency. In order to more accurately predict the resonant frequency of an element, the theoretical analysis of the dynamic equation of a fixed rectangular composite plate and finite element method simulation are adopted. The effects of the parameters both in the lateral and elevation direction on the three-dimensional beam directivity characteristics are comprehensively analyzed. The key parameters in the analysis include the “cell” number of element, “cell” size, “inter-cell” spacing and the number of elements, element width. The simulation results show that optimizing the linear array parameters both in the lateral and elevation direction can greatly improve the three-dimensional beam focusing for MEMS linear phased array, which is obviously different from the traditional linear array.

A study of glasses-type color CGH using a color filter considering reduction of blurring

Science.gov (United States)

Iwami, Saki; Sakamoto, Yuji

2009-02-01

We have developed a glasses-type color computer generated hologram (CGH) by using a color filter. The proposed glasses consist of two "lenses" made of overlapping holograms and color filters. The holograms, which are calculated to reconstruct images in each primary color, are divided to small areas, which we called cells, and superimposed on one hologram. In the same way, colors of the filter correspond to the hologram cells. We can configure it very simply without a complex optical system, and the configuration yields a small and light weight system suitable for glasses. When the cell is small enough, the colors are mixed and reconstructed color images are observed. In addition, color expression of reconstruction images improves, too. However, using small cells blurrs reconstructed images because of the following reasons: (1) interference between cells because of the correlation with the cells, and (2) reduction of resolution caused by the size of the cell hologram. We are investigating in order to make a hologram that has high resolution reconstructed color images without ghost images. In this paper, we discuss (1) the details of the proposed glasses-type color CGH, (2) appropriate cell size for an eye system, (3) effects of cell shape on the reconstructed images, and (4) a new method to reduce the blurring of the images.

Analysis of measurements on wind turbine arrays. Vol. 1

International Nuclear Information System (INIS)

Hoeg, E.

1990-12-01

In 1989 a Danish electric power company initiated an analysis of eight wind turbine arrays. Data from this project is presented together with the explained results of the analyses and the output variations for individual arrays and for systems within the arrays. The models for prognosis are compared and evaluated in order to find that which is most effective. (AB)

Global genomic analysis of intraductal papillary mucinous neoplasms of the pancreas reveals significant molecular differences compared to ductal adenocarcinoma.

Science.gov (United States)

Fritz, Stefan; Fernandez-del Castillo, Carlos; Mino-Kenudson, Mari; Crippa, Stefano; Deshpande, Vikram; Lauwers, Gregory Y; Warshaw, Andrew L; Thayer, Sarah P; Iafrate, A John

2009-03-01

To determine whether intraductal papillary mucinous neoplasms of the pancreas (IPMNs) have a different genetic background compared with ductal adenocarcinoma (PDAC). The biologic and clinical behavior of IPMNs and IPMN-associated adenocarcinomas is different from PDAC in having a less aggressive tumor growth and significantly improved survival. Up to date, the molecular mechanisms underlying the clinical behavior of IPMNs are incompletely understood. 128 cystic pancreatic lesions were prospectively identified during the course of 2 years. From the corresponding surgical specimens, 57 IPMNs were separated and subdivided by histologic criteria into those with low-grade dysplasia, moderate dysplasia, high-grade dysplasia, and invasive cancer. Twenty specimens were suitable for DNA isolation and subsequent performance of array CGH. While none of the IPMNs with low-grade dysplasia displayed detectable chromosomal aberrations, IPMNs with moderate and high-grade dysplasia showed frequent copy number alterations. Commonly lost regions were located on chromosome 5q, 6q, 10q, 11q, 13q, 18q, and 22q. The incidence of loss of chromosome 5q, 6q, and 11q was significantly higher in IPMNs with high-grade dysplasia or invasion compared with PDAC. Ten of 13 IPMNs with moderate dysplasia or malignancy had loss of part or all of chromosome 6q, with a minimal deleted region between linear positions 78.0 and 130.0. This study is the first to use array CGH to characterize IPMNs. Recurrent cytogenetic alterations were identified and were different than those described in PDAC. Array CGH may help distinguish between these 2 entities and give insight into the differences in their biology and prognosis.

Quantitative high-resolution genomic analysis of single cancer cells.

Science.gov (United States)

Hannemann, Juliane; Meyer-Staeckling, Sönke; Kemming, Dirk; Alpers, Iris; Joosse, Simon A; Pospisil, Heike; Kurtz, Stefan; Görndt, Jennifer; Püschel, Klaus; Riethdorf, Sabine; Pantel, Klaus; Brandt, Burkhard

2011-01-01

During cancer progression, specific genomic aberrations arise that can determine the scope of the disease and can be used as predictive or prognostic markers. The detection of specific gene amplifications or deletions in single blood-borne or disseminated tumour cells that may give rise to the development of metastases is of great clinical interest but technically challenging. In this study, we present a method for quantitative high-resolution genomic analysis of single cells. Cells were isolated under permanent microscopic control followed by high-fidelity whole genome amplification and subsequent analyses by fine tiling array-CGH and qPCR. The assay was applied to single breast cancer cells to analyze the chromosomal region centred by the therapeutical relevant EGFR gene. This method allows precise quantitative analysis of copy number variations in single cell diagnostics.

Fabrication of plasmonic cavity arrays for SERS analysis

Science.gov (United States)

Li, Ning; Feng, Lei; Teng, Fei; Lu, Nan

2017-05-01

The plasmonic cavity arrays are ideal substrates for surface enhanced Raman scattering analysis because they can provide hot spots with large volume for analyte molecules. The large area increases the probability to make more analyte molecules on hot spots and leads to a high reproducibility. Therefore, to develop a simple method for creating cavity arrays is important. Herein, we demonstrate how to fabricate a V and W shape cavity arrays by a simple method based on self-assembly. Briefly, the V and W shape cavity arrays are respectively fabricated by taking KOH etching on a nanohole and a nanoring array patterned silicon (Si) slides. The nanohole array is generated by taking a reactive ion etching on a Si slide assembled with monolayer of polystyrene (PS) spheres. The nanoring array is generated by taking a reactive ion etching on a Si slide covered with a monolayer of octadecyltrichlorosilane before self-assembling PS spheres. Both plasmonic V and W cavity arrays can provide large hot area, which increases the probability for analyte molecules to deposit on the hot spots. Taking 4-Mercaptopyridine as analyte probe, the enhancement factor can reach 2.99 × 105 and 9.97 × 105 for plasmonic V cavity and W cavity array, respectively. The relative standard deviations of the plasmonic V and W cavity arrays are 6.5% and 10.2% respectively according to the spectra collected on 20 random spots.

Application of the micro-array comparative genomic hybridization technology in preimplantation genetic diagnosis%Array-CGH技术在胚胎植入前遗传学诊断中的应用进展

Institute of Scientific and Technical Information of China (English)

韩丹; 陈大蔚; 曹云霞; 周平

2015-01-01

As a new kind high-throughput genomics technology, micro array-based comparative genomic hybridization (aCGH) has brought the huge change for molecular biology and medical research. Because of the detection range covers the whole genome, high efficiency, easy operation etc, aCGH has been widely used in many areas of human genetic disease diagnosis, tumor genomics, systems biology and prenatal diagnosis. Human preimplantation genetic diagnosis (PGD) is an important part of assisted reproductive technology, with the development of molecular genetics technology, its application range is continuously widening. Based on aCGH technology in PGD for embryonic whole genome screening for aneuploidy and structural abnormalities, human PGD/human preimplantation genetic screening (PGS) implantation rate and clinical pregnancy rate have improved significantly. In this article, we discussed the advantages, disadvantages and prospects of aCGH in prenatal diagnosis.%微阵列比较基因组杂交（aCGH）作为一种新兴的高通量检测技术，给分子生物学及医学研究带来了巨大变化，因其检测范围覆盖全基因组、高效率、操作简便等特点，在人类遗传疾病诊断，肿瘤基因组学，系统生物学研究及产前诊断中已有了广泛应用。植入前遗传学诊断（PGD）是辅助生殖技术的重要组成部分，随着分子遗传学技术的发展，其应用范围也不断拓宽。基于aCGH技术在PGD中对胚胎全染色体组非整倍体及结构异常的筛查，PGD/植入前遗传学筛查（PGS）胚胎植入率和临床妊娠率均有显著提高，本文就aCGH技术在胚胎植入前遗传学诊断中的应用进行综述。

Crosstalk analysis of silicon-on-insulator nanowire-arrayed waveguide grating

International Nuclear Information System (INIS)

Li Kai-Li; An Jun-Ming; Zhang Jia-Shun; Wang Yue; Wang Liang-Liang; Li Jian-Guang; Wu Yuan-Da; Yin Xiao-Jie; Hu Xiong-Wei

2016-01-01

The factors influencing the crosstalk of silicon-on-insulator (SOI) nanowire arrayed waveguide grating (AWG) are analyzed using the transfer function method. The analysis shows that wider and thicker arrayed waveguides, outsider fracture of arrayed waveguide, and larger channel space, could mitigate the deterioration of crosstalk. The SOI nanowire AWGs with different arrayed waveguide widths are fabricated by using deep ultraviolet lithography (DUV) and inductively coupled plasma etching (ICP) technology. The measurement results show that the crosstalk performance is improved by about 7 dB through adopting 800 nm arrayed waveguide width. (paper)

Analysis and synthesis of (SAR) waveguide phased array antennas

Science.gov (United States)

Visser, H. J.

1994-02-01

This report describes work performed due to ESA contract No. 101 34/93/NL/PB. Started is with a literature study on dual polarized waveguide radiators, resulting in the choice for the open ended square waveguide. After a thorough description of the mode matching infinite waveguide array analysis method - including finiteness effects - that forms the basis for all further described analysis and synthesis methods, the accuracy of the analysis software is validated by comparison with measurements on two realized antennas. These antennas have centered irises in the waveguide apertures and a dielectric wide angle impedance matching sheet in front of the antenna. A synthesis method, using simulated annealing and downhill simplex, is described next and different antenna designs, based on the analysis of a single element in an infinite array environment, are presented. Next, designs of subarrays are presented. Shown is the paramount importance of including the array environment in the design of a subarray. A microstrip patch waveguide exciter and subarray feeding network are discussed and the depth of the waveguide radiator is estimated. Chosen is a rectangular grid array with waveguides of 2.5 cm depth without irises and without dielectric sheet, grouped in linear 8 elements subarrays.

CGI: Java software for mapping and visualizing data from array-based comparative genomic hybridization and expression profiling.

Science.gov (United States)

Gu, Joyce Xiuweu-Xu; Wei, Michael Yang; Rao, Pulivarthi H; Lau, Ching C; Behl, Sanjiv; Man, Tsz-Kwong

2007-10-06

With the increasing application of various genomic technologies in biomedical research, there is a need to integrate these data to correlate candidate genes/regions that are identified by different genomic platforms. Although there are tools that can analyze data from individual platforms, essential software for integration of genomic data is still lacking. Here, we present a novel Java-based program called CGI (Cytogenetics-Genomics Integrator) that matches the BAC clones from array-based comparative genomic hybridization (aCGH) to genes from RNA expression profiling datasets. The matching is computed via a fast, backend MySQL database containing UCSC Genome Browser annotations. This program also provides an easy-to-use graphical user interface for visualizing and summarizing the correlation of DNA copy number changes and RNA expression patterns from a set of experiments. In addition, CGI uses a Java applet to display the copy number values of a specific BAC clone in aCGH experiments side by side with the expression levels of genes that are mapped back to that BAC clone from the microarray experiments. The CGI program is built on top of extensible, reusable graphic components specifically designed for biologists. It is cross-platform compatible and the source code is freely available under the General Public License.

CGI: Java Software for Mapping and Visualizing Data from Array-based Comparative Genomic Hybridization and Expression Profiling

Directory of Open Access Journals (Sweden)

Joyce Xiuweu-Xu Gu

2007-01-01

Full Text Available With the increasing application of various genomic technologies in biomedical research, there is a need to integrate these data to correlate candidate genes/regions that are identified by different genomic platforms. Although there are tools that can analyze data from individual platforms, essential software for integration of genomic data is still lacking. Here, we present a novel Java-based program called CGI (Cytogenetics-Genomics Integrator that matches the BAC clones from array-based comparative genomic hybridization (aCGH to genes from RNA expression profiling datasets. The matching is computed via a fast, backend MySQL database containing UCSC Genome Browser annotations. This program also provides an easy-to-use graphical user interface for visualizing and summarizing the correlation of DNA copy number changes and RNA expression patterns from a set of experiments. In addition, CGI uses a Java applet to display the copy number values of a specifi c BAC clone in aCGH experiments side by side with the expression levels of genes that are mapped back to that BAC clone from the microarray experiments. The CGI program is built on top of extensible, reusable graphic components specifically designed for biologists. It is cross-platform compatible and the source code is freely available under the General Public License.

An Empirical Study of Precise Interprocedural Array Analysis

Directory of Open Access Journals (Sweden)

Michael Hind

1994-01-01

Full Text Available In this article we examine the role played by the interprocedural analysis of array accesses in the automatic parallelization of Fortran programs. We use the PTRAN system to provide measurements of several benchmarks to compare different methods of representing interprocedurally accessed arrays. We examine issues concerning the effectiveness of automatic parallelization using these methods and the efficiency of a precise summarization method.

Gene Dosage Analysis in a Clinical Environment: Gene-Targeted Microarrays as the Platform-of-Choice

Directory of Open Access Journals (Sweden)

Donald R. Love

2013-03-01

Full Text Available The role of gene deletion and duplication in the aetiology of disease has become increasingly evident over the last decade. In addition to the classical deletion/duplication disorders diagnosed using molecular techniques, such as Duchenne Muscular Dystrophy and Charcot-Marie-Tooth Neuropathy Type 1A, the significance of partial or whole gene deletions in the pathogenesis of a large number single-gene disorders is becoming more apparent. A variety of dosage analysis methods are available to the diagnostic laboratory but the widespread application of many of these techniques is limited by the expense of the kits/reagents and restrictive targeting to a particular gene or portion of a gene. These limitations are particularly important in the context of a small diagnostic laboratory with modest sample throughput. We have developed a gene-targeted, custom-designed comparative genomic hybridisation (CGH array that allows twelve clinical samples to be interrogated simultaneously for exonic deletions/duplications within any gene (or panel of genes on the array. We report here on the use of the array in the analysis of a series of clinical samples processed by our laboratory over a twelve-month period. The array has proven itself to be robust, flexible and highly suited to the diagnostic environment.

Reliability analysis of the solar array based on Fault Tree Analysis

International Nuclear Information System (INIS)

Wu Jianing; Yan Shaoze

2011-01-01

The solar array is an important device used in the spacecraft, which influences the quality of in-orbit operation of the spacecraft and even the launches. This paper analyzes the reliability of the mechanical system and certifies the most vital subsystem of the solar array. The fault tree analysis (FTA) model is established according to the operating process of the mechanical system based on DFH-3 satellite; the logical expression of the top event is obtained by Boolean algebra and the reliability of the solar array is calculated. The conclusion shows that the hinges are the most vital links between the solar arrays. By analyzing the structure importance(SI) of the hinge's FTA model, some fatal causes, including faults of the seal, insufficient torque of the locking spring, temperature in space, and friction force, can be identified. Damage is the initial stage of the fault, so limiting damage is significant to prevent faults. Furthermore, recommendations for improving reliability associated with damage limitation are discussed, which can be used for the redesigning of the solar array and the reliability growth planning.

Reliability analysis of the solar array based on Fault Tree Analysis

Energy Technology Data Exchange (ETDEWEB)

Wu Jianing; Yan Shaoze, E-mail: yansz@mail.tsinghua.edu.cn [State Key Laboratory of Tribology, Department of Precision Instruments and Mechanology, Tsinghua University,Beijing 100084 (China)

2011-07-19

The solar array is an important device used in the spacecraft, which influences the quality of in-orbit operation of the spacecraft and even the launches. This paper analyzes the reliability of the mechanical system and certifies the most vital subsystem of the solar array. The fault tree analysis (FTA) model is established according to the operating process of the mechanical system based on DFH-3 satellite; the logical expression of the top event is obtained by Boolean algebra and the reliability of the solar array is calculated. The conclusion shows that the hinges are the most vital links between the solar arrays. By analyzing the structure importance(SI) of the hinge's FTA model, some fatal causes, including faults of the seal, insufficient torque of the locking spring, temperature in space, and friction force, can be identified. Damage is the initial stage of the fault, so limiting damage is significant to prevent faults. Furthermore, recommendations for improving reliability associated with damage limitation are discussed, which can be used for the redesigning of the solar array and the reliability growth planning.

Tiling array-CGH for the assessment of genomic similarities among synchronous unilateral and bilateral invasive breast cancer tumor pairs

Directory of Open Access Journals (Sweden)

Ringnér Markus

2008-07-01

Full Text Available Abstract Background Today, no objective criteria exist to differentiate between individual primary tumors and intra- or intermammary dissemination respectively, in patients diagnosed with two or more synchronous breast cancers. To elucidate whether these tumors most likely arise through clonal expansion, or whether they represent individual primary tumors is of tumor biological interest and may have clinical implications. In this respect, high resolution genomic profiling may provide a more reliable approach than conventional histopathological and tumor biological factors. Methods 32 K tiling microarray-based comparative genomic hybridization (aCGH was used to explore the genomic similarities among synchronous unilateral and bilateral invasive breast cancer tumor pairs, and was compared with histopathological and tumor biological parameters. Results Based on global copy number profiles and unsupervised hierarchical clustering, five of ten (p = 1.9 × 10-5 unilateral tumor pairs displayed similar genomic profiles within the pair, while only one of eight bilateral tumor pairs (p = 0.29 displayed pair-wise genomic similarities. DNA index, histological type and presence of vessel invasion correlated with the genomic analyses. Conclusion Synchronous unilateral tumor pairs are often genomically similar, while synchronous bilateral tumors most often represent individual primary tumors. However, two independent unilateral primary tumors can develop synchronously and contralateral tumor spread can occur. The presence of an intraductal component is not informative when establishing the independence of two tumors, while vessel invasion, the presence of which was found in clustering tumor pairs but not in tumor pairs that did not cluster together, supports the clustering outcome. Our data suggest that genomically similar unilateral tumor pairs may represent a more aggressive disease that requires the addition of more severe treatment modalities, and

Analysis of Camera Arrays Applicable to the Internet of Things.

Science.gov (United States)

Yang, Jiachen; Xu, Ru; Lv, Zhihan; Song, Houbing

2016-03-22

The Internet of Things is built based on various sensors and networks. Sensors for stereo capture are essential for acquiring information and have been applied in different fields. In this paper, we focus on the camera modeling and analysis, which is very important for stereo display and helps with viewing. We model two kinds of cameras, a parallel and a converged one, and analyze the difference between them in vertical and horizontal parallax. Even though different kinds of camera arrays are used in various applications and analyzed in the research work, there are few discussions on the comparison of them. Therefore, we make a detailed analysis about their performance over different shooting distances. From our analysis, we find that the threshold of shooting distance for converged cameras is 7 m. In addition, we design a camera array in our work that can be used as a parallel camera array, as well as a converged camera array and take some images and videos with it to identify the threshold.

Quantitative high-resolution genomic analysis of single cancer cells.

Directory of Open Access Journals (Sweden)

Juliane Hannemann

Full Text Available During cancer progression, specific genomic aberrations arise that can determine the scope of the disease and can be used as predictive or prognostic markers. The detection of specific gene amplifications or deletions in single blood-borne or disseminated tumour cells that may give rise to the development of metastases is of great clinical interest but technically challenging. In this study, we present a method for quantitative high-resolution genomic analysis of single cells. Cells were isolated under permanent microscopic control followed by high-fidelity whole genome amplification and subsequent analyses by fine tiling array-CGH and qPCR. The assay was applied to single breast cancer cells to analyze the chromosomal region centred by the therapeutical relevant EGFR gene. This method allows precise quantitative analysis of copy number variations in single cell diagnostics.

Physical analysis for designing nested-wire arrays on Z-pinch implosion

International Nuclear Information System (INIS)

Yang Zhenhua; Liu Quan; Ding Ning; Ning Cheng

2005-01-01

Z-pinch experiments have demonstrated that the X-ray power increases 40% with a nested-wire array compared with that with a single-layered wire array. The design of the nested-wire array on Z accelerator is studied through the implosion dynamics and the growth of RT instabilities. The analysis shows that the nested-wire array does not produce more total X-ray radiation energy than the single-layered wire array, but it obviously increases the X-ray power. The radius of the outer array of the nested-wire array could be determined based on the radius of the optimized single-layered. The masses of the outer and inner arrays could be determined by the implosion time of the nested-wire array, which is roughly the same as that of the single-layered wire array. Some suggestions are put forward which may be helpful in the nested-wire array design for Z-pinch experiments. (authors)

Parametric analysis of ATM solar array.

Science.gov (United States)

Singh, B. K.; Adkisson, W. B.

1973-01-01

The paper discusses the methods used for the calculation of ATM solar array performance characteristics and provides the parametric analysis of solar panels used in SKYLAB. To predict the solar array performance under conditions other than test conditions, a mathematical model has been developed. Four computer programs have been used to convert the solar simulator test data to the parametric curves. The first performs module summations, the second determines average solar cell characteristics which will cause a mathematical model to generate a curve matching the test data, the third is a polynomial fit program which determines the polynomial equations for the solar cell characteristics versus temperature, and the fourth program uses the polynomial coefficients generated by the polynomial curve fit program to generate the parametric data.

Genetisk udredning ved infantile spasmer

DEFF Research Database (Denmark)

Hansen, Lars Kjærsgaard; Ousager, Lilian Bomme; Møller, Rikke Steensbjerre

2012-01-01

Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH as the fi......Infantile spasms are a symptom of a severe epileptic encephalopathy. It is important to determine the aetiology for a child's disease. When a standard programme for evaluating the aetiology of the infantile spasms is unsuccessful genetic causes should be considered. We suggest array CGH...

Identification of a novel 15.5 kb SHOX deletion associated with ...

Indian Academy of Sciences (India)

ANGELOS ALEXANDROU

deletion, encompassing exons 3–6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of ... The proband, a female, second child of four children was born to ... at the age of 43 years, she had an occipitofrontal circumfer- ence (ofc) of ..... obox gene cause growth failure in idiopathic short stature and.

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing

OpenAIRE

Moncini, S.; Bedeschi, M.F.; Castronovo, P.; Crippa, M.; Calvello, M.; Garghentino, R.R.; Scuvera, G.; Finelli, P.; Venturin, M.

2013-01-01

In this report, we describe two adult brothers affected by moderate non-specific intellectual disability (ID). They showed minor facial anomalies, not clearly ascribable to any specific syndromic patterns, microcephaly, brachydactyly and broad toes. Both brothers presented seizures. Karyotype, subtelomeric and FMR1 analysis were normal in both cases. We performed array-CGH analysis that revealed no copy-number variations potentially associated with ID. Subsequent exome sequence analysis allow...

ATMAD: robust image analysis for Automatic Tissue MicroArray De-arraying.

Science.gov (United States)

Nguyen, Hoai Nam; Paveau, Vincent; Cauchois, Cyril; Kervrann, Charles

2018-04-19

Over the last two decades, an innovative technology called Tissue Microarray (TMA), which combines multi-tissue and DNA microarray concepts, has been widely used in the field of histology. It consists of a collection of several (up to 1000 or more) tissue samples that are assembled onto a single support - typically a glass slide - according to a design grid (array) layout, in order to allow multiplex analysis by treating numerous samples under identical and standardized conditions. However, during the TMA manufacturing process, the sample positions can be highly distorted from the design grid due to the imprecision when assembling tissue samples and the deformation of the embedding waxes. Consequently, these distortions may lead to severe errors of (histological) assay results when the sample identities are mismatched between the design and its manufactured output. The development of a robust method for de-arraying TMA, which localizes and matches TMA samples with their design grid, is therefore crucial to overcome the bottleneck of this prominent technology. In this paper, we propose an Automatic, fast and robust TMA De-arraying (ATMAD) approach dedicated to images acquired with brightfield and fluorescence microscopes (or scanners). First, tissue samples are localized in the large image by applying a locally adaptive thresholding on the isotropic wavelet transform of the input TMA image. To reduce false detections, a parametric shape model is considered for segmenting ellipse-shaped objects at each detected position. Segmented objects that do not meet the size and the roundness criteria are discarded from the list of tissue samples before being matched with the design grid. Sample matching is performed by estimating the TMA grid deformation under the thin-plate model. Finally, thanks to the estimated deformation, the true tissue samples that were preliminary rejected in the early image processing step are recognized by running a second segmentation step. We

Analysis of Chromothripsis by Combined FISH and Microarray Analysis.

Science.gov (United States)

MacKinnon, Ruth N

2018-01-01

Fluorescence in situ hybridization (FISH) to metaphase chromosomes, in conjunction with SNP array, array CGH, or whole genome sequencing, can help determine the organization of abnormal genomes after chromothripsis and other types of complex genome rearrangement. DNA microarrays can identify the changes in copy number, but they do not give information on the organization of the abnormal chromosomes, balanced rearrangements, or abnormalities of the centromeres and other regions comprised of highly repetitive DNA. Many of these details can be determined by the strategic use of metaphase FISH. FISH is a single-cell technique, so it can identify low-frequency chromosome abnormalities, and it can determine which chromosome abnormalities occur in the same or different clonal populations. These are important considerations in cancer. Metaphase chromosomes are intact, so information about abnormalities of the chromosome homologues is preserved. Here we describe strategies for working out the organization of highly rearranged genomes by combining SNP array data with various metaphase FISH methods. This approach can also be used to address some of the uncertainties arising from whole genome or mate-pair sequencing data.

[Comparative genomic hybridisation as a first option in genetic diagnosis: 1,000 cases and a cost-benefit analysis].

Science.gov (United States)

Castells-Sarret, Neus; Cueto-González, Anna M; Borregan, Mar; López-Grondona, Fermina; Miró, Rosa; Tizzano, Eduardo; Plaja, Alberto

2017-09-25

Conventional cytogenetics diagnoses 3-5% of patients with unexplained developmental delay/intellectual disability and/or multiple congenital anomalies. The Multiplex Ligation-dependent Probe Amplification increases diagnostic rates from between 2.4 to 5.8%. Currently the comparative genomic hybridisation array or aCGH is the highest performing diagnostic tool in patients with developmental delay/intellectual disability, congenital anomalies and autism spectrum disorders. Our aim is to evaluate the efficiency of the use of aCGH as first-line test in these and other indications (epilepsy, short stature). A total of 1000 patients referred due to one or more of the abovementioned disorders were analysed by aCGH. Pathogenic genomic imbalances were detected in 14% of the cases, with a variable distribution of diagnosis according to the phenotypes: 18.9% of patients with developmental delay/intellectual disability; 13.7% of multiple congenital anomalies, 9.76% of psychiatric pathologies, 7.02% of patients with epilepsy, and 13.3% of patients with short stature. Within the multiple congenital anomalies, central nervous system abnormalities and congenital heart diseases accounted for 14.9% and 10.6% of diagnoses, respectively. Among the psychiatric disorders, patients with autism spectrum disorders accounted for 8.9% of the diagnoses. Our results demonstrate the effectiveness and efficiency of the use of aCGH as the first line test in genetic diagnosis of patients suspected of genomic imbalances, supporting its inclusion within the National Health System. Copyright © 2017. Publicado por Elsevier España, S.L.U.

Sensitivity Analysis of WEC Array Layout Parameters Effect on the Power Performance

DEFF Research Database (Denmark)

Ruiz, Pau Mercadé; Ferri, Francesco; Kofoed, Jens Peter

2015-01-01

This study assesses the effect that the array layout choice has on the power performance. To this end, a sensitivity analysis is carried out with six array layout parameters, as the simulation inputs, the array power performance (q-factor), as the simulation output, and a simulation model special...

ExonMiner: Web service for analysis of GeneChip Exon array data

Directory of Open Access Journals (Sweden)

Imoto Seiya

2008-11-01

Full Text Available Abstract Background Some splicing isoform-specific transcriptional regulations are related to disease. Therefore, detection of disease specific splice variations is the first step for finding disease specific transcriptional regulations. Affymetrix Human Exon 1.0 ST Array can measure exon-level expression profiles that are suitable to find differentially expressed exons in genome-wide scale. However, exon array produces massive datasets that are more than we can handle and analyze on personal computer. Results We have developed ExonMiner that is the first all-in-one web service for analysis of exon array data to detect transcripts that have significantly different splicing patterns in two cells, e.g. normal and cancer cells. ExonMiner can perform the following analyses: (1 data normalization, (2 statistical analysis based on two-way ANOVA, (3 finding transcripts with significantly different splice patterns, (4 efficient visualization based on heatmaps and barplots, and (5 meta-analysis to detect exon level biomarkers. We implemented ExonMiner on a supercomputer system in order to perform genome-wide analysis for more than 300,000 transcripts in exon array data, which has the potential to reveal the aberrant splice variations in cancer cells as exon level biomarkers. Conclusion ExonMiner is well suited for analysis of exon array data and does not require any installation of software except for internet browsers. What all users need to do is to access the ExonMiner URL http://ae.hgc.jp/exonminer. Users can analyze full dataset of exon array data within hours by high-level statistical analysis with sound theoretical basis that finds aberrant splice variants as biomarkers.

Exome Array Analysis of Nuclear Lens Opacity.

Science.gov (United States)

Loomis, Stephanie J; Klein, Alison P; Lee, Kristine E; Chen, Fei; Bomotti, Samantha; Truitt, Barbara; Iyengar, Sudha K; Klein, Ronald; Klein, Barbara E K; Duggal, Priya

2018-06-01

Nuclear cataract is the most common subtype of age-related cataract, the leading cause of blindness worldwide. It results from advanced nuclear sclerosis, or opacity in the center of the optic lens, and is affected by both genetic and environmental risk factors, including smoking. We sought to understand the genetic factors associated with nuclear sclerosis through interrogation of rare and low frequency coding variants using exome array data. We analyzed Illumina Human Exome Array data for 1,488 participants of European ancestry in the Beaver Dam Eye Study who were without cataract surgery for association with nuclear sclerosis grade, controlling for age and sex. We performed single-variant regression analysis for 32,138 variants with minor allele frequency (MAF) ≥0.003. In addition, gene-based analysis of 11,844 genes containing at least two variants with MAF nuclear sclerosis, the possible association with the RNF149 gene highlights a potential candidate gene for future studies that aim to understand the genetic architecture of nuclear sclerosis.

Improvements in analysis techniques for segmented mirror arrays

Science.gov (United States)

Michels, Gregory J.; Genberg, Victor L.; Bisson, Gary R.

2016-08-01

The employment of actively controlled segmented mirror architectures has become increasingly common in the development of current astronomical telescopes. Optomechanical analysis of such hardware presents unique issues compared to that of monolithic mirror designs. The work presented here is a review of current capabilities and improvements in the methodology of the analysis of mechanically induced surface deformation of such systems. The recent improvements include capability to differentiate surface deformation at the array and segment level. This differentiation allowing surface deformation analysis at each individual segment level offers useful insight into the mechanical behavior of the segments that is unavailable by analysis solely at the parent array level. In addition, capability to characterize the full displacement vector deformation of collections of points allows analysis of mechanical disturbance predictions of assembly interfaces relative to other assembly interfaces. This capability, called racking analysis, allows engineers to develop designs for segment-to-segment phasing performance in assembly integration, 0g release, and thermal stability of operation. The performance predicted by racking has the advantage of being comparable to the measurements used in assembly of hardware. Approaches to all of the above issues are presented and demonstrated by example with SigFit, a commercially available tool integrating mechanical analysis with optical analysis.

Obtaining a genetic diagnosis in a child with disability: impact on parental quality of life.

Science.gov (United States)

Lingen, M; Albers, L; Borchers, M; Haass, S; Gärtner, J; Schröder, S; Goldbeck, L; von Kries, R; Brockmann, K; Zirn, B

2016-02-01

Recent progress in genetic testing has facilitated obtaining an etiologic diagnosis in children with developmental delay/intellectual disability (DD/ID) or multiple congenital anomalies (MCA) or both. Little is known about the benefits of diagnostic elucidation for affected families. We studied the impact of a genetic diagnosis on parental quality of life (QoL) using a validated semiquantitative questionnaire in families with a disabled child investigated by array-based comparative genomic hybridization (aCGH). We received completed questionnaires from 95 mothers and 76 fathers of 99 families. We used multivariate analysis for adjustment of potential confounders. Taken all 99 families together, maternal QoL score (percentile rank scale 51.05) was significantly lower than fathers' QoL (61.83, p = 0.01). Maternal QoL score was 20.17 [95% CI (5.49; 34.82)] percentile rank scales higher in mothers of children with diagnostic (n = 34) aCGH as opposed to mothers of children with inconclusive (n = 65) aCGH (Hedges' g = 0.71). Comparison of these QoL scores with retrospectively recalled QoL before aCGH revealed an increase of maternal QoL after diagnostic clarification. Our results indicate a benefit for maternal QoL if a genetic test, here aCGH, succeeds to clarify the etiologic diagnosis in a disabled child. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

A 1.37-Mb 12p11.22-p11.21 deletion coincident with a 367-kb 22q11.2 duplication detected by array comparative genomic hybridization in an adolescent girl with autism and difficulty in self-care of menstruation.

Science.gov (United States)

Chen, Chih-Ping; Lin, Shuan-Pei; Chern, Schu-Rern; Wu, Peih-Shan; Su, Jun-Wei; Lee, Chen-Chi; Wang, Wayseen

2014-03-01

To present an array comparative genomic hybridization (aCGH) characterization of a 12p11.22-p11.21 microdeletion and 22q11.2 microduplication in an adolescent girl with autism, mental retardation, facial dysmorphism, microcephaly, behavior problems, and an apparently balanced reciprocal translocation of t(8;12)(q24.3;p11.2). A 13-year-old girl was referred to the hospital because of autism, mental retardation, and difficulty in the self-care of her menstruation. Cytogenetic analysis revealed an apparently balanced reciprocal translocation and a karyotype of 46,XX,t(8;12) (q24.3;p11.2)dn. The girl manifested microcephaly, hypertelorism, flat facial profile, prominent forehead, thick scalp hair, upslanting palpebral fissures, broad nasal bridge, bulbous nose, right simian crease, bilateral clinodactyly of the fifth fingers, bilateral pes cavus, learning difficulties, mental retardation, emotional instability, cognitive impairment, behavior problems, jumping-like gaits, and autistic spectrum disorder. aCGH was performed to evaluate genomic imbalance in this patient. aCGH analysis revealed a 1.37-Mb 12p11.22-p11.21 microdeletion or arr [hg 19] 12p11.22-p11.21 (30,645,008-32,014,774)×1 and a 367-kb 22q11.21 microduplication or arr [hg 19] 22q11.21 (18,657,470-19,024,306)×3. The 1.37-Mb 12p11.22-p11.21 microdeletion encompassed 26 genes including IPO8, CAPRIN2, and DDX11, and the 367-kb 22q11.21 microduplication encompassed 20 genes including USP18, DGCR6, PRODH, and DGCR2. An apparently balanced translocation may be in fact affected by concurrent deletion and duplication in two different chromosomal regions. Our presentation provides information on diagnostic phenotype of 12p11.22-p11.21 microdeletion and 22q11.2 microduplication. Copyright © 2014. Published by Elsevier B.V.

Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in patients undergoing in vitro fertilization with poor prognosis

Science.gov (United States)

Majumdar, Gaurav; Majumdar, Abha; Lall, Meena; Verma, Ishwar C.; Upadhyaya, Kailash C.

2016-01-01

CONTEXT: A majority of human embryos produced in vitro are aneuploid, especially in couples undergoing in vitro fertilization (IVF) with poor prognosis. Preimplantation genetic screening (PGS) for all 24 chromosomes has the potential to select the most euploid embryos for transfer in such cases. AIM: To study the efficacy of PGS for all 24 chromosomes by microarray comparative genomic hybridization (array CGH) in Indian couples undergoing IVF cycles with poor prognosis. SETTINGS AND DESIGN: A retrospective, case–control study was undertaken in an institution-based tertiary care IVF center to compare the clinical outcomes of twenty patients, who underwent 21 PGS cycles with poor prognosis, with 128 non-PGS patients in the control group, with the same inclusion criterion as for the PGS group. MATERIALS AND METHODS: Single cells were obtained by laser-assisted embryo biopsy from day 3 embryos and subsequently analyzed by array CGH for all 24 chromosomes. Once the array CGH results were available on the morning of day 5, only chromosomally normal embryos that had progressed to blastocyst stage were transferred. RESULTS: The implantation rate and clinical pregnancy rate (PR) per transfer were found to be significantly higher in the PGS group than in the control group (63.2% vs. 26.2%, P = 0.001 and 73.3% vs. 36.7%, P = 0.006, respectively), while the multiple PRs sharply declined from 31.9% to 9.1% in the PGS group. CONCLUSIONS: In this pilot study, we have shown that PGS by array CGH can improve the clinical outcome in patients undergoing IVF with poor prognosis. PMID:27382234

FISH Oracle: a web server for flexible visualization of DNA copy number data in a genomic context.

Science.gov (United States)

Mader, Malte; Simon, Ronald; Steinbiss, Sascha; Kurtz, Stefan

2011-07-28

The rapidly growing amount of array CGH data requires improved visualization software supporting the process of identifying candidate cancer genes. Optimally, such software should work across multiple microarray platforms, should be able to cope with data from different sources and should be easy to operate. We have developed a web-based software FISH Oracle to visualize data from multiple array CGH experiments in a genomic context. Its fast visualization engine and advanced web and database technology supports highly interactive use. FISH Oracle comes with a convenient data import mechanism, powerful search options for genomic elements (e.g. gene names or karyobands), quick navigation and zooming into interesting regions, and mechanisms to export the visualization into different high quality formats. These features make the software especially suitable for the needs of life scientists. FISH Oracle offers a fast and easy to use visualization tool for array CGH and SNP array data. It allows for the identification of genomic regions representing minimal common changes based on data from one or more experiments. FISH Oracle will be instrumental to identify candidate onco and tumor suppressor genes based on the frequency and genomic position of DNA copy number changes. The FISH Oracle application and an installed demo web server are available at http://www.zbh.uni-hamburg.de/fishoracle.

Data-flow Analysis of Programs with Associative Arrays

Directory of Open Access Journals (Sweden)

David Hauzar

2014-05-01

Full Text Available Dynamic programming languages, such as PHP, JavaScript, and Python, provide built-in data structures including associative arrays and objects with similar semantics—object properties can be created at run-time and accessed via arbitrary expressions. While a high level of security and safety of applications written in these languages can be of a particular importance (consider a web application storing sensitive data and providing its functionality worldwide, dynamic data structures pose significant challenges for data-flow analysis making traditional static verification methods both unsound and imprecise. In this paper, we propose a sound and precise approach for value and points-to analysis of programs with associative arrays-like data structures, upon which data-flow analyses can be built. We implemented our approach in a web-application domain—in an analyzer of PHP code.

The On-Site Analysis of the Cherenkov Telescope Array

CERN Document Server

Bulgarelli, Andrea; Zoli, Andrea; Aboudan, Alessio; Rodríguez-Vázquez, Juan José; De Cesare, Giovanni; De Rosa, Adriano; Maier, Gernot; Lyard, Etienne; Bastieri, Denis; Lombardi, Saverio; Tosti, Gino; Bergamaschi, Sonia; Beneventano, Domenico; Lamanna, Giovanni; Jacquemier, Jean; Kosack, Karl; Antonelli, Lucio Angelo; Boisson, Catherine; Borkowski, Jerzy; Buson, Sara; Carosi, Alessandro; Conforti, Vito; Colomé, Pep; Reyes, Raquel de los; Dumm, Jon; Evans, Phil; Fortson, Lucy; Fuessling, Matthias; Gotz, Diego; Graciani, Ricardo; Gianotti, Fulvio; Grandi, Paola; Hinton, Jim; Humensky, Brian; Inoue, Susumu; Knödlseder, Jürgen; Flour, Thierry Le; Lindemann, Rico; Malaguti, Giuseppe; Markoff, Sera; Marisaldi, Martino; Neyroud, Nadine; Nicastro, Luciano; Ohm, Stefan; Osborne, Julian; Oya, Igor; Rodriguez, Jerome; Rosen, Simon; Ribo, Marc; Tacchini, Alessandro; Schüssler, Fabian; Stolarczyk, Thierry; Torresi, Eleonora; Testa, Vincenzo; Wegner, Peter

2015-01-01

The Cherenkov Telescope Array (CTA) observatory will be one of the largest ground-based very high-energy gamma-ray observatories. The On-Site Analysis will be the first CTA scientific analysis of data acquired from the array of telescopes, in both northern and southern sites. The On-Site Analysis will have two pipelines: the Level-A pipeline (also known as Real-Time Analysis, RTA) and the level-B one. The RTA performs data quality monitoring and must be able to issue automated alerts on variable and transient astrophysical sources within 30 seconds from the last acquired Cherenkov event that contributes to the alert, with a sensitivity not worse than the one achieved by the final pipeline by more than a factor of 3. The Level-B Analysis has a better sensitivity (not be worse than the final one by a factor of 2) and the results should be available within 10 hours from the acquisition of the data: for this reason this analysis could be performed at the end of an observation or next morning. The latency (in part...

Calculation method of CGH for Binocular Eyepiece-Type Electro Holography

International Nuclear Information System (INIS)

Yang, Chanyoung; Yoneyama, Takuo; Sakamoto, Yuji; Okuyama, Fumio

2013-01-01

We had researched about eyepiece-type electro holography to display 3-D images of larger objects at wider angle. We had enlarged visual field considering depth of object with Fourier optical system using two lenses. In this paper, we extend our system for binocular. In the binocular system, we use two different holograms for each eye. The 3-D image for left eye should be observed like the real object observed using left eye and the same for right eye. So, we propose a method of calculation of computer-generated hologram (CGH) transforming the coordinate system of the model data to make two holograms for binocular eyepiece-type electro holography. The coordinate system of original model data is called the world coordinate system. The left and the right coordinate system are transformed from the world coordinate system. We also propose the method for correcting the installation error that occurs when placing the electronic and optical devices. The installation error is calculated and the model data is corrected using the distance between measured position and setup position of the reconstructed image Optical reconstruction experiments were carried out to verify the proposed method.

Assessment of copy number variations in 120 patients with Poland syndrome.

Science.gov (United States)

Vaccari, Carlotta Maria; Tassano, Elisa; Torre, Michele; Gimelli, Stefania; Divizia, Maria Teresa; Romanini, Maria Victoria; Bossi, Simone; Musante, Ilaria; Valle, Maura; Senes, Filippo; Catena, Nunzio; Bedeschi, Maria Francesca; Baban, Anwar; Calevo, Maria Grazia; Acquaviva, Massimo; Lerone, Margherita; Ravazzolo, Roberto; Puliti, Aldamaria

2016-11-25

Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown. To investigate the prevalence of chromosomal imbalances in PS, standard cytogenetic and array-CGH analyses were performed in 120 PS patients. Following the application of stringent filter criteria, 14 rare copy number variations (CNVs) were identified in 14 PS patients in different regions outside known common copy number variations: seven genomic duplications and seven genomic deletions, enclosing the two previously reported PS associated chromosomal deletions. These CNVs ranged from 0.04 to 4.71 Mb in size. Bioinformatic analysis of array-CGH data indicated gene enrichment in pathways involved in cell-cell adhesion, DNA binding and apoptosis processes. The analysis also provided a number of candidate genes possibly causing the developmental defects observed in PS patients, among others REV3L, a gene coding for an error-prone DNA polymerase previously associated with Möbius Syndrome with variable phenotypes including pectoralis muscle agenesis. A number of rare CNVs were identified in PS patients, and these involve genes that represent candidates for further evaluation. Rare inherited CNVs may contribute to, or represent risk factors of PS

An aCGH classifier derived from BRCA1-mutated breast cancer and benefit of high-dose platinum-based chemotherapy in HER2-negative breast cancer patients

NARCIS (Netherlands)

Vollebergh, M. A.; Lips, E. H.; Nederlof, P. M.; Wessels, L. F. A.; Schmidt, M. K.; van Beers, E. H.; Cornelissen, S.; Holtkamp, M.; Froklage, F. E.; de Vries, E. G. E.; Schrama, J. G.; Wesseling, J.; van de Vijver, M. J.; van Tinteren, H.; de Bruin, Michiel; Hauptmann, M.; Rodenhuis, S.; Linn, S. C.

2011-01-01

Breast cancer cells deficient for BRCA1 are hypersensitive to agents inducing DNA double-strand breaks (DSB), such as bifunctional alkylators and platinum agents. Earlier, we had developed a comparative genomic hybridisation (CGH) classifier based on BRCA1-mutated breast cancers. We hypothesised

Discrimination of p53 immunohistochemistry-positive tumors by its staining pattern in gastric cancer

International Nuclear Information System (INIS)

Ando, Koji; Oki, Eiji; Saeki, Hiroshi; Yan, Zhao; Tsuda, Yasuo; Hidaka, Gen; Kasagi, Yuta; Otsu, Hajime; Kawano, Hiroyuki; Kitao, Hiroyuki; Morita, Masaru; Maehara, Yoshihiko

2015-01-01

Immunohistochemistry staining of p53 is a cheap and simple method to detect aberrant function of p53. However, there are some discrepancies between the result of immunohistochemistry staining and mutation analysis. This study attempted to find a new definition of p53 staining by its staining pattern. Immunohistochemistry staining of p53 and TP53 gene mutation analysis were performed in 148 gastric cancer patients. Also SNP-CGH array analysis was conducted to four cases. Positive staining of p53 was observed in 88 (59.5%) tumors. Tumors with positive p53 staining showed malignant features compared to negative tumors. Mutation of TP53 gene was observed in 29 (19.6%) tumors with higher age and differentiated type. In positive p53 tumors, two types could be distinguished; aberrant type and scattered type. With comparison to TP53 gene mutation analysis, all the scattered type had wild-type TP53 gene (P = 0.0003). SNP-CGH array showed that scattered-type tumors had no change in the structure of chromosome 17. P53-scattered-type staining tumors may reflect a functionally active nonmutated TP53 gene. In interpretation of p53 immunohistochemistry staining, distinguishing p53-positive tumors by their staining pattern may be important in gastric cancer

Use of Array Comparative Genomic Hybridization for the Diagnosis of DiGeorge Syndrome in Saudi Arabian Population.

Science.gov (United States)

Bahamat, Abeer A; Assidi, Mourad; Lary, Sahira A; Almughamsi, Muna M; Peer Zada, Abdul A; Chaudhary, Adeel; Abuzenadah, Adel; Abu-Elmagd, Muhammad; Al-Qahtani, Mohammed

2018-01-01

DiGeorge syndrome (DGS) is a genetic disorder known as a clinically variable syndrome with over 180 associated phenotypic features. It is caused by a common human deletion in the 22q11.2 chromosomal region and currently is affecting approximately 1 in 4,000 individuals. Despite the prevalence of inherited diseases mainly due to consanguineous marriages, the current diagnosis of DGS in Saudi Arabia is mainly based on conventional high-resolution chromosome banding (karyotyping) and FISH techniques. However, advanced genome-wide studies for detecting microdeletions or duplications across the whole genome are needed. The aim of this study is to implement and use aCGH technology in clinical diagnosis of the 22q11.2 deletion in Saudi Arabian DGS patients and to confirm its effectiveness compared to conventional FISH and chromosome banding techniques. Thirty suspected DGS patients were assessed for chromosome 22q11.2 deletion using high-resolution G-banding, FISH, and aCGH. The aCGH results were compared with those obtained by the other 2 cytogenetic techniques. G-banding detected the 22q11.2 deletion in only 1 patient in the cohort. Moreover, it detected additional chromosomal aberrations in 3 other patients. Using FISH, allowed for detection of the 22q11.2 deletion in 2 out of 30 patients. Interestingly, the use of aCGH technique showed deletions in the chromosome 22q11.2 region in 8 patients, indicating a 4-fold increase in diagnostic detection capacity compared to FISH. Our results show the effectiveness of aCGH to overcome the limitations of FISH and G-banding in terms of diagnostic yield and allow whole genome screening and detection of a larger number of deletions and/or duplications in Saudi Arabian DGS patients. Except for balanced translocations and inversions, our data demonstrate the suitability of aCGH in the diagnostics of submicroscopic deletion syndromes such as DGS and most chromosomal aberrations or complex abnormalities scattered throughout the human

Comparative genomic hybridization analysis of benign and invasive male breast neoplasms

DEFF Research Database (Denmark)

Ojopi, Elida Paula Benquique; Cavalli, Luciane Regina; Cavalieri, Luciane Mara Bogline

2002-01-01

Comparative genomic hybridization (CGH) analysis was performed for the identification of chromosomal imbalances in two benign gynecomastias and one malignant breast carcinoma derived from patients with male breast disease and compared with cytogenetic analysis in two of the three cases. CGH...... analysis demonstrated overrepresentation of 8q in all three cases. One case of gynecomastia presented gain of 1p34.3 through pter, 11p14 through q12, and 17p11.2 through qter, and loss of 1q41 through qter and 4q33 through qter. The other gynecomastia presented del(1)(q41) as detected by both cytogenetic...

Analysis and Simulation of Multi-target Echo Signals from a Phased Array Radar

OpenAIRE

Jia Zhen; Zhou Rui

2017-01-01

The construction of digital radar simulation systems has been a research hotspot of the radar field. This paper focuses on theoretical analysis and simulation of multi-target echo signals produced in a phased array radar system, and constructs an array antenna element and a signal generation environment. The antenna element is able to simulate planar arrays and optimizes these arrays by adding window functions. And the signal environment can model and simulate radar transmission signals, rada...

RoboSCell: An automated single cell arraying and analysis instrument

KAUST Repository

Sakaki, Kelly

2009-09-09

Single cell research has the potential to revolutionize experimental methods in biomedical sciences and contribute to clinical practices. Recent studies suggest analysis of single cells reveals novel features of intracellular processes, cell-to-cell interactions and cell structure. The methods of single cell analysis require mechanical resolution and accuracy that is not possible using conventional techniques. Robotic instruments and novel microdevices can achieve higher throughput and repeatability; however, the development of such instrumentation is a formidable task. A void exists in the state-of-the-art for automated analysis of single cells. With the increase in interest in single cell analyses in stem cell and cancer research the ability to facilitate higher throughput and repeatable procedures is necessary. In this paper, a high-throughput, single cell microarray-based robotic instrument, called the RoboSCell, is described. The proposed instrument employs a partially transparent single cell microarray (SCM) integrated with a robotic biomanipulator for in vitro analyses of live single cells trapped at the array sites. Cells, labeled with immunomagnetic particles, are captured at the array sites by channeling magnetic fields through encapsulated permalloy channels in the SCM. The RoboSCell is capable of systematically scanning the captured cells temporarily immobilized at the array sites and using optical methods to repeatedly measure extracellular and intracellular characteristics over time. The instrument\\'s capabilities are demonstrated by arraying human T lymphocytes and measuring the uptake dynamics of calcein acetoxymethylester-all in a fully automated fashion. © 2009 Springer Science+Business Media, LLC.

Analysis of the modal behavior of an antiguide diode laser array with Talbot filter

NARCIS (Netherlands)

van Eijk, P.D.; van Eijk, Pieter D.; Reglat, Muriel; Vassilief, Georges; Krijnen, Gijsbertus J.M.; Driessen, A.; Mouthaan, A.J.

An analysis of the filtering of the array modes in a resonant optical waveguide (ROW) array of antiguides by a diffractive spatial filter (a Talbot filter) is presented. A dispersion relation is derived for the array modes, allowing the calculation of the field distribution. The filtering is

Live birth from a patient with a three-way balanced translocation t(5 ...

African Journals Online (AJOL)

Objectives: Array comparative genomic hybridisation (array-CGH) was used to screen embryos for chromosome imbalances. Methods: Embryo biopsy, preimplantation genetic diagnosis using a 24sure+ kit to detect translocations in embryos. Results: Of 10 embryos tested, 2 were found to have an unbalanced translocation, ...

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

Science.gov (United States)

Rossi, Elena; Radi, Orietta; De Lorenzi, Lisa; Vetro, Annalisa; Groppetti, Debora; Bigliardi, Enrico; Luvoni, Gaia Cecilia; Rota, Ada; Camerino, Giovanna; Zuffardi, Orsetta; Parma, Pietro

2014-01-01

Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

Directory of Open Access Journals (Sweden)

Elena Rossi

Full Text Available Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

Science.gov (United States)

Rouleau, Etienne; Lefol, Cédrick; Bourdon, Violaine; Coulet, Florence; Noguchi, Tetsuro; Soubrier, Florent; Bièche, Ivan; Olschwang, Sylviane; Sobol, Hagay; Lidereau, Rosette

2009-06-01

Several techniques have been developed to screen mismatch repair (MMR) genes for deleterious mutations. Until now, two different techniques were required to screen for both point mutations and large rearrangements. For the first time, we propose a new approach, called "quantitative PCR (qPCR) high-resolution melting (HRM) curve analysis (qPCR-HRM)," which combines qPCR and HRM to obtain a rapid and cost-effective method suitable for testing a large series of samples. We designed PCR amplicons to scan the MLH1 gene using qPCR HRM. Seventy-six patients were fully scanned in replicate, including 14 wild-type patients and 62 patients with known mutations (57 point mutations and five rearrangements). To validate the detected mutations, we used sequencing and/or hybridization on a dedicated MLH1 array-comparative genomic hybridization (array-CGH). All point mutations and rearrangements detected by denaturing high-performance liquid chromatography (dHPLC)+multiplex ligation-dependent probe amplification (MLPA) were successfully detected by qPCR HRM. Three large rearrangements were characterized with the dedicated MLH1 array-CGH. One variant was detected with qPCR HRM in a wild-type patient and was located within the reverse primer. One variant was not detected with qPCR HRM or with dHPLC due to its proximity to a T-stretch. With qPCR HRM, prescreening for point mutations and large rearrangements are performed in one tube and in one step with a single machine, without the need for any automated sequencer in the prescreening process. In replicate, its reagent cost, sensitivity, and specificity are comparable to those of dHPLC+MLPA techniques. However, qPCR HRM outperformed the other techniques in terms of its rapidity and amount of data provided.

Read margin analysis of crossbar arrays using the cell-variability-aware simulation method

Science.gov (United States)

Sun, Wookyung; Choi, Sujin; Shin, Hyungsoon

2018-02-01

This paper proposes a new concept of read margin analysis of crossbar arrays using cell-variability-aware simulation. The size of the crossbar array should be considered to predict the read margin characteristic of the crossbar array because the read margin depends on the number of word lines and bit lines. However, an excessively high-CPU time is required to simulate large arrays using a commercial circuit simulator. A variability-aware MATLAB simulator that considers independent variability sources is developed to analyze the characteristics of the read margin according to the array size. The developed MATLAB simulator provides an effective method for reducing the simulation time while maintaining the accuracy of the read margin estimation in the crossbar array. The simulation is also highly efficient in analyzing the characteristic of the crossbar memory array considering the statistical variations in the cell characteristics.

Solar array deployment analysis considering path-dependent behavior of a tape spring hinge

Energy Technology Data Exchange (ETDEWEB)

Kim, Kyung Won; Park, Young Jin [KAIST, Daejeon (Korea, Republic of)

2015-05-15

Solar array deployment analysis is conducted considering the path-dependent nonlinear behavior of tape spring hinge. Such hinges offer many advantages over rigid hinges; they are self-deployable, self-locking, lightweight, and simple. However, they show strongly nonlinear behavior with respect to rotation angle, making deployment analysis difficult. To accurately consider the characteristics of tape spring hinges for deployment analysis, a path-dependent path identification (PI) method for tracing the previous path of the moment is introduced. To analyze the deployment motion, the governing equation for solar array deployment is derived within the framework of Kane's dynamic equation for three deployable solar panels. The numerical solution is compared with the Recurdyn's multi-body dynamics analysis solution using experimentally measured moment-rotation profiles. Solar array deployment analysis is conducted by considering and not considering the path-dependent PI method. This simulation example shows that the proposed path-dependent PI method is very effective for accurately predicting the deployment motion.

SNP Arrays

Directory of Open Access Journals (Sweden)

Jari Louhelainen

2016-10-01

Full Text Available The papers published in this Special Issue “SNP arrays” (Single Nucleotide Polymorphism Arrays focus on several perspectives associated with arrays of this type. The range of papers vary from a case report to reviews, thereby targeting wider audiences working in this field. The research focus of SNP arrays is often human cancers but this Issue expands that focus to include areas such as rare conditions, animal breeding and bioinformatics tools. Given the limited scope, the spectrum of papers is nothing short of remarkable and even from a technical point of view these papers will contribute to the field at a general level. Three of the papers published in this Special Issue focus on the use of various SNP array approaches in the analysis of three different cancer types. Two of the papers concentrate on two very different rare conditions, applying the SNP arrays slightly differently. Finally, two other papers evaluate the use of the SNP arrays in the context of genetic analysis of livestock. The findings reported in these papers help to close gaps in the current literature and also to give guidelines for future applications of SNP arrays.

Array analysis of regional Pn and Pg wavefields from the Nevada Test Site

International Nuclear Information System (INIS)

Leonard, M.A.

1991-06-01

Small-aperture high-frequency seismic arrays with dimensions of a few kilometers or less, can improve our ability to seismically monitor compliance with a low-yield Threshold Test Ban Treaty. This work studies the characteristics and effectiveness of array processing of the regional Pn and Pg wavefields generated by underground nuclear explosions at the Nevada Test Site. Waveform data from the explosion HARDIN (m b = 5.5) is recorded at a temporary 12-element, 3-component, 1.5 km-aperture array sited in an area of northern Nevada. The explosions VILLE (m b = 4.4) and SALUT (m b = 5.5) are recorded at two arrays sited in the Mojave desert, one a 96-element vertical-component 7 km-aperture array and the other a 155-element vertical-component 4 km-aperture array. Among the mean spectra for the m b = 5.5 events there are significant differences in low-frequency spectral amplitudes between array sites. The spectra become nearly identical beyond about 6 Hz. Spectral ratios are used to examine seismic source properties and the partitioning of energy between Pn and Pg. Frequency-wavenumber analysis at the 12-element array is used to obtain estimates of signal gain, phase velocity, and source azimuth. This analysis reveals frequency-dependent biases in velocity and azimuth of the coherent Pn and Pg arrivals. Signal correlation, the principal factor governing array performance, is examined in terms of spatial coherence estimates. The coherence is found to vary between the three sites. In all cases the coherence of Pn is greater than that for Pg. 81 refs., 92 figs., 5 tabs

Array analysis of regional Pn and Pg wavefields from the Nevada Test Site

Energy Technology Data Exchange (ETDEWEB)

Leonard, M.A. (California Univ., Berkeley, CA (United States). Dept. of Geology and Geophysics Lawrence Berkeley Lab., CA (United States))

1991-06-01

Small-aperture high-frequency seismic arrays with dimensions of a few kilometers or less, can improve our ability to seismically monitor compliance with a low-yield Threshold Test Ban Treaty. This work studies the characteristics and effectiveness of array processing of the regional Pn and Pg wavefields generated by underground nuclear explosions at the Nevada Test Site. Waveform data from the explosion HARDIN (m{sub b} = 5.5) is recorded at a temporary 12-element, 3-component, 1.5 km-aperture array sited in an area of northern Nevada. The explosions VILLE (m{sub b} = 4.4) and SALUT (m{sub b} = 5.5) are recorded at two arrays sited in the Mojave desert, one a 96-element vertical-component 7 km-aperture array and the other a 155-element vertical-component 4 km-aperture array. Among the mean spectra for the m{sub b} = 5.5 events there are significant differences in low-frequency spectral amplitudes between array sites. The spectra become nearly identical beyond about 6 Hz. Spectral ratios are used to examine seismic source properties and the partitioning of energy between Pn and Pg. Frequency-wavenumber analysis at the 12-element array is used to obtain estimates of signal gain, phase velocity, and source azimuth. This analysis reveals frequency-dependent biases in velocity and azimuth of the coherent Pn and Pg arrivals. Signal correlation, the principal factor governing array performance, is examined in terms of spatial coherence estimates. The coherence is found to vary between the three sites. In all cases the coherence of Pn is greater than that for Pg. 81 refs., 92 figs., 5 tabs.

Epithelial Plasticity in Castration-Resistant Prostate Cancer: Biology of the Lethal Phenotype

Science.gov (United States)

2014-07-01

34·- ... _ ···-·--.. ~ .... _.... ..... , - .... -.==-:; ...... 0(1"𔃻""!:* Figure 6. Analysis of the genomic locus of MYCN ( chromosome 2) by arrayCGH in...uncoupled from mutations and chromosomal anomalies. This metastatic dis- semination leads to pathological fractures, anemia, bone mar- row failure...emergence of active bone lesions over time in the same regions, indicating persistent viable tumor despite the disappearance on scans. We hypothesize

“Distributed hybrid” MH–CGH2 system for hydrogen storage and its supply to LT PEMFC power modules

Energy Technology Data Exchange (ETDEWEB)

Lototskyy, M., E-mail: mlototskyy@uwc.ac.za [HySA Systems Competence Centre, South African Institute for Advanced Materials Chemistry, Faculty of Natural Sciences, University of the Western Cape, Private Bag X17, Bellville 7535 (South Africa); Tolj, I.; Davids, M.W.; Bujlo, P. [HySA Systems Competence Centre, South African Institute for Advanced Materials Chemistry, Faculty of Natural Sciences, University of the Western Cape, Private Bag X17, Bellville 7535 (South Africa); Smith, F. [Impala Platinum Ltd, Springs (South Africa); Pollet, B.G. [HySA Systems Competence Centre, South African Institute for Advanced Materials Chemistry, Faculty of Natural Sciences, University of the Western Cape, Private Bag X17, Bellville 7535 (South Africa)

2015-10-05

Highlights: • Prototype hydrogen storage and supply system for LTPEMFC applications was developed. • Combination of MH and CGH2 tanks with common gas manifold was used. • Thermal coupling of fuel cell stack and MH tank was applied. • The system uses AB2-type MH; H2 equilibrium pressure ∼10 bar at room temperature. • Shorter H2 charge time and stable H2 supply at a fluctuating load were observed. - Abstract: This paper describes the layout and presents the results of the testing of a novel prototype “distributed hybrid” hydrogen storage and supply system that has the potential to be used for Low Temperature Proton Exchange Membrane Fuel Cell (LT-PEMFC) applications. The system consists of individual Metal Hydride (MH) and Compressed Gas (CGH2) tanks with common gas manifold, and a thermal management system where heat exchanger of the liquid heated-cooled MH tank is integrated with the cooling system of the LT-PEMFC BoP. The MH tank is filled with a medium-stability AB{sub 2}-type MH material (H{sub 2} equilibrium pressure of about 10 bar at room temperature). This innovative solution allows for (i) an increase in hydrogen storage capacity of the whole gas storage system and the reduction of H{sub 2} charge pressure; (ii) shorter charging times in the refuelling mode and smoother peaks of H{sub 2} consumption during its supply to the fuel cell stack; (iii) the use of standard parts with simple layout and lower costs; and (iv) adding flexibility in the layout and placement of the components of the hydrogen storage and supply system.

“Distributed hybrid” MH–CGH2 system for hydrogen storage and its supply to LT PEMFC power modules

International Nuclear Information System (INIS)

Lototskyy, M.; Tolj, I.; Davids, M.W.; Bujlo, P.; Smith, F.; Pollet, B.G.

2015-01-01

Highlights: • Prototype hydrogen storage and supply system for LTPEMFC applications was developed. • Combination of MH and CGH2 tanks with common gas manifold was used. • Thermal coupling of fuel cell stack and MH tank was applied. • The system uses AB2-type MH; H2 equilibrium pressure ∼10 bar at room temperature. • Shorter H2 charge time and stable H2 supply at a fluctuating load were observed. - Abstract: This paper describes the layout and presents the results of the testing of a novel prototype “distributed hybrid” hydrogen storage and supply system that has the potential to be used for Low Temperature Proton Exchange Membrane Fuel Cell (LT-PEMFC) applications. The system consists of individual Metal Hydride (MH) and Compressed Gas (CGH2) tanks with common gas manifold, and a thermal management system where heat exchanger of the liquid heated-cooled MH tank is integrated with the cooling system of the LT-PEMFC BoP. The MH tank is filled with a medium-stability AB 2 -type MH material (H 2 equilibrium pressure of about 10 bar at room temperature). This innovative solution allows for (i) an increase in hydrogen storage capacity of the whole gas storage system and the reduction of H 2 charge pressure; (ii) shorter charging times in the refuelling mode and smoother peaks of H 2 consumption during its supply to the fuel cell stack; (iii) the use of standard parts with simple layout and lower costs; and (iv) adding flexibility in the layout and placement of the components of the hydrogen storage and supply system

Theory and design of compact hybrid microphone arrays on two-dimensional planes for three-dimensional soundfield analysis.

Science.gov (United States)

Chen, Hanchi; Abhayapala, Thushara D; Zhang, Wen

2015-11-01

Soundfield analysis based on spherical harmonic decomposition has been widely used in various applications; however, a drawback is the three-dimensional geometry of the microphone arrays. In this paper, a method to design two-dimensional planar microphone arrays that are capable of capturing three-dimensional (3D) spatial soundfields is proposed. Through the utilization of both omni-directional and first order microphones, the proposed microphone array is capable of measuring soundfield components that are undetectable to conventional planar omni-directional microphone arrays, thus providing the same functionality as 3D arrays designed for the same purpose. Simulations show that the accuracy of the planar microphone array is comparable to traditional spherical microphone arrays. Due to its compact shape, the proposed microphone array greatly increases the feasibility of 3D soundfield analysis techniques in real-world applications.

Clearance Analysis of Node 3 Aft CBM to the Stowed FGB Solar Array

Science.gov (United States)

Liddle, Donn

2014-01-01

In early 2011, the ISS Vehicle Configuration Office began considering the relocation of the Permanent Multipurpose Module (PMM) to the aft facing Common Berthing Mechanism (CBM) on Node 3 to open a berthing location for visiting vehicles on the Node 1 nadir CBM. In this position, computer-aided design (CAD) models indicated that the aft end of the PMM would be only a few inches from the stowed Functional Cargo Block (FGB) port solar array. To validate the CAD model clearance analysis, in the late summer of 2011 the Image Science and Analysis Group (ISAG) was asked to determine the true geometric relationship between the on-orbit aft facing Node 3 CBM and the FGB port solar array. The desired measurements could be computed easily by photogrammetric analysis if current imagery of the ISS hardware were obtained. Beginning in the fall of 2011, ISAG used the Dynamic Onboard Ubiquitous Graphics (DOUG) program to design a way to acquire imagery of the aft face of Node 3, the aft end-cone of Node 1, the port side of pressurized mating adapter 1 (PMA1), and the port side of the FGB out to the tip of the port solar array using cameras on the Space Station Remote Manipulator System (SSRMS). This was complicated by the need to thread the SSRMS under the truss, past Node 3 and the Cupola, and into the space between the aft side of Node 3 and the FGB solar array to acquire more than 100 images from multiple positions. To minimize the number of SSRMS movements, the Special Purpose Dexterous Manipulator (SPDM) would be attached to the SSRMS. This would make it possible to park the SPDM in one position and acquire multiple images by changing the viewing orientation of the SPDM body cameras using the pan/tilt units on which the cameras are mounted. Using this implementation concept, ISAG identified four SSRMS/SPDM positions from which all of the needed imagery could be acquired. Based on a photogrammetric simulation, it was estimated that the location of the FGB solar array could be

Dual-Polarized Planar Phased Array Analysis for Meteorological Applications

Directory of Open Access Journals (Sweden)

Chen Pang

2015-01-01

Full Text Available This paper presents a theoretical analysis for the accuracy requirements of the planar polarimetric phased array radar (PPPAR in meteorological applications. Among many factors that contribute to the polarimetric biases, four factors are considered and analyzed in this study, namely, the polarization distortion due to the intrinsic limitation of a dual-polarized antenna element, the antenna pattern measurement error, the entire array patterns, and the imperfect horizontal and vertical channels. Two operation modes, the alternately transmitting and simultaneously receiving (ATSR mode and the simultaneously transmitting and simultaneously receiving (STSR mode, are discussed. For each mode, the polarimetric biases are formulated. As the STSR mode with orthogonal waveforms is similar to the ATSR mode, the analysis is mainly focused on the ATSR mode and the impacts of the bias sources on the measurement of polarimetric variables are investigated through Monte Carlo simulations. Some insights of the accuracy requirements are obtained and summarized.

Joint Analysis of BICEP2/Keck Array and Planck Data

DEFF Research Database (Denmark)

Ade, P. A. R.; Aghanim, N.; Ahmed, Z.

2015-01-01

We report the results of a joint analysis of data from BICEP2/Keck Array and Planck. BICEP2 and Keck Array have observed the same approximately 400 deg2 patch of sky centered on RA 0 h, Dec. -57.5°. The combined maps reach a depth of 57 nK deg in Stokes Q and U in a band centered at 150 GHz. Planck...... GHz to a lensed-ΛCDM model that includes dust and a possible contribution from inflationary gravitational waves (as parametrized by the tensor-to-scalar ratio r), using a prior on the frequency spectral behavior of polarized dust emission from previous Planck analysis of other regions of the sky. We...... present an alternative analysis which is similar to a map-based cleaning of the dust contribution, and show that this gives similar constraints. The final result is expressed as a likelihood curve for r, and yields an upper limit r 0.05

Blind Time-Frequency Analysis for Source Discrimination in Multisensor Array Processing

National Research Council Canada - National Science Library

Amin, Moeness

1999-01-01

.... We have clearly demonstrated, through analysis and simulations, the offerings of time-frequency distributions in solving key problems in sensor array processing, including direction finding, source...

Design and analysis of high gain array antenna for wireless communication applications

Directory of Open Access Journals (Sweden)

Sri Jaya LAKSHMI

2015-05-01

Full Text Available The array of antennas generally used for directing the radiated power towards a desired angular sector. Arrays can be used to synthesize a required pattern that cannot be achieved with a single element. The geometrical arrangement, number of elements, phases of the array elements and relative amplitudes depends on the angular pattern. This paper is focused on the issues related to the design and implementation of 4×1 array microstrip antenna with aperture coupled corporate feed for wireless local area network applications. Parametric analysis with change in element spacing is attempted in this work to understand the directional characteristics of the radiation pattern. Gain of more than 14 db and the efficiency more than 93% is achieved from the current design at desired frequency band.

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.

Science.gov (United States)

Bianco, Bianca; Christofolini, Denise Maria; Conceição, Gabriel Seixas; Barbosa, Caio Parente

2017-01-01

Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G.T.S., 39-year-old, sought genetic counseling about preimplantation genetic diagnosis process. They have had a 6-year-old son who died due to Duchenne muscular dystrophy complications. The couple underwent four cycles of intracytoplasmic sperm injection (ICSI) and eight embryos biopsies were analyzed by polymerase chain reaction (PCR) for specific mutation analysis, followed by microarray-based comparative genomic hybridisation (array CGH) for aneuploidy analysis. Preimplantation genetic diagnosis revealed that two embryos had inherited the maternal DMD gene mutation, one embryo had a chromosomal alteration and five embryos were normal. One blastocyst was transferred and resulted in successful pregnancy. The other embryos remain vitrified. We concluded that embryo analysis using associated techniques of PCR and array CGH seems to be safe for embryo selection in cases of X-linked disorders, such as Duchenne muscular dystrophy.

Cluster Computing For Real Time Seismic Array Analysis.

Science.gov (United States)

Martini, M.; Giudicepietro, F.

A seismic array is an instrument composed by a dense distribution of seismic sen- sors that allow to measure the directional properties of the wavefield (slowness or wavenumber vector) radiated by a seismic source. Over the last years arrays have been widely used in different fields of seismological researches. In particular they are applied in the investigation of seismic sources on volcanoes where they can be suc- cessfully used for studying the volcanic microtremor and long period events which are critical for getting information on the volcanic systems evolution. For this reason arrays could be usefully employed for the volcanoes monitoring, however the huge amount of data produced by this type of instruments and the processing techniques which are quite time consuming limited their potentiality for this application. In order to favor a direct application of arrays techniques to continuous volcano monitoring we designed and built a small PC cluster able to near real time computing the kinematics properties of the wavefield (slowness or wavenumber vector) produced by local seis- mic source. The cluster is composed of 8 Intel Pentium-III bi-processors PC working at 550 MHz, and has 4 Gigabytes of RAM memory. It runs under Linux operating system. The developed analysis software package is based on the Multiple SIgnal Classification (MUSIC) algorithm and is written in Fortran. The message-passing part is based upon the LAM programming environment package, an open-source imple- mentation of the Message Passing Interface (MPI). The developed software system includes modules devote to receiving date by internet and graphical applications for the continuous displaying of the processing results. The system has been tested with a data set collected during a seismic experiment conducted on Etna in 1999 when two dense seismic arrays have been deployed on the northeast and the southeast flanks of this volcano. A real time continuous acquisition system has been simulated by

Design and Analysis Tools for Deployable Solar Array Systems, Phase I

Data.gov (United States)

National Aeronautics and Space Administration — Large, lightweight, deployable solar array structures have been identified as a key enabling technology for NASA with analysis and design of these structures being...

Design and Analysis Tools for Deployable Solar Array Systems, Phase II

Data.gov (United States)

National Aeronautics and Space Administration — Large, lightweight, deployable solar array structures have been identified as a key enabling technology for NASA with analysis and design of these structures being...

A user-friendly workflow for analysis of Illumina gene expression bead array data available at the arrayanalysis.org portal.

Science.gov (United States)

Eijssen, Lars M T; Goelela, Varshna S; Kelder, Thomas; Adriaens, Michiel E; Evelo, Chris T; Radonjic, Marijana

2015-06-30

Illumina whole-genome expression bead arrays are a widely used platform for transcriptomics. Most of the tools available for the analysis of the resulting data are not easily applicable by less experienced users. ArrayAnalysis.org provides researchers with an easy-to-use and comprehensive interface to the functionality of R and Bioconductor packages for microarray data analysis. As a modular open source project, it allows developers to contribute modules that provide support for additional types of data or extend workflows. To enable data analysis of Illumina bead arrays for a broad user community, we have developed a module for ArrayAnalysis.org that provides a free and user-friendly web interface for quality control and pre-processing for these arrays. This module can be used together with existing modules for statistical and pathway analysis to provide a full workflow for Illumina gene expression data analysis. The module accepts data exported from Illumina's GenomeStudio, and provides the user with quality control plots and normalized data. The outputs are directly linked to the existing statistics module of ArrayAnalysis.org, but can also be downloaded for further downstream analysis in third-party tools. The Illumina bead arrays analysis module is available at http://www.arrayanalysis.org . A user guide, a tutorial demonstrating the analysis of an example dataset, and R scripts are available. The module can be used as a starting point for statistical evaluation and pathway analysis provided on the website or to generate processed input data for a broad range of applications in life sciences research.

Computational biology of genome expression and regulation--a review of microarray bioinformatics.

Science.gov (United States)

Wang, Junbai

2008-01-01

Microarray technology is being used widely in various biomedical research areas; the corresponding microarray data analysis is an essential step toward the best utilizing of array technologies. Here we review two components of the microarray data analysis: a low level of microarray data analysis that emphasizes the designing, the quality control, and the preprocessing of microarray experiments, then a high level of microarray data analysis that focuses on the domain-specific microarray applications such as tumor classification, biomarker prediction, analyzing array CGH experiments, and reverse engineering of gene expression networks. Additionally, we will review the recent development of building a predictive model in genome expression and regulation studies. This review may help biologists grasp a basic knowledge of microarray bioinformatics as well as its potential impact on the future evolvement of biomedical research fields.

Mass accretion and nested array dynamics from Ni-Clad Ti-Al wire array Z pinches

International Nuclear Information System (INIS)

Jones, Brent Manley; Jennings, Christopher A.; Coverdale, Christine Anne; Cuneo, Michael Edward; Maron, Yitzhak; LePell, Paul David; Deeney, Christopher

2010-01-01

Analysis of 50 mm diameter wire arrays at the Z Accelerator has shown experimentally the accretion of mass in a stagnating z pinch and provided insight into details of the radiating plasma species and plasma conditions. This analysis focused on nested wire arrays with a 2:1 (outeninner) mass, radius, and wire number ratio where Al wires were fielded on the outer array and Ni-clad Ti wires were fielded on the inner array.In this presentation, we will present analysis of data from other mixed Al/Ni-clad Ti configurations to further evaluate nested wire array dynamics and mass accretion. These additional configurations include the opposite configuration to that described above (Ni-clad Ti wires on the outer array, with Al wires on the inner array) as well as higher wire number Al configurations fielded to vary the interaction of the two arrays. These same variations were also assessed for a smaller diameter nested array configuration (40 mm). Variations in the emitted radiation and plasma conditions will be presented, along with a discussion of what the results indicate about the nested array dynamics. Additional evidence for mass accretion will also be presented.

Gravitational wave detection and data analysis for pulsar timing arrays

NARCIS (Netherlands)

Haasteren, Rutger van

2011-01-01

Long-term precise timing of Galactic millisecond pulsars holds great promise for measuring long-period (months-to-years) astrophysical gravitational waves. In this work we develop a Bayesian data analysis method for projects called pulsar timing arrays; projects aimed to detect these gravitational

Genomic profiling using array comparative genomic hybridization define distinct subtypes of diffuse large b-cell lymphoma: a review of the literature

Directory of Open Access Journals (Sweden)

Tirado Carlos A

2012-09-01

Full Text Available Abstract Diffuse large B-cell lymphoma (DLBCL is the most common type of non-Hodgkin Lymphoma comprising of greater than 30% of adult non-Hodgkin Lymphomas. DLBCL represents a diverse set of lymphomas, defined as diffuse proliferation of large B lymphoid cells. Numerous cytogenetic studies including karyotypes and fluorescent in situ hybridization (FISH, as well as morphological, biological, clinical, microarray and sequencing technologies have attempted to categorize DLBCL into morphological variants, molecular and immunophenotypic subgroups, as well as distinct disease entities. Despite such efforts, most lymphoma remains undistinguishable and falls into DLBCL, not otherwise specified (DLBCL-NOS. The advent of microarray-based studies (chromosome, RNA, gene expression, etc has provided a plethora of high-resolution data that could potentially facilitate the finer classification of DLBCL. This review covers the microarray data currently published for DLBCL. We will focus on these types of data; 1 array based CGH; 2 classical CGH; and 3 gene expression profiling studies. The aims of this review were three-fold: (1 to catalog chromosome loci that are present in at least 20% or more of distinct DLBCL subtypes; a detailed list of gains and losses for different subtypes was generated in a table form to illustrate specific chromosome loci affected in selected subtypes; (2 to determine common and distinct copy number alterations among the different subtypes and based on this information, characteristic and similar chromosome loci for the different subtypes were depicted in two separate chromosome ideograms; and, (3 to list re-classified subtypes and those that remained indistinguishable after review of the microarray data. To the best of our knowledge, this is the first effort to compile and review available literatures on microarray analysis data and their practical utility in classifying DLBCL subtypes. Although conventional cytogenetic methods such

A feasible strategy of preimplantation genetic diagnosis for carriers with chromosomal translocation: Using blastocyst biopsy and array comparative genomic hybridization

Directory of Open Access Journals (Sweden)

Chu-Chun Huang

2013-09-01

Conclusion: Our study demonstrates an effective PGD strategy with promising outcomes. Blastocyst biopsy can retrieve more genetic material and may provide more reliable results, and aCGH offers not only detection of chromosomal translocation but also more comprehensive analysis of 24 chromosomes than traditional FISH. More cases are needed to verify our results and this strategy might be considered in general clinical practice.

Analysis of radiation damage in on-orbit solar array of Venus explorer Akatsuki

International Nuclear Information System (INIS)

Toyota, Hiroyuki; Shimada, Takanobu; Takahashi, You; Imamura, Takeshi; Hada, Yuko; Ishii, Takako T.; Isobe, Hiroaki; Asai, Ayumi; Shiota, Daikou

2013-01-01

This paper describes an analysis of radiation damage in solar array of Venus explorer Akatsuki observed on orbit. The output voltage of the solar array have shown sudden drops, which are most reasonably associated with radiation damage, three times since its launch. The analysis of these radiation damages is difficult, because no direct observation data of the spectra and the amount of the high-energy particles is available. We calculated the radiation damage using the relative damage coefficient (RDC) method assuming a typical spectral shape of protons. (author)

Numeric-modeling sensitivity analysis of the performance of wind turbine arrays

Energy Technology Data Exchange (ETDEWEB)

Lissaman, P.B.S.; Gyatt, G.W.; Zalay, A.D.

1982-06-01

An evaluation of the numerical model created by Lissaman for predicting the performance of wind turbine arrays has been made. Model predictions of the wake parameters have been compared with both full-scale and wind tunnel measurements. Only limited, full-scale data were available, while wind tunnel studies showed difficulties in representing real meteorological conditions. Nevertheless, several modifications and additions have been made to the model using both theoretical and empirical techniques and the new model shows good correlation with experiment. The larger wake growth rate and shorter near wake length predicted by the new model lead to reduced interference effects on downstream turbines and hence greater array efficiencies. The array model has also been re-examined and now incorporates the ability to show the effects of real meteorological conditions such as variations in wind speed and unsteady winds. The resulting computer code has been run to show the sensitivity of array performance to meteorological, machine, and array parameters. Ambient turbulence and windwise spacing are shown to dominate, while hub height ratio is seen to be relatively unimportant. Finally, a detailed analysis of the Goodnoe Hills wind farm in Washington has been made to show how power output can be expected to vary with ambient turbulence, wind speed, and wind direction.

Identification of novel candidate target genes in amplicons of Glioblastoma multiforme tumors detected by expression and CGH microarray profiling

Directory of Open Access Journals (Sweden)

Hernández-Moneo Jose-Luis

2006-09-01

Full Text Available Abstract Background Conventional cytogenetic and comparative genomic hybridization (CGH studies in brain malignancies have shown that glioblastoma multiforme (GBM is characterized by complex structural and numerical alterations. However, the limited resolution of these techniques has precluded the precise identification of detailed specific gene copy number alterations. Results We performed a genome-wide survey of gene copy number changes in 20 primary GBMs by CGH on cDNA microarrays. A novel amplicon at 4p15, and previously uncharacterized amplicons at 13q32-34 and 1q32 were detected and are analyzed here. These amplicons contained amplified genes not previously reported. Other amplified regions containg well-known oncogenes in GBMs were also detected at 7p12 (EGFR, 7q21 (CDK6, 4q12 (PDGFRA, and 12q13-15 (MDM2 and CDK4. In order to identify the putative target genes of the amplifications, and to determine the changes in gene expression levels associated with copy number change events, we carried out parallel gene expression profiling analyses using the same cDNA microarrays. We detected overexpression of the novel amplified genes SLA/LP and STIM2 (4p15, and TNFSF13B and COL4A2 (13q32-34. Some of the candidate target genes of amplification (EGFR, CDK6, MDM2, CDK4, and TNFSF13B were tested in an independent set of 111 primary GBMs by using FISH and immunohistological assays. The novel candidate 13q-amplification target TNFSF13B was amplified in 8% of the tumors, and showed protein expression in 20% of the GBMs. Conclusion This high-resolution analysis allowed us to propose novel candidate target genes such as STIM2 at 4p15, and TNFSF13B or COL4A2 at 13q32-34 that could potentially contribute to the pathogenesis of these tumors and which would require futher investigations. We showed that overexpression of the amplified genes could be attributable to gene dosage and speculate that deregulation of those genes could be important in the development

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder

Directory of Open Access Journals (Sweden)

Hooper Sean D

2012-12-01

Full Text Available Abstract Background Tourette Syndrome (TS is a neuropsychiatric disorder in children characterized by motor and verbal tics. Although several genes have been suggested in the etiology of TS, the genetic mechanisms remain poorly understood. Methods Using cytogenetics and FISH analysis, we identified an apparently balanced t(6,22(q16.2;p13 in a male patient with TS and obsessive-compulsive disorder (OCD. In order to map the breakpoints and to identify additional submicroscopic rearrangements, we performed whole genome mate-pair sequencing and CGH-array analysis on DNA from the proband. Results Sequence and CGH array analysis revealed a 400 kb deletion located 1.3 Mb telomeric of the chromosome 6q breakpoint, which has not been reported in controls. The deletion affects three genes (GPR63, NDUFA4 and KLHL32 and overlaps a region previously found deleted in a girl with autistic features and speech delay. The proband’s mother, also a carrier of the translocation, was diagnosed with OCD and shares the deletion. We also describe a further potentially related rearrangement which, while unmapped in Homo sapiens, was consistent with the chimpanzee genome. Conclusions We conclude that genome-wide sequencing at relatively low resolution can be used for the identification of submicroscopic rearrangements. We also show that large rearrangements may escape detection using standard analysis of whole genome sequencing data. Our findings further provide a candidate region for TS and OCD on chromosome 6q16.

Copy number variations of genes involved in stress responses reflect the redox state and DNA damage in brewing yeasts.

Science.gov (United States)

Adamczyk, Jagoda; Deregowska, Anna; Skoneczny, Marek; Skoneczna, Adrianna; Natkanska, Urszula; Kwiatkowska, Aleksandra; Rawska, Ewa; Potocki, Leszek; Kuna, Ewelina; Panek, Anita; Lewinska, Anna; Wnuk, Maciej

2016-09-01

The yeast strains of the Saccharomyces sensu stricto complex involved in beer production are a heterogeneous group whose genetic and genomic features are not adequately determined. Thus, the aim of the present study was to provide a genetic characterization of selected group of commercially available brewing yeasts both ale top-fermenting and lager bottom-fermenting strains. Molecular karyotyping revealed that the diversity of chromosome patterns and four strains with the most accented genetic variabilities were selected and subjected to genome-wide array-based comparative genomic hybridization (array-CGH) analysis. The differences in the gene copy number were found in five functional gene categories: (1) maltose metabolism and transport, (2) response to toxin, (3) siderophore transport, (4) cellular aldehyde metabolic process, and (5) L-iditol 2-dehydrogenase activity (p < 0.05). In the Saflager W-34/70 strain (Fermentis) with the most affected array-CGH profile, loss of aryl-alcohol dehydrogenase (AAD) gene dosage correlated with an imbalanced redox state, oxidative DNA damage and breaks, lower levels of nucleolar proteins Nop1 and Fob1, and diminished tolerance to fermentation-associated stress stimuli compared to other strains. We suggest that compromised stress response may not only promote oxidant-based changes in the nucleolus state that may affect fermentation performance but also provide novel directions for future strain improvement.

OpenMSI Arrayed Analysis Toolkit: Analyzing Spatially Defined Samples Using Mass Spectrometry Imaging

DEFF Research Database (Denmark)

de Raad, Markus; de Rond, Tristan; Rübel, Oliver

2017-01-01

://openmsinersc.gov), a platform for storing, sharing, and analyzing MSI data. By using a web-based python notebook (Jupyter), OMAAT is accessible to anyone without programming experience yet allows experienced users to leverage all features. OMAAT was :evaluated by analyzing an MSI data set of a high-throughput glycoside...... processing tools for the analysis of large arrayed MSI sample sets. The OpenMSI Arrayed Analysis Toolkit (OMAAT) is a software package that addresses the challenges of analyzing spatially defined samples in MSI data sets. OMAAT is written in Python and is integrated with OpenMSI (http...

Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa

OpenAIRE

García-García, Gema; Aller, Elena; Jaijo, Teresa; Aparisi, Maria J.; Larrieu, Lise; Faugère, Valérie; Blanco-Kelly, Fiona; Ayuso, Carmen; Roux, Anne-Francoise; Millán, José M.

2014-01-01

Purpose The aim of the present work was to identify and characterize large rearrangements involving the USH2A gene in patients with Usher syndrome and nonsyndromic retinitis pigmentosa. Methods The multiplex ligation-dependent probe amplification (MLPA) technique combined with a customized array-based comparative genomic hybridization (aCGH) analysis was applied to 40 unrelated patients previously screened for point mutations in the USH2A gene in which none or only one pathologic mutation was...

The value of blastocyst culture on preimplantation genetic diagnosis%囊胚培养在植入前遗传学诊断中的价值

Institute of Scientific and Technical Information of China (English)

偶健; 王玮; 马燕琳; 周知; 丁洁; 王馥新; 段程颖; 李林江; 郑爱燕

2015-01-01

Objective To estimate the value of blastocyst culture for preimplantation genetic diagnosis (PGD).Methods Day 3 embryos were biopsied and analyzed with fluorescence in situ hybridization (FISH) technique.Embryos with normal FISH results were cultured into blastocysts,and the ones with better morphology scores were transferred.Fourteen embryos with abnormal FISH results were cultured into blastocysts.Part of the cells taken from the blastocysts were amplified by whole genomic amplification (WGA) and assessed by array-based comparative genomic hybridization (array-CGH) analysis.Results Six blastocysts with normal FISH results were transferred in 5 cycles.Four healthy babies of 3 cycles were delivered.Another one was a singleton pregnancy but with embryo growth arrest,whose villus karyotype was normal.Fourteen embryos with abnormal FISH results were cultured into blastocysts and analyzed by array-CGH.Six blastocysts were normal by array-CGH.Conclusion FISH combined with blastocyst culture may further ensure the accuracy of PGD result.Detection at the blastocyst stage can avoid false positive results and mosaic interferences on Day 3 stage and are therefore more authentic.%目的 探讨囊胚培养在植入前遗传学诊断(preimplantation genetic diagnosis,PGD)中的应用价值.方法 受精后第3天(Day 3)行胚胎活检,进行荧光原位杂交(fluorescent in situ hybridization,FISH).对于诊断为正常的胚胎,培养到囊胚阶段后选择形态评分优良的囊胚进行移植;对于诊断为异常的胚胎,有14个培养到囊胚阶段,各取其一部分细胞用于全基因组扩增(whole genomic amplification,WGA),将扩增后的DNA用微阵列比较基因组杂交(array-based comparative genomic hybridization,arrayCGH)进行再次检测.结果 FISH诊断为正常的6个囊胚进行了5个周期的胚胎移植,3个周期成功生育了4个健康婴儿,1个周期单胎妊娠见胚囊后流产,绒毛染色体检测为正常核型.FISH诊断为异常的14个囊胚用array

MTF measurement and analysis of linear array HgCdTe infrared detectors

Science.gov (United States)

Zhang, Tong; Lin, Chun; Chen, Honglei; Sun, Changhong; Lin, Jiamu; Wang, Xi

2018-01-01

The slanted-edge technique is the main method for measurement detectors MTF, however this method is commonly used on planar array detectors. In this paper the authors present a modified slanted-edge method to measure the MTF of linear array HgCdTe detectors. Crosstalk is one of the major factors that degrade the MTF value of such an infrared detector. This paper presents an ion implantation guard-ring structure which was designed to effectively absorb photo-carriers that may laterally defuse between adjacent pixels thereby suppressing crosstalk. Measurement and analysis of the MTF of the linear array detectors with and without a guard-ring were carried out. The experimental results indicated that the ion implantation guard-ring structure effectively suppresses crosstalk and increases MTF value.

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes.

Science.gov (United States)

Van Esch, Hilde; Jansen, Anna; Bauters, Marijke; Froyen, Guy; Fryns, Jean-Pierre

2007-02-15

We describe a male patient with a deletion at Xp22, detected by high resolution X-array CGH. The clinical phenotype present in this infant boy, consists of severe encephalopathy, congenital cataracts and tetralogy of Fallot and can be attributed to the deletion of the genes within the interval. Among these deleted genes are the gene for Nance-Horan syndrome and the cyclin-dependent kinase-like 5 gene (CDKL5), responsible for the early seizure variant of Rett syndrome. This is the first description of a male patient with a deletion of these genes, showing the involvement of CDKL5 in severe epileptic encephalopathy in males. Moreover it illustrates the added value of high resolution array-CGH in molecular diagnosis of mental retardation-multiple congenital anomaly cases. (c) 2007 Wiley-Liss, Inc.

Array-CGH detection of three cryptic submicroscopic imbalances in ...

Indian Academy of Sciences (India)

2The Second Clinical Medical College (Shenzhen People's Hospital), Jinan University, Guangdong Province. 518020, People's Republic of China ... Here, we describe a phenotypically normal prenatal case who was found to carry an apparently balanced .... Precise definitions of CCRs and their real complexity can only be ...

ArrayExpress update--trends in database growth and links to data analysis tools.

Science.gov (United States)

Rustici, Gabriella; Kolesnikov, Nikolay; Brandizi, Marco; Burdett, Tony; Dylag, Miroslaw; Emam, Ibrahim; Farne, Anna; Hastings, Emma; Ison, Jon; Keays, Maria; Kurbatova, Natalja; Malone, James; Mani, Roby; Mupo, Annalisa; Pedro Pereira, Rui; Pilicheva, Ekaterina; Rung, Johan; Sharma, Anjan; Tang, Y Amy; Ternent, Tobias; Tikhonov, Andrew; Welter, Danielle; Williams, Eleanor; Brazma, Alvis; Parkinson, Helen; Sarkans, Ugis

2013-01-01

The ArrayExpress Archive of Functional Genomics Data (http://www.ebi.ac.uk/arrayexpress) is one of three international functional genomics public data repositories, alongside the Gene Expression Omnibus at NCBI and the DDBJ Omics Archive, supporting peer-reviewed publications. It accepts data generated by sequencing or array-based technologies and currently contains data from almost a million assays, from over 30 000 experiments. The proportion of sequencing-based submissions has grown significantly over the last 2 years and has reached, in 2012, 15% of all new data. All data are available from ArrayExpress in MAGE-TAB format, which allows robust linking to data analysis and visualization tools, including Bioconductor and GenomeSpace. Additionally, R objects, for microarray data, and binary alignment format files, for sequencing data, have been generated for a significant proportion of ArrayExpress data.

Spacecraft Multiple Array Communication System Performance Analysis

Science.gov (United States)

Hwu, Shian U.; Desilva, Kanishka; Sham, Catherine C.

2010-01-01

The Communication Systems Simulation Laboratory (CSSL) at the NASA Johnson Space Center is tasked to perform spacecraft and ground network communication system simulations, design validation, and performance verification. The CSSL has developed simulation tools that model spacecraft communication systems and the space and ground environment in which the tools operate. In this paper, a spacecraft communication system with multiple arrays is simulated. Multiple array combined technique is used to increase the radio frequency coverage and data rate performance. The technique is to achieve phase coherence among the phased arrays to combine the signals at the targeting receiver constructively. There are many technical challenges in spacecraft integration with a high transmit power communication system. The array combining technique can improve the communication system data rate and coverage performances without increasing the system transmit power requirements. Example simulation results indicate significant performance improvement can be achieved with phase coherence implementation.

Pure partial monosomy 3p (3p25.3 → pter: Prenatal diagnosis and array comparative genomic hybridization characterization

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2012-09-01

Conclusion: In this case, aCGH has characterized a 3p deleted region with haploinsufficiency of the neurodevelopmental genes associated with cognitive deficit and mental retardation but without involvement of the congenital heart disease susceptibility locus, and QF-PCR has determined a paternal origin of the deletion. aCGH and QF-PCR help to delineate the genomic imbalance in prenatally detected de novo chromosome aberration, and the information acquired is useful for genetic counseling.

NMD Microarray Analysis for Rapid Genome-Wide Screen of Mutated Genes in Cancer

Directory of Open Access Journals (Sweden)

Maija Wolf

2005-01-01

Full Text Available Gene mutations play a critical role in cancer development and progression, and their identification offers possibilities for accurate diagnostics and therapeutic targeting. Finding genes undergoing mutations is challenging and slow, even in the post-genomic era. A new approach was recently developed by Noensie and Dietz to prioritize and focus the search, making use of nonsense-mediated mRNA decay (NMD inhibition and microarray analysis (NMD microarrays in the identification of transcripts containing nonsense mutations. We combined NMD microarrays with array-based CGH (comparative genomic hybridization in order to identify inactivation of tumor suppressor genes in cancer. Such a “mutatomics” screening of prostate cancer cell lines led to the identification of inactivating mutations in the EPHB2 gene. Up to 8% of metastatic uncultured prostate cancers also showed mutations of this gene whose loss of function may confer loss of tissue architecture. NMD microarray analysis could turn out to be a powerful research method to identify novel mutated genes in cancer cell lines, providing targets that could then be further investigated for their clinical relevance and therapeutic potential.

In vitro analysis of integrated global high-resolution DNA methylation profiling with genomic imbalance and gene expression in osteosarcoma.

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Bekim Sadikovic

Full Text Available Genetic and epigenetic changes contribute to deregulation of gene expression and development of human cancer. Changes in DNA methylation are key epigenetic factors regulating gene expression and genomic stability. Recent progress in microarray technologies resulted in developments of high resolution platforms for profiling of genetic, epigenetic and gene expression changes. OS is a pediatric bone tumor with characteristically high level of numerical and structural chromosomal changes. Furthermore, little is known about DNA methylation changes in OS. Our objective was to develop an integrative approach for analysis of high-resolution epigenomic, genomic, and gene expression profiles in order to identify functional epi/genomic differences between OS cell lines and normal human osteoblasts. A combination of Affymetrix Promoter Tilling Arrays for DNA methylation, Agilent array-CGH platform for genomic imbalance and Affymetrix Gene 1.0 platform for gene expression analysis was used. As a result, an integrative high-resolution approach for interrogation of genome-wide tumour-specific changes in DNA methylation was developed. This approach was used to provide the first genomic DNA methylation maps, and to identify and validate genes with aberrant DNA methylation in OS cell lines. This first integrative analysis of global cancer-related changes in DNA methylation, genomic imbalance, and gene expression has provided comprehensive evidence of the cumulative roles of epigenetic and genetic mechanisms in deregulation of gene expression networks.

Seismic Background Noise Analysis of BRTR (PS-43) Array

Science.gov (United States)

Ezgi Bakir, Mahmure; Meral Ozel, Nurcan; Umut Semin, Korhan

2015-04-01

The seismic background noise variation of BRTR array, composed of two sub arrays located in Ankara and in Ankara-Keskin, has been investigated by calculating Power Spectral Density and Probability Density Functions for seasonal and diurnal noise variations between 2005 and 2011. PSDs were computed within the frequency range of 100 s - 10 Hz. The results show us a little change in noise conditions in terms of time and location. Especially, noise level changes were observed at 3-5 Hz in diurnal variations at Keskin array and there is a 5-7 dB difference in day and night time in cultural noise band (1-10 Hz). On the other hand, noise levels of medium period array is high in 1-2 Hz frequency rather than short period array. High noise levels were observed in daily working times when we compare it to night-time in cultural noise band. The seasonal background noise variation at both sites also shows very similar properties to each other. Since these stations are borehole instruments and away from the coasts, we saw a small change in noise levels caused by microseism. Comparison between Keskin short period array and Ankara medium period array show us Keskin array is quiter than Ankara array.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

NARCIS (Netherlands)

Windpassinger, Christian; Piard, Juliette; Bonnard, Carine; Alfadhel, Majid; Lim, Shuhui; Bisteau, Xavier; Blouin, Stéphane; Ali, Nur'Ain B; Ng, Alvin Yu Jin; Lu, Hao; Tohari, Sumanty; Talib, S Zakiah A; van Hul, Noémi; Caldez, Matias J; Van Maldergem, Lionel; Yigit, Gökhan; Kayserili, Hülya; Youssef, Sameh A; Coppola, Vincenzo; de Bruin, Alain; Tessarollo, Lino; Choi, Hyungwon; Rupp, Verena; Roetzer, Katharina; Roschger, Paul; Klaushofer, Klaus; Altmüller, Janine; Roy, Sudipto; Venkatesh, Byrappa; Ganger, Rudolf; Grill, Franz; Ben Chehida, Farid; Wollnik, Bernd; Altunoglu, Umut; Al Kaissi, Ali; Reversade, Bruno; Kaldis, Philipp

2017-01-01

In five separate families, we identified nine individuals affected by a previously unidentified syndrome characterized by growth retardation, spine malformation, facial dysmorphisms, and developmental delays. Using homozygosity mapping, array CGH, and exome sequencing, we uncovered bi-allelic

Preimplantation genetic diagnosis

Directory of Open Access Journals (Sweden)

Karin Writzl

2013-02-01

Conclusions: Over the last two decades, PGD has been shown to be a reliable and safe genetic test for couples who are at risk of a specific inher - ited disorder. For PGS, the results from several ongoing randomized controlled trials performed at different cell biopsy stage, using array-CGH and SNP array will provide the data needed to evaluate the clinical efficacy.

Discrimination of honeys using colorimetric sensor arrays, sensory analysis and gas chromatography techniques.

Science.gov (United States)

Tahir, Haroon Elrasheid; Xiaobo, Zou; Xiaowei, Huang; Jiyong, Shi; Mariod, Abdalbasit Adam

2016-09-01

Aroma profiles of six honey varieties of different botanical origins were investigated using colorimetric sensor array, gas chromatography-mass spectrometry (GC-MS) and descriptive sensory analysis. Fifty-eight aroma compounds were identified, including 2 norisoprenoids, 5 hydrocarbons, 4 terpenes, 6 phenols, 7 ketones, 9 acids, 12 aldehydes and 13 alcohols. Twenty abundant or active compounds were chosen as key compounds to characterize honey aroma. Discrimination of the honeys was subsequently implemented using multivariate analysis, including hierarchical clustering analysis (HCA) and principal component analysis (PCA). Honeys of the same botanical origin were grouped together in the PCA score plot and HCA dendrogram. SPME-GC/MS and colorimetric sensor array were able to discriminate the honeys effectively with the advantages of being rapid, simple and low-cost. Moreover, partial least squares regression (PLSR) was applied to indicate the relationship between sensory descriptors and aroma compounds. Copyright © 2016 Elsevier Ltd. All rights reserved.

Transient three-dimensional thermal-hydraulic analysis of nuclear reactor fuel rod arrays: general equations and numerical scheme

International Nuclear Information System (INIS)

Wnek, W.J.; Ramshaw, J.D.; Trapp, J.A.; Hughes, E.D.; Solbrig, C.W.

1975-11-01

A mathematical model and a numerical solution scheme for thermal-hydraulic analysis of fuel rod arrays are given. The model alleviates the two major deficiencies associated with existing rod array analysis models, that of a correct transverse momentum equation and the capability of handling reversing and circulatory flows. Possible applications of the model include steady state and transient subchannel calculations as well as analysis of flows in heat exchangers, other engineering equipment, and porous media

High Quality Genomic Copy Number Data from Archival Formalin-Fixed Paraffin-Embedded Leiomyosarcoma: Optimisation of Universal Linkage System Labelling

Science.gov (United States)

Salawu, Abdulazeez; Ul-Hassan, Aliya; Hammond, David; Fernando, Malee; Reed, Malcolm; Sisley, Karen

2012-01-01

Most soft tissue sarcomas are characterized by genetic instability and frequent genomic copy number aberrations that are not subtype-specific. Oligonucleotide microarray-based Comparative Genomic Hybridisation (array CGH) is an important technique used to map genome-wide copy number aberrations, but the traditional requirement for high-quality DNA typically obtained from fresh tissue has limited its use in sarcomas. Although large archives of Formalin-fixed Paraffin-embedded (FFPE) tumour samples are available for research, the degradative effects of formalin on DNA from these tissues has made labelling and analysis by array CGH technically challenging. The Universal Linkage System (ULS) may be used for a one-step chemical labelling of such degraded DNA. We have optimised the ULS labelling protocol to perform aCGH on archived FFPE leiomyosarcoma tissues using the 180k Agilent platform. Preservation age of samples ranged from a few months to seventeen years and the DNA showed a wide range of degradation (when visualised on agarose gels). Consistently high DNA labelling efficiency and low microarray probe-to-probe variation (as measured by the derivative log ratio spread) was seen. Comparison of paired fresh and FFPE samples from identical tumours showed good correlation of CNAs detected. Furthermore, the ability to macro-dissect FFPE samples permitted the detection of CNAs that were masked in fresh tissue. Aberrations were visually confirmed using Fluorescence in situ Hybridisation. These results suggest that archival FFPE tissue, with its relative abundance and attendant clinical data may be used for effective mapping for genomic copy number aberrations in such rare tumours as leiomyosarcoma and potentially unravel clues to tumour origins, progression and ultimately, targeted treatment. PMID:23209738

Efficient Analysis of Systems Biology Markup Language Models of Cellular Populations Using Arrays.

Science.gov (United States)

Watanabe, Leandro; Myers, Chris J

2016-08-19

The Systems Biology Markup Language (SBML) has been widely used for modeling biological systems. Although SBML has been successful in representing a wide variety of biochemical models, the core standard lacks the structure for representing large complex regular systems in a standard way, such as whole-cell and cellular population models. These models require a large number of variables to represent certain aspects of these types of models, such as the chromosome in the whole-cell model and the many identical cell models in a cellular population. While SBML core is not designed to handle these types of models efficiently, the proposed SBML arrays package can represent such regular structures more easily. However, in order to take full advantage of the package, analysis needs to be aware of the arrays structure. When expanding the array constructs within a model, some of the advantages of using arrays are lost. This paper describes a more efficient way to simulate arrayed models. To illustrate the proposed method, this paper uses a population of repressilator and genetic toggle switch circuits as examples. Results show that there are memory benefits using this approach with a modest cost in runtime.

Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells

Directory of Open Access Journals (Sweden)

Meng-Che Tsai

2014-12-01

Conclusion: Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases.

Fulltext PDF

Indian Academy of Sciences (India)

healthy children and three early childhood deaths (two sons and a daughter) with an ... Array CGH in proband's parents did not show any deletion in this region. .... omphalocele, hypospadia and high blood pressure associated to a deletion at ...

Noise analysis and performance of a selfscanned linear InSb detector array

International Nuclear Information System (INIS)

Finger, G.; Meyer, M.; Moorwood, A.F.M.

1987-01-01

A noise model for detectors operated in the capacitive discharge mode is presented. It is used to analyze the noise performance of the ESO nested timing readout technique applied to a linear 32-element InSb array which is multiplexed by a silicon switched-FET shift register. Analysis shows that KTC noise of the videoline is the major noise contribution; it can be eliminated by weighted double-correlated sampling. Best noise performance of this array is achieved at the smallest possible reverse bias voltage (not more than 20 mV) whereas excess noise is observed at higher reverse bias voltages. 5 references

Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

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Halit Akbas

2013-01-01

Full Text Available Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0 referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH. However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb and 4q35.2 (2.449 Mb. In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

Prenatal diagnosis of 4p and 4q subtelomeric microdeletion in de novo ring chromosome 4.

Science.gov (United States)

Akbas, Halit; Cine, Naci; Erdemoglu, Mahmut; Atay, Ahmet Engin; Simsek, Selda; Turkyilmaz, Aysegul; Fidanboy, Mehmet

2013-01-01

Ring chromosomes are unusual abnormalities that are observed in prenatal diagnosis. A 23-year-old patient (gravida 1, para 0) referred for amniocentesis due to abnormal maternal serum screening result in the 16th week of second pregnancy. Cytogenetic analysis of cultured amniyotic fluid cells revealed out ring chromosome 4. Both maternal and paternal karyotypes were normal. Terminal deletion was observed in both 4p and 4q arms of ring chromosome 4 by fluorescence in situ hybridization (FISH). However deletion was not observed in the WHS critical region of both normal and ring chromosome 4 by an additional FISH study. These results were confirmed by means of array-CGH showing terminal deletions on 4p16.3 (130 kb) and 4q35.2 (2.449 Mb). In the 21th week of pregnancy, no gross anomalia, except two weeks symmetric growth retardation, was present in the fetal ultrasonographic examination. According to our review of literature, this is the first prenatal case with 4p and 4q subtelomeric deletion of ring chromosome 4 without the involvement of WHS critical region. Our report describes the prenatal case with a ring chromosome 4 abnormality completely characterized by array-CGH which provided complementary data for genetic counseling of prenatal diagnosis.

Numerical analysis of natural convection and radiation heat transfer from various shaped thin fin-arrays placed on a horizontal plate-a conjugate analysis

International Nuclear Information System (INIS)

Dogan, M.; Sivrioglu, Mecit; Yılmaz, Onder

2014-01-01

Highlights: • Optimum fin shape is determined for natural convection and radiation heat transfer. • Fin array with the optimum shape has a much greater average heat transfer coefficient. • The most important factors affecting the heat transfer coefficient are determined. - Abstract: Steady state natural convection and radiation heat transfer from various shaped thin fin-arrays on a horizontal base plate has been numerically investigated. A conjugate analysis has been carried out in which the conservation equations of mass, momentum and energy for the fluid in the two fin enclosure are solved together with the heat conduction equation in the fin and the base plate. Heat transfer by radiation is also considered in analysis. The heat transfer coefficient has been determined for each of the fin array considered in the present study at the same base and the same total area. The results of the analysis show that there are some important geometrical factors affecting the design of fin arrays. Taking into consideration these factors, an optimum fin shape that yields the highest average heat transfer coefficient has been determined

Fiber-optic microsphere-based antibody array for the analysis of inflammatory cytokines in saliva.

Science.gov (United States)

Blicharz, Timothy M; Siqueira, Walter L; Helmerhorst, Eva J; Oppenheim, Frank G; Wexler, Philip J; Little, Frédéric F; Walt, David R

2009-03-15

Antibody microarrays have emerged as useful tools for high-throughput protein analysis and candidate biomarker screening. We describe here the development of a multiplexed microsphere-based antibody array capable of simultaneously measuring 10 inflammatory protein mediators. Cytokine-capture microspheres were fabricated by covalently coupling monoclonal antibodies specific for cytokines of interest to fluorescently encoded 3.1 microm polymer microspheres. An optical fiber bundle containing approximately 50,000 individual 3.1 microm diameter fibers was chemically etched to create microwells in which cytokine-capture microspheres could be deposited. Microspheres were randomly distributed in the wells to produce an antibody array for performing a multiplexed sandwich immunoassay. The array responded specifically to recombinant cytokine solutions in a concentration-dependent fashion. The array was also used to examine endogenous mediator patterns in saliva supernatants from patients with pulmonary inflammatory diseases such as asthma and chronic obstructive pulmonary disease (COPD). This array technology may prove useful as a laboratory-based platform for inflammatory disease research and diagnostics, and its small footprint could also enable integration into a microfluidic cassette for use in point-of-care testing.

Integrative Genomics Reveals Mechanisms of Copy Number Alterations Responsible for Transcriptional Deregulation in Colorectal Cancer

Science.gov (United States)

Camps, Jordi; Nguyen, Quang Tri; Padilla-Nash, Hesed M.; Knutsen, Turid; McNeil, Nicole E.; Wangsa, Danny; Hummon, Amanda B.; Grade, Marian; Ried, Thomas; Difilippantonio, Michael J.

2016-01-01

To evaluate the mechanisms and consequences of chromosomal aberrations in colorectal cancer (CRC), we used a combination of spectral karyotyping, array comparative genomic hybridization (aCGH), and array-based global gene expression profiling on 31 primary carcinomas and 15 established cell lines. Importantly, aCGH showed that the genomic profiles of primary tumors are recapitulated in the cell lines. We revealed a preponderance of chromosome breakpoints at sites of copy number variants (CNVs) in the CRC cell lines, a novel mechanism of DNA breakage in cancer. The integration of gene expression and aCGH led to the identification of 157 genes localized within high-level copy number changes whose transcriptional deregulation was significantly affected across all of the samples, thereby suggesting that these genes play a functional role in CRC. Genomic amplification at 8q24 was the most recurrent event and led to the overexpression of MYC and FAM84B. Copy number dependent gene expression resulted in deregulation of known cancer genes such as APC, FGFR2, and ERBB2. The identification of only 36 genes whose localization near a breakpoint could account for their observed deregulated expression demonstrates that the major mechanism for transcriptional deregulation in CRC is genomic copy number changes resulting from chromosomal aberrations. PMID:19691111

Comparative genomic hybridization.

Science.gov (United States)

Pinkel, Daniel; Albertson, Donna G

2005-01-01

Altering DNA copy number is one of the many ways that gene expression and function may be modified. Some variations are found among normal individuals ( 14, 35, 103 ), others occur in the course of normal processes in some species ( 33 ), and still others participate in causing various disease states. For example, many defects in human development are due to gains and losses of chromosomes and chromosomal segments that occur prior to or shortly after fertilization, whereas DNA dosage alterations that occur in somatic cells are frequent contributors to cancer. Detecting these aberrations, and interpreting them within the context of broader knowledge, facilitates identification of critical genes and pathways involved in biological processes and diseases, and provides clinically relevant information. Over the past several years array comparative genomic hybridization (array CGH) has demonstrated its value for analyzing DNA copy number variations. In this review we discuss the state of the art of array CGH and its applications in medical genetics and cancer, emphasizing general concepts rather than specific results.

Partial monosomy Xq(Xq23 --> qter) and trisomy 4p(4p15.33 --> pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features.

Science.gov (United States)

Bartocci, Arnaldo; Striano, Pasquale; Mancardi, Maria Margherita; Fichera, Marco; Castiglia, Lucia; Galesi, Ornella; Michelucci, Roberto; Elia, Maurizio

2008-06-01

Studies of epilepsy associated with chromosomal abnormalities may provide information about clinical and EEG phenotypes and possibly to identify new epilepsy genes. We describe a female patient with intractable focal epilepsy, borderline intellectual functioning, and facial dysmorphisms, in whom genetic study (i.e., karyotype and array-CGH analysis) revealed a distal trisomy 4p and distal monosomy Xq. Although any genetic hypothesis remains speculative, several genes are located in the 4p chromosome segment involved in the rearrangement, some of which may be related to epilepsy.

Evaluation of Influenza-Specific Humoral Response by Microbead Array Analysis

Directory of Open Access Journals (Sweden)

Yoav Keynan

2011-01-01

Full Text Available RATIONALE: Quantitation and determination of antigen specificity of systemic and mucosal immune responses to influenza vaccination is beneficial for future vaccine development. Previous methods to acquire this information were costly, time consuming and sample exhaustive. The benefits of suspension microbead array (MBA analysis are numerous. The multiplex capabilities of the system conserve time, money and sample, while generating statistically powerful data.

Cyclotron-Resonance-Maser Arrays

International Nuclear Information System (INIS)

Kesar, A.; Lei, L.; Dikhtyar, V.; Korol, M.; Jerby, E.

1999-01-01

The cyclotron-resonance-maser (CRM) array [1] is a radiation source which consists of CRM elements coupled together under a common magnetic field. Each CRM-element employs a low-energy electron-beam which performs a cyclotron interaction with the local electromagnetic wave. These waves can be coupled together among the CRM elements, hence the interaction is coherently synchronized in the entire array. The implementation of the CRM-array approach may alleviate several technological difficulties which impede the development of single-beam gyro-devices. Furthermore, it proposes new features, such as the phased-array antenna incorporated in the CRM-array itself. The CRM-array studies may lead to the development of compact, high-power radiation sources operating at low-voltages. This paper introduces new conceptual schemes of CRM-arrays, and presents the progress in related theoretical and experimental studies in our laboratory. These include a multi-mode analysis of a CRM-array, and a first operation of this device with five carbon-fiber cathodes

Case report: cytogenetic and molecular analysis of proximal interstitial deletion of 4p, review of the literature and comparison with wolf-hirschhorn syndrome.

Science.gov (United States)

Bailey, Nathanael G; South, Sarah T; Hummel, Marybeth; Wenger, Sharon L

2010-01-01

We report on a two-year-old female with a de novo proximal interstitial deletion of the short arm of chromosome 4 and a tetralogy of Fallot malformation. The patient had a karyotype of 46,XX,del(4)(p14p15.33) that was further characterized by array comparative genomic hybridization (aCGH). Phenotypic abnormalities for our patient are compared with those of previously reported patients with similar proximal 4p deletions as well as more distal deletions. The functions of genes that are deleted within this segment are reviewed.

Degree-of-Freedom Strengthened Cascade Array for DOD-DOA Estimation in MIMO Array Systems.

Science.gov (United States)

Yao, Bobin; Dong, Zhi; Zhang, Weile; Wang, Wei; Wu, Qisheng

2018-05-14

In spatial spectrum estimation, difference co-array can provide extra degrees-of-freedom (DOFs) for promoting parameter identifiability and parameter estimation accuracy. For the sake of acquiring as more DOFs as possible with a given number of physical sensors, we herein design a novel sensor array geometry named cascade array. This structure is generated by systematically connecting a uniform linear array (ULA) and a non-uniform linear array, and can provide more DOFs than some exist array structures but less than the upper-bound indicated by minimum redundant array (MRA). We further apply this cascade array into multiple input multiple output (MIMO) array systems, and propose a novel joint direction of departure (DOD) and direction of arrival (DOA) estimation algorithm, which is based on a reduced-dimensional weighted subspace fitting technique. The algorithm is angle auto-paired and computationally efficient. Theoretical analysis and numerical simulations prove the advantages and effectiveness of the proposed array structure and the related algorithm.

Stochastic resolution analysis of co-prime arrays in radar

NARCIS (Netherlands)

Pribic, R; Coutiño Minguez, M.A.; Leus, G.J.T.

2016-01-01

Resolution from co-prime arrays and from a full ULA of the size equal to the virtual size of co-prime arrays is investigated. We take into account not only the resulting beam width but also the fact that fewer measurements are acquired by co-prime arrays. This fact is relevant in compressive

Brucella abortus choloylglycine hydrolase affects cell envelope composition and host cell internalization.

Directory of Open Access Journals (Sweden)

María Inés Marchesini

Full Text Available Choloylglycine hydrolase (CGH, E.C. 3.5.1.24 is a conjugated bile salt hydrolase that catalyses the hydrolysis of the amide bond in conjugated bile acids. Bile salt hydrolases are expressed by gastrointestinal bacteria, and they presumably decrease the toxicity of host's conjugated bile salts. Brucella species are the causative agents of brucellosis, a disease affecting livestock and humans. CGH confers Brucella the ability to deconjugate and resist the antimicrobial action of bile salts, contributing to the establishment of a successful infection through the oral route in mice. Additionally, cgh-deletion mutant was also attenuated in intraperitoneally inoculated mice, which suggests that CGH may play a role during systemic infection other than hydrolyzing conjugated bile acids. To understand the role CGH plays in B. abortus virulence, we infected phagocytic and epithelial cells with a cgh-deletion mutant (Δcgh and found that it is defective in the internalization process. This defect along with the increased resistance of Δcgh to the antimicrobial action of polymyxin B, prompted an analysis of the cell envelope of this mutant. Two-dimensional electrophoretic profiles of Δcgh cell envelope-associated proteins showed an altered expression of Omp2b and different members of the Omp25/31 family. These results were confirmed by Western blot analysis with monoclonal antibodies. Altogether, the results indicate that Brucella CGH not only participates in deconjugation of bile salts but also affects overall membrane composition and host cell internalization.

Analysis of oligonucleotide array experiments with repeated measures using mixed models

Directory of Open Access Journals (Sweden)

Getchell Thomas V

2004-12-01

Full Text Available Abstract Background Two or more factor mixed factorial experiments are becoming increasingly common in microarray data analysis. In this case study, the two factors are presence (Patients with Alzheimer's disease or absence (Control of the disease, and brain regions including olfactory bulb (OB or cerebellum (CER. In the design considered in this manuscript, OB and CER are repeated measurements from the same subject and, hence, are correlated. It is critical to identify sources of variability in the analysis of oligonucleotide array experiments with repeated measures and correlations among data points have to be considered. In addition, multiple testing problems are more complicated in experiments with multi-level treatments or treatment combinations. Results In this study we adopted a linear mixed model to analyze oligonucleotide array experiments with repeated measures. We first construct a generalized F test to select differentially expressed genes. The Benjamini and Hochberg (BH procedure of controlling false discovery rate (FDR at 5% was applied to the P values of the generalized F test. For those genes with significant generalized F test, we then categorize them based on whether the interaction terms were significant or not at the α-level (αnew = 0.0033 determined by the FDR procedure. Since simple effects may be examined for the genes with significant interaction effect, we adopt the protected Fisher's least significant difference test (LSD procedure at the level of αnew to control the family-wise error rate (FWER for each gene examined. Conclusions A linear mixed model is appropriate for analysis of oligonucleotide array experiments with repeated measures. We constructed a generalized F test to select differentially expressed genes, and then applied a specific sequence of tests to identify factorial effects. This sequence of tests applied was designed to control for gene based FWER.

A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome

DEFF Research Database (Denmark)

Roos, L; Jønch, A E; Kjaergaard, S

2009-01-01

BACKGROUND: The use of array comparative genome hybridisation (CGH) analyses for investigation of children with mental retardation has led to the identification of a growing number of new microdeletion and microduplication syndromes, some of which have become clinically well characterised and som...

Romanian earthquakes analysis using BURAR seismic array

International Nuclear Information System (INIS)

Borleanu, Felix; Rogozea, Maria; Nica, Daniela; Popescu, Emilia; Popa, Mihaela; Radulian, Mircea

2008-01-01

Bucovina seismic array (BURAR) is a medium-aperture array, installed in 2002 in the northern part of Romania (47.61480 N latitude, 25.21680 E longitude, 1150 m altitude), as a result of the cooperation between Air Force Technical Applications Center, USA and National Institute for Earth Physics, Romania. The array consists of ten elements, located in boreholes and distributed over a 5 x 5 km 2 area; nine with short-period vertical sensors and one with a broadband three-component sensor. Since the new station has been operating the earthquake survey of Romania's territory has been significantly improved. Data recorded by BURAR during 01.01.2005 - 12.31.2005 time interval are first processed and analyzed, in order to establish the array detection capability of the local earthquakes, occurred in different Romanian seismic zones. Subsequently a spectral ratios technique was applied in order to determine the calibration relationships for magnitude, using only the information gathered by BURAR station. The spectral ratios are computed relatively to a reference event, considered as representative for each seismic zone. This method has the advantage to eliminate the path effects. The new calibration procedure is tested for the case of Vrancea intermediate-depth earthquakes and proved to be very efficient in constraining the size of these earthquakes. (authors)

Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

Directory of Open Access Journals (Sweden)

Nagel Bert

2012-07-01

Full Text Available Abstract Background Left ventricular hypertrabeculation/noncompaction (LVHT is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism. Case presentation A unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anomalies is presented in a 5.5 years old girl. Microarray-based genomic hybridization (array-CGH detected six previously not described copy number variants (CNVs inherited from a clinically unaffected father and minimally affected mother, thus, most likely, not clinically significant but rare benign variants. Conclusions Despite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.

Recovery and evolutionary analysis of complete integron gene cassette arrays from Vibrio

Directory of Open Access Journals (Sweden)

Gillings Michael R

2006-01-01

Full Text Available Abstract Background Integrons are genetic elements capable of the acquisition, rearrangement and expression of genes contained in gene cassettes. Gene cassettes generally consist of a promoterless gene associated with a recombination site known as a 59-base element (59-be. Multiple insertion events can lead to the assembly of large integron-associated cassette arrays. The most striking examples are found in Vibrio, where such cassette arrays are widespread and can range from 30 kb to 150 kb. Besides those found in completely sequenced genomes, no such array has yet been recovered in its entirety. We describe an approach to systematically isolate, sequence and annotate large integron gene cassette arrays from bacterial strains. Results The complete Vibrio sp. DAT722 integron cassette array was determined through the streamlined approach described here. To place it in an evolutionary context, we compare the DAT722 array to known vibrio arrays and performed phylogenetic analyses for all of its components (integrase, 59-be sites, gene cassette encoded genes. It differs extensively in terms of genomic context as well as gene cassette content and organization. The phylogenetic tree of the 59-be sites collectively found in the Vibrio gene cassette pool suggests frequent transfer of cassettes within and between Vibrio species, with slower transfer rates between more phylogenetically distant relatives. We also identify multiple cases where non-integron chromosomal genes seem to have been assembled into gene cassettes and others where cassettes have been inserted into chromosomal locations outside integrons. Conclusion Our systematic approach greatly facilitates the isolation and annotation of large integrons gene cassette arrays. Comparative analysis of the Vibrio sp. DAT722 integron obtained through this approach to those found in other vibrios confirms the role of this genetic element in promoting lateral gene transfer and suggests a high rate of gene

Vertical nanowire arrays as a versatile platform for protein detection and analysis

DEFF Research Database (Denmark)

Rostgaard, Katrine R.; Frederiksen, Rune S.; Liu, Yi-Chi

2013-01-01

solutions. Here we show that vertical arrays of nanowires (NWs) can overcome several bottlenecks of using nanoarrays for extraction and analysis of proteins. The high aspect ratio of the NWs results in a large surface area available for protein immobilization and renders passivation of the surface between...

Clinical-radiological, histological and genetic analyses in a lung transplant recipient with Mounier-Kuhn syndrome and end-stage chronic obstructive pulmonary disease.

Science.gov (United States)

Mitterbauer, Andreas; Hoetzenecker, Konrad; Birner, Peter; Mildner, Michael; Prosch, Helmut; Streubel, Berthold; Taghavi, Shahrokh; Klepetko, Walter; Ankersmit, Hendrik Jan

2015-07-01

The Mounier-Kuhn syndrome (MKS) is a rare disease characterized by a pathological dilation of the trachea and the bronchial system. The etiology of the disorder remains elusive, but genetic alterations and degradation of elastic fibers are thought to be involved in the pathogenesis. No causative treatment is available although transplantation is an option for end-stage disease. Here, we describe a patient suffering from MKS who received a double lung transplant at our department. Since a familial clustering of MKS is discussed in the literature, we performed a chromosomal analysis and an array-comparative genomic hybridization (CGH) to search for genetic abnormalities. At the time of transplantation, we collected samples from the bronchi and performed hematoxylin and eosin (HE), Elastic von-Gieson (EVG) and immunohistochemical stains of the explanted MKS bronchus, a control bronchus and of the inflammatory infiltrates. Specimens of main bronchi from the donor lung harvested for transplant served as control. Bronchial smears were taken from both main bronchi of the recipient for microbiological cultures. No genetic alterations could be found in chromosomal analysis and in array-CGH. Histological analysis revealed a strong reduction of elastic fibers in the submucosal connective tissue and a diffuse inflammatory infiltrate, mainly comprised of CD4+ cells. In addition, immunohistochemistry showed increased matrix metalloproteinases (MMPs) protein expression of MMP-1, 2, 3 and 9. Based on our findings, we hypothesize that MKS is a chronic inflammatory disease characterized by an MMP-mediated degradation of submucosal elastic fibers. © 2014 John Wiley & Sons Ltd.

OpenMSI Arrayed Analysis Toolkit: Analyzing Spatially Defined Samples Using Mass Spectrometry Imaging

Energy Technology Data Exchange (ETDEWEB)

de Raad, Markus [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); de Rond, Tristan [Univ. of California, Berkeley, CA (United States); Rübel, Oliver [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Keasling, Jay D. [Univ. of California, Berkeley, CA (United States); Joint BioEnergy Inst. (JBEI), Emeryville, CA (United States); Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Technical Univ. of Denmark, Lyngby (Denmark); Northen, Trent R. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States); Bowen, Benjamin P. [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); USDOE Joint Genome Institute (JGI), Walnut Creek, CA (United States)

2017-05-03

Mass spectrometry imaging (MSI) has primarily been applied in localizing biomolecules within biological matrices. Although well-suited, the application of MSI for comparing thousands of spatially defined spotted samples has been limited. One reason for this is a lack of suitable and accessible data processing tools for the analysis of large arrayed MSI sample sets. In this paper, the OpenMSI Arrayed Analysis Toolkit (OMAAT) is a software package that addresses the challenges of analyzing spatially defined samples in MSI data sets. OMAAT is written in Python and is integrated with OpenMSI (http://openmsi.nersc.gov), a platform for storing, sharing, and analyzing MSI data. By using a web-based python notebook (Jupyter), OMAAT is accessible to anyone without programming experience yet allows experienced users to leverage all features. OMAAT was evaluated by analyzing an MSI data set of a high-throughput glycoside hydrolase activity screen comprising 384 samples arrayed onto a NIMS surface at a 450 μm spacing, decreasing analysis time >100-fold while maintaining robust spot-finding. The utility of OMAAT was demonstrated for screening metabolic activities of different sized soil particles, including hydrolysis of sugars, revealing a pattern of size dependent activities. Finally, these results introduce OMAAT as an effective toolkit for analyzing spatially defined samples in MSI. OMAAT runs on all major operating systems, and the source code can be obtained from the following GitHub repository: https://github.com/biorack/omaat.

Generalized pustular psoriasis in infant with heterozygous mutation in the IL36RN gene successfully treated with infliximab

DEFF Research Database (Denmark)

Glerup, Mia; Herlin, Troels; Veirum, Jens Erik

, but to our knowledge heterozygous IL36RN mutation related to severe generalized pustular psoriasis in early childhood has not been described. Case presentation: First child of non-consanguineous caucasian (Danish) parents prenatally diagnosed with tetralogy of Fallot. Array CGH revealed normal karyotype...

Genetic profiling differentiates second primary tumors from metastases in adult metachronous soft tissue sarcoma

DEFF Research Database (Denmark)

Fernebro, Josefin; Carneiro, Ana; Rydholm, Anders

2008-01-01

Purpose. Patients with soft tissue sarcomas (STS) are at increased risk of second primary malignancies, including a second STS, but distinction between metastases and a second primary STS is difficult. Patients and Methods. Array-based comparative genomic hybridization (aCGH) was applied to 30 mu...

TiArA: a virtual appliance for the analysis of Tiling Array data.

Directory of Open Access Journals (Sweden)

Jason A Greenbaum

2010-04-01

Full Text Available Genomic tiling arrays have been described in the scientific literature since 2003, yet there is a shortage of user-friendly applications available for their analysis.Tiling Array Analyzer (TiArA is a software program that provides a user-friendly graphical interface for the background subtraction, normalization, and summarization of data acquired through the Affymetrix tiling array platform. The background signal is empirically measured using a group of nonspecific probes with varying levels of GC content and normalization is performed to enforce a common dynamic range.TiArA is implemented as a standalone program for Linux systems and is available as a cross-platform virtual machine that will run under most modern operating systems using virtualization software such as Sun VirtualBox or VMware. The software is available as a Debian package or a virtual appliance at http://purl.org/NET/tiara.

Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes

Directory of Open Access Journals (Sweden)

Francesca Malvestiti

2013-01-01

Full Text Available Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4.

Single-electron tunnel junction array

International Nuclear Information System (INIS)

Likharev, K.K.; Bakhvalov, N.S.; Kazacha, G.S.; Serdyukova, S.I.

1989-01-01

The authors have carried out an analysis of statics and dynamics of uniform one-dimensional arrays of ultrasmall tunnel junctions. The correlated single-electron tunneling in the junctions of the array results in its behavior qualitatively similar to that of the Josephson transmission line. In particular, external electric fields applied to the array edges can inject single-electron-charged solitons into the array interior. Shape of such soliton and character of its interactions with other solitons and the array edges are very similar to those of the Josephson vortices (sine-Gordon solitons) in the Josephson transmission line. Under certain conditions, a coherent motion of the soliton train along the array is possible, resulting in generation of narrowband SET oscillations with frequency f/sub s/ = /e where is the dc current flowing along the array

Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report

Directory of Open Access Journals (Sweden)

Mulatinho Milene

2012-06-01

Full Text Available Abstract Background Recently, array-comparative genomic hybridization (aCGH platforms have significantly improved the resolution of chromosomal analysis allowing the identification of genomic copy number gains and losses smaller than 5 Mb. Here we report on a young man with unexplained severe mental retardation, autism spectrum disorder, congenital malformations comprising hypospadia and omphalocele, and episodes of high blood pressure. An ~ 6 Mb interstitial deletion that includes the causative genes is identified by oligonucleotide-based aCGH. Results Our index case exhibited a de novo chromosomal abnormality at 2q22 [del(2(q22.1q22.3dn] which was not visible at the 550 haploid band level. The deleted region includes eight genes: HNMT, SPOPL, NXPH2, LOC64702, LRP1B, KYNU, ARHGAP15 and GTDC1. Discussion aCGH revealed an ~ 6 Mb deletion in 2q22.1 to 2q22.3 in an as-yet unique clinical case associated with intellectual disability, congenital malformations and autism spectrum disorder. Interestingly, the deletion is co-localized with a fragile site (FRA2K, which could be involved in the formation of this chromosomal aberration. Further studies are needed to determine if deletions of 2q22.1 to 2q22.3 define a new microdeletion syndrome.

Flat-plate photovoltaic array design optimization

Science.gov (United States)

Ross, R. G., Jr.

1980-01-01

An analysis is presented which integrates the results of specific studies in the areas of photovoltaic structural design optimization, optimization of array series/parallel circuit design, thermal design optimization, and optimization of environmental protection features. The analysis is based on minimizing the total photovoltaic system life-cycle energy cost including repair and replacement of failed cells and modules. This approach is shown to be a useful technique for array optimization, particularly when time-dependent parameters such as array degradation and maintenance are involved.

An Introduction to MAMA (Meta-Analysis of MicroArray data) System.

Science.gov (United States)

Zhang, Zhe; Fenstermacher, David

2005-01-01

Analyzing microarray data across multiple experiments has been proven advantageous. To support this kind of analysis, we are developing a software system called MAMA (Meta-Analysis of MicroArray data). MAMA utilizes a client-server architecture with a relational database on the server-side for the storage of microarray datasets collected from various resources. The client-side is an application running on the end user's computer that allows the user to manipulate microarray data and analytical results locally. MAMA implementation will integrate several analytical methods, including meta-analysis within an open-source framework offering other developers the flexibility to plug in additional statistical algorithms.

Performance analysis of solar cell arrays in concentrating light intensity

International Nuclear Information System (INIS)

Xu Yongfeng; Li Ming; Lin Wenxian; Wang Liuling; Xiang Ming; Zhang Xinghua; Wang Yunfeng; Wei Shengxian

2009-01-01

Performance of concentrating photovoltaic/thermal system is researched by experiment and simulation calculation. The results show that the I-V curve of the GaAs cell array is better than that of crystal silicon solar cell arrays and the exergy produced by 9.51% electrical efficiency of the GaAs solar cell array can reach 68.93% of the photovoltaic/thermal system. So improving the efficiency of solar cell arrays can introduce more exergy and the system value can be upgraded. At the same time, affecting factors of solar cell arrays such as series resistance, temperature and solar irradiance also have been analyzed. The output performance of a solar cell array with lower series resistance is better and the working temperature has a negative impact on the voltage in concentrating light intensity. The output power has a -20 W/V coefficient and so cooling fluid must be used. Both heat energy and electrical power are then obtained with a solar trough concentrating photovoltaic/thermal system. (semiconductor devices)

Différentes structures des marqueurs chromosomiques

African Journals Online (AJOL)

abp

hétérochromatine et d'euchromatine des chromosomes accrocentriques. En 1992, la technique de la CGH puis sa dérivée la "CGHarray µ array comparative genomic Hybridization", techniques basées sur la comparaison entre l'ADN d'un patient avec ...

Nonparametric testing for DNA copy number induced differential mRNA gene expression

NARCIS (Netherlands)

van Wieringen, W.N.; van de Wiel, M.A.

2009-01-01

The central dogma of molecular biology relates DNA with mRNA. Array CGH measures DNA copy number and gene expression microarrays measure the amount of mRNA. Methods that integrate data from these two platforms may uncover meaningful biological relationships that further our understanding of cancer.

Matrix-comparative genomic hybridization from multicenter formalin-fixed paraffin-embedded colorectal cancer tissue blocks

Directory of Open Access Journals (Sweden)

Köhne Claus-Henning

2007-04-01

Full Text Available Abstract Background The identification of genomic signatures of colorectal cancer for risk stratification requires the study of large series of cancer patients with an extensive clinical follow-up. Multicentric clinical studies represent an ideal source of well documented archived material for this type of analyses. Methods To verify if this material is technically suitable to perform matrix-CGH, we performed a pilot study using macrodissected 29 formalin-fixed, paraffin-embedded tissue samples collected within the framework of the EORTC-GI/PETACC-2 trial for colorectal cancer. The scientific aim was to identify prognostic genomic signatures differentiating locally restricted (UICC stages II-III from systemically advanced (UICC stage IV colorectal tumours. Results The majority of archived tissue samples collected in the different centers was suitable to perform matrix-CGH. 5/7 advanced tumours displayed 13q-gain and 18q-loss. In locally restricted tumours, only 6/12 tumours showed a gain on 13q and 7/12 tumours showed a loss on 18q. Interphase-FISH and high-resolution array-mapping of the gain on 13q confirmed the validity of the array-data and narrowed the chromosomal interval containing potential oncogenes. Conclusion Archival, paraffin-embedded tissue samples collected in multicentric clinical trials are suitable for matrix-CGH analyses and allow the identification of prognostic signatures and aberrations harbouring potential new oncogenes.

Prevention of Ovarian High-Grade Serous Carcinoma by Elucidating Its Early Change

Science.gov (United States)

2013-10-01

the Affymetrix 6.0 SNP array instead of the oligonucleotide Agilent 1M CGH array for somatic copy number alterations, due to familiarity and reliable...epithelium. As a result, a significant effort has been placed on determining the menstrual status of samples collected – this has included reviewing the...HRT at time of surgery o Unknown menstrual cycle status at time of surgery The tissue microarray includes the following permutations (2 cores per

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.

Science.gov (United States)

Coppola, Antonietta; Striano, Pasquale; Gimelli, Stefania; Ciampa, Clotilde; Santulli, Lia; Caranci, Ferdinando; Zuffardi, Orsetta; Gimelli, Giorgio; Striano, Salvatore; Zara, Federico

2010-03-01

We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.

Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome

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Ruixue Cao

2015-01-01

Full Text Available Background: Cornelia de Lange Syndrome (CdLS is a rare but severe clinically heterogeneous developmental disorder characterized by facial dysmorphia, growth and cognitive retardation, and abnormalities of limb development. Objectives: To determine the pathogenesis of a patient with CdLS. Methods: We studied a patient with CdLS by whole exome sequencing, karyotyping and Agilent CGH Array. The results were confirmed by quantitative real-time PCR analysis of the patient and her parents. Further comparison of our patient and cases with partially overlapping deletions retrieved from the literature and databases was undertaken. Results: Whole exome sequencing had excluded the mutation of cohesion genes such as NIPBL,SMC1A and SMC3. The result of karyotyping showed a deletion of chromosome 9q31.1-q32 and the result of Agilent CGH Array further displayed a 12.01-Mb region of deletion at chromosome bands 9q31.1-q32. Reported cases with the deletion of 9q31.1-q32 share similar features with our CdLS patient. One of the genes in the deleted region, SMC2, belongs to the Structural Maintenance of Chromosomes (SMC family and regulates gene expression and DNA repair. Conclusions: Patients carrying the deletion of 9q31.1-q32 showed similar phenotypes with CdLS.

Vrancea seismic source analysis using a small-aperture array

International Nuclear Information System (INIS)

Popescu, E.; Popa, M.; Radulian, M.; Placinta, A.O.

2005-01-01

A small-aperture seismic array (BURAR) was installed in 1999 in the northern part of the Romanian territory (Bucovina area). Since then, the array has been in operation under a joint cooperation programme between Romania and USA. The array consists of 10 stations installed in boreholes (nine short period instruments and one broadband instrument) with enough high sensitivity to properly detect earthquakes generated in Vrancea subcrustal domain (at about 250 km epicentral distance) with magnitude M w below 3. Our main purpose is to investigate and calibrate the source parameters of the Vrancea intermediate-depth earthquakes using specific techniques provided by the BURAR array data. Forty earthquakes with magnitudes between 2.9 and 6.0 were selected, including the recent events of September 27, 2004 (45.70 angle N, 26.45 angle E, h = 166 km, M w = 4.7), October 27, 2004 (45.84 angle N, 26.63 angle E, h = 105 km, M w = 6.0) and May 14, 2005 (45.66 angle N, 26.52 angle E, h = 146 km, M w = 5.1), which are the best ever recorded earthquakes on the Romanian territory: Empirical Green's function deconvolution and spectral ratio methods are applied for pairs of collocated events with similar focal mechanism. Stability tests are performed for the retrieved source time function using the array elements. Empirical scaling and calibration relationships are also determined. Our study shows the capability of the BURAR array to determine the source parameters of the Vrancea intermediate-depth earthquakes as a stand alone station and proves that the recordings of this array alone provides reliable and useful tools to efficiently constrain the source parameters and consequently source scaling properties. (authors)

Genetical stability and osteogenic ability of mesenchimal stem cells on demineralized bone matrices

Directory of Open Access Journals (Sweden)

A. Pozzuoli

2015-03-01

Full Text Available Aim Tissue engineering is a rapidly expanding field with regard to the use of biomaterials and stem cells in the orthopedic surgery. Many experimental studies have been done to understand the best characteristics of cells, materials and laboratory methods for safe clinical applications. The aim of this study was to compare the ability of 2 different human demineralized bone matrices (DBMs, the one enriched and the other not enriched with hyaluronic acid, to stimulate in vitro the proliferation and the osteogenic differentiation of human adipose-derived stem cells (ADSCs seeded onto an osteoconductive scaffold. Materials and Methods ADSCs were isolated, by enzymatic digestion, from abdominal adipose tissue of 5 patients undergoing cosmetic lipoaspiration surgery. ADSCs were then seeded onto a 3D scaffold in the presence of the two different osteoinductive matrices of human demineralized bone and evaluated for proliferation and osteogenic differentiation. The safety of the methods was verified using array-Comparative Genomic Hybridization (array-CGH. Results ADSCs were able to differentiate in osteogenic sense. Both DBMs showed the ability to induce osteogenic differentiation of the cells. Conclusion array-CGH showed no changes at genome level, thus confirming the safety of materials and methods.

Indoor air quality inspection and analysis system based on gas sensor array

Science.gov (United States)

Gao, Xiang; Wang, Mingjiang; Fan, Binwen

2017-08-01

A detection and analysis system capable of measuring the concentration of four major gases in indoor air is designed. It uses four gas sensors constitute a gas sensor array, to achieve four indoor gas concentration detection, while the detection of data for further processing to reduce the cross-sensitivity between the gas sensor to improve the accuracy of detection.

Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly

Directory of Open Access Journals (Sweden)

Pi-Lin Sung

2012-06-01

Conclusion: Array CGH is a useful tool not only to discover the genomic imbalance at the breakpoints as well as to detect unexpectedly complex rearrangements in other chromosomes. Our case also provided evidence that genomic aberration at chromosome 16p13.11 involves in the formation of polydactyly.

3q27.3 microdeletional syndrome

DEFF Research Database (Denmark)

Thevenon, Julien; Callier, Patrick; Poquet, Hélène

2014-01-01

BACKGROUND: Since the advent of array-CGH, numerous new microdeletional syndromes have been delineated while others remain to be described. Although 3q29 subtelomeric deletion is a well-described syndrome, there is no report on 3q interstitial deletions. METHODS: We report for the first time seve...

The OncoArray Consortium

DEFF Research Database (Denmark)

Amos, Christopher I; Dennis, Joe; Wang, Zhaoming

2017-01-01

by Illumina to facilitate efficient genotyping. The consortium developed standard approaches for selecting SNPs for study, for quality control of markers, and for ancestry analysis. The array was genotyped at selected sites and with prespecified replicate samples to permit evaluation of genotyping accuracy...... among centers and by ethnic background. RESULTS: The OncoArray consortium genotyped 447,705 samples. A total of 494,763 SNPs passed quality control steps with a sample success rate of 97% of the samples. Participating sites performed ancestry analysis using a common set of markers and a scoring...

Determination of chorionic gonadotrophin. Comparison of biological, immunological and radioimmunological methods

International Nuclear Information System (INIS)

Munier, M.-P.

1978-07-01

Three types of analysis were used to quantify chorionic gonadotrophic hormone: biological determination (rana-reaction); immunological determination (simplified pregnosticon test of the Organon Teknika laboratories); radioimmunological determination (Commissariat a l'Energie Atomique - CEA kits). While the immunochemical technique is specially suited to analysis of the urine, the radioimmunological measurement is carried out on the plasma. This method is extremely sensitive; when traditional biological and immunological methods are used the quantity of CGH detectable is of the order of some hundreds or at best a few tens of international units. The radioimmunological method is a thousand times more sensitive and can therefore measure CGH in amounts of the milli-unit order. Until recently it was not specific enough to differentiate between CGH and LH, but not long ago a β CGH-specific antibody was discovered and it is now possible to detect small amounts of CGH in the presence of LH [fr

Analyzing Array Manipulating Programs by Program Transformation

Science.gov (United States)

Cornish, J. Robert M.; Gange, Graeme; Navas, Jorge A.; Schachte, Peter; Sondergaard, Harald; Stuckey, Peter J.

2014-01-01

We explore a transformational approach to the problem of verifying simple array-manipulating programs. Traditionally, verification of such programs requires intricate analysis machinery to reason with universally quantified statements about symbolic array segments, such as "every data item stored in the segment A[i] to A[j] is equal to the corresponding item stored in the segment B[i] to B[j]." We define a simple abstract machine which allows for set-valued variables and we show how to translate programs with array operations to array-free code for this machine. For the purpose of program analysis, the translated program remains faithful to the semantics of array manipulation. Based on our implementation in LLVM, we evaluate the approach with respect to its ability to extract useful invariants and the cost in terms of code size.

Heritable Genetic Changes in Cells Recovered From Irradiated 3D Tissue Contracts. Final report

Energy Technology Data Exchange (ETDEWEB)

Cornforth, Michael N. [The University of Texas Medical Branch at Galveston, TX (United States)

2013-05-03

Combining contemporary cytogenetic methods with DNA CGH microarray technology and chromosome flow-sorting increases substantially the ability to resolve exchange breakpoints associated with interstitial deletions and translocations, allowing the consequences of radiation damage to be directly measured at low doses, while also providing valuable insights into molecular mechanisms of misrepair processes that, in turn, identify appropriate biophysical models of risk at low doses. The aims of this work apply to cells recovered from 3D tissue constructs of human skin and, for the purpose of comparison, the same cells irradiated in traditional 2D cultures. These aims are: to analyze by multi-flour fluorescence in situ hybridization (mFISH) the chromosomes in clonal descendents of individual human fibroblasts that were previously irradiated; to examine irradiated clones from Aim 1 for submicroscopic deletions by subjecting their DNA to comparative genomic hybridization (CGH) microarray analysis; and to flow-sort aberrant chromosomes from clones containing stable radiation-induced translocations and map the breakpoints to within an average resolution of 100 kb using the technique of 'array painting'.

Heritable Genetic Changes in Cells Recovered From Irradiated 3D Tissue Contracts. Final report

International Nuclear Information System (INIS)

Cornforth, Michael N.

2013-01-01

Combining contemporary cytogenetic methods with DNA CGH microarray technology and chromosome flow-sorting increases substantially the ability to resolve exchange breakpoints associated with interstitial deletions and translocations, allowing the consequences of radiation damage to be directly measured at low doses, while also providing valuable insights into molecular mechanisms of misrepair processes that, in turn, identify appropriate biophysical models of risk at low doses. The aims of this work apply to cells recovered from 3D tissue constructs of human skin and, for the purpose of comparison, the same cells irradiated in traditional 2D cultures. These aims are: to analyze by multi-flour fluorescence in situ hybridization (mFISH) the chromosomes in clonal descendents of individual human fibroblasts that were previously irradiated; to examine irradiated clones from Aim 1 for submicroscopic deletions by subjecting their DNA to comparative genomic hybridization (CGH) microarray analysis; and to flow-sort aberrant chromosomes from clones containing stable radiation-induced translocations and map the breakpoints to within an average resolution of 100 kb using the technique of 'array painting'

Analysis of LH Launcher Arrays (Like the ITER One) Using the TOPLHA Code

International Nuclear Information System (INIS)

Maggiora, R.; Milanesio, D.; Vecchi, G.

2009-01-01

TOPLHA (Torino Polytechnic Lower Hybrid Antenna) code is an innovative tool for the 3D/1D simulation of Lower Hybrid (LH) antennas, i.e. accounting for realistic 3D waveguides geometry and for accurate 1D plasma models, and without restrictions on waveguide shape, including curvature. This tool provides a detailed performances prediction of any LH launcher, by computing the antenna scattering parameters, the current distribution, electric field maps and power spectra for any user-specified waveguide excitation. In addition, a fully parallelized and multi-cavity version of TOPLHA permits the analysis of large and complex waveguide arrays in a reasonable simulation time. A detailed analysis of the performances of the proposed ITER LH antenna geometry has been carried out, underlining the strong dependence of the antenna input parameters with respect to plasma conditions. A preliminary optimization of the antenna dimensions has also been accomplished. Electric current distribution on conductors, electric field distribution at the interface with plasma, and power spectra have been calculated as well. The analysis shows the strong capabilities of the TOPLHA code as a predictive tool and its usefulness to LH launcher arrays detailed design.

Duplication of 7q36.3 encompassing the Sonic Hedgehog (SHH) gene is associated with congenital muscular hypertrophy

DEFF Research Database (Denmark)

Kristensen, Lone Krøldrup; Kjaergaard, S; Kirchhoff, Marianne

2012-01-01

with muscular hypertrophy and mildly retarded psychomotor development. Array-CGH identified a small duplication of 7q36.3 including the Sonic Hedgehog (SHH) gene in both the aborted foetus and the live born male sib. Neither of the parents carried the 7q36.3 duplication. The consequences of overexpression...

Detachably assembled microfluidic device for perfusion culture and post-culture analysis of a spheroid array.

Science.gov (United States)

Sakai, Yusuke; Hattori, Koji; Yanagawa, Fumiki; Sugiura, Shinji; Kanamori, Toshiyuki; Nakazawa, Kohji

2014-07-01

Microfluidic devices permit perfusion culture of three-dimensional (3D) tissue, mimicking the flow of blood in vascularized 3D tissue in our body. Here, we report a microfluidic device composed of a two-part microfluidic chamber chip and multi-microwell array chip able to be disassembled at the culture endpoint. Within the microfluidic chamber, an array of 3D tissue aggregates (spheroids) can be formed and cultured under perfusion. Subsequently, detailed post-culture analysis of the spheroids collected from the disassembled device can be performed. This device facilitates uniform spheroid formation, growth analysis in a high-throughput format, controlled proliferation via perfusion flow rate, and post-culture analysis of spheroids. We used the device to culture spheroids of human hepatocellular carcinoma (HepG2) cells under two controlled perfusion flow rates. HepG2 spheroids exhibited greater cell growth at higher perfusion flow rates than at lower perfusion flow rates, and exhibited different metabolic activity and mRNA and protein expression under the different flow rate conditions. These results show the potential of perfusion culture to precisely control the culture environment in microfluidic devices. The construction of spheroid array chambers allows multiple culture conditions to be tested simultaneously, with potential applications in toxicity and drug screening. Copyright © 2014 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Genovar: a detection and visualization tool for genomic variants.

Science.gov (United States)

Jung, Kwang Su; Moon, Sanghoon; Kim, Young Jin; Kim, Bong-Jo; Park, Kiejung

2012-05-08

Along with single nucleotide polymorphisms (SNPs), copy number variation (CNV) is considered an important source of genetic variation associated with disease susceptibility. Despite the importance of CNV, the tools currently available for its analysis often produce false positive results due to limitations such as low resolution of array platforms, platform specificity, and the type of CNV. To resolve this problem, spurious signals must be separated from true signals by visual inspection. None of the previously reported CNV analysis tools support this function and the simultaneous visualization of comparative genomic hybridization arrays (aCGH) and sequence alignment. The purpose of the present study was to develop a useful program for the efficient detection and visualization of CNV regions that enables the manual exclusion of erroneous signals. A JAVA-based stand-alone program called Genovar was developed. To ascertain whether a detected CNV region is a novel variant, Genovar compares the detected CNV regions with previously reported CNV regions using the Database of Genomic Variants (DGV, http://projects.tcag.ca/variation) and the Single Nucleotide Polymorphism Database (dbSNP). The current version of Genovar is capable of visualizing genomic data from sources such as the aCGH data file and sequence alignment format files. Genovar is freely accessible and provides a user-friendly graphic user interface (GUI) to facilitate the detection of CNV regions. The program also provides comprehensive information to help in the elimination of spurious signals by visual inspection, making Genovar a valuable tool for reducing false positive CNV results. http://genovar.sourceforge.net/.

Array capabilities and future arrays

International Nuclear Information System (INIS)

Radford, D.

1993-01-01

Early results from the new third-generation instruments GAMMASPHERE and EUROGAM are confirming the expectation that such arrays will have a revolutionary effect on the field of high-spin nuclear structure. When completed, GAMMASHPERE will have a resolving power am order of magnitude greater that of the best second-generation arrays. When combined with other instruments such as particle-detector arrays and fragment mass analysers, the capabilites of the arrays for the study of more exotic nuclei will be further enhanced. In order to better understand the limitations of these instruments, and to design improved future detector systems, it is important to have some intelligible and reliable calculation for the relative resolving power of different instrument designs. The derivation of such a figure of merit will be briefly presented, and the relative sensitivities of arrays currently proposed or under construction presented. The design of TRIGAM, a new third-generation array proposed for Chalk River, will also be discussed. It is instructive to consider how far arrays of Compton-suppressed Ge detectors could be taken. For example, it will be shown that an idealised open-quote perfectclose quotes third-generation array of 1000 detectors has a sensitivity an order of magnitude higher again than that of GAMMASPHERE. Less conventional options for new arrays will also be explored

Clinical utility of an array comparative genomic hybridization analysis for Williams syndrome.

Science.gov (United States)

Yagihashi, Tatsuhiko; Torii, Chiharu; Takahashi, Reiko; Omori, Mikimasa; Kosaki, Rika; Yoshihashi, Hiroshi; Ihara, Masahiro; Minagawa-Kawai, Yasuyo; Yamamoto, Junichi; Takahashi, Takao; Kosaki, Kenjiro

2014-11-01

To reveal the relation between intellectual disability and the deleted intervals in Williams syndrome, we performed an array comparative genomic hybridization analysis and standardized developmental testing for 11 patients diagnosed as having Williams syndrome based on fluorescent in situ hybridization testing. One patient had a large 4.2-Mb deletion spanning distally beyond the common 1.5-Mb intervals observed in 10/11 patients. We formulated a linear equation describing the developmental age of the 10 patients with the common deletion; the developmental age of the patient with the 4.2-Mb deletion was significantly below the expectation (developmental age = 0.51 × chronological age). The large deletion may account for the severe intellectual disability; therefore, the use of array comparative genomic hybridization may provide practical information regarding individuals with Williams syndrome. © 2014 Japanese Teratology Society.

An analysis of seismic background noise variation and evaluation of detection capability of Keskin Array (BRTR PS-43) in Turkey

Science.gov (United States)

Bakir, M. E.; Ozel, N. M.; Semin, K. U.

2011-12-01

Bogazici University, Kandilli Observatory and Earthquake Research Institute (KOERI) is currently operating the Keskin seismic array (BRTR-PS 43) located in town Keskin, providing real-time data to IDC. The instrumentaion of seismic array includes six short period borehole seismometers and one broadband borehole seismometer. The seismic background noise variation of Keskin array are studied in order to estimate the local and regional event detection capability in the frequency range from 1 Hz to 10 Hz. The Power density spectrum and also probability density function of Keskin array data were computed for seasonal and diurnal noise variations between 2008 and 2010. The computation will be extended to cover the period between 2005 and 2008. We attempt to determine the precise frequency characteristics of the background noise, which will help us to assess the station sensitivity. Minimum detectable magnitude versus distance for Keskin seismic array will be analyzed based on the seismic noise analysis. Detailed analysis results of seismic background noise and detection capability will be presented by this research.

Second-order Data by Flow Injection Analysis with Spectrophotometric Diode-array Detection and Incorporated Gel-filtration Chromatographic Column

DEFF Research Database (Denmark)

Bechmann, Iben Ellegaard

1997-01-01

A flow injection analysis (FIA) system furnished with a gel-filtration chromatographic column and with photodiode-array detection was used for the generation of second-order data. The system presented is a model system in which the analytes are blue dextran, potassium hexacyanoferrate(III) and he......A flow injection analysis (FIA) system furnished with a gel-filtration chromatographic column and with photodiode-array detection was used for the generation of second-order data. The system presented is a model system in which the analytes are blue dextran, potassium hexacyanoferrate...

Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization

Directory of Open Access Journals (Sweden)

Oikawa Masahiro

2011-12-01

Full Text Available Abstract Background It has been postulated that ionizing radiation induces breast cancers among atomic bomb (A-bomb survivors. We have reported a higher incidence of HER2 and C-MYC oncogene amplification in breast cancers from A-bomb survivors. The purpose of this study was to clarify the effect of A-bomb radiation exposure on genomic instability (GIN, which is an important hallmark of carcinogenesis, in archival formalin-fixed paraffin-embedded (FFPE tissues of breast cancer by using microarray-comparative genomic hybridization (aCGH. Methods Tumor DNA was extracted from FFPE tissues of invasive ductal cancers from 15 survivors who were exposed at 1.5 km or less from the hypocenter and 13 calendar year-matched non-exposed patients followed by aCGH analysis using a high-density oligonucleotide microarray. The total length of copy number aberrations (CNA was used as an indicator of GIN, and correlation with clinicopathological factors were statistically tested. Results The mean of the derivative log ratio spread (DLRSpread, which estimates the noise by calculating the spread of log ratio differences between consecutive probes for all chromosomes, was 0.54 (range, 0.26 to 1.05. The concordance of results between aCGH and fluorescence in situ hybridization (FISH for HER2 gene amplification was 88%. The incidence of HER2 amplification and histological grade was significantly higher in the A-bomb survivors than control group (P = 0.04, respectively. The total length of CNA tended to be larger in the A-bomb survivors (P = 0.15. Correlation analysis of CNA and clinicopathological factors revealed that DLRSpread was negatively correlated with that significantly (P = 0.034, r = -0.40. Multivariate analysis with covariance revealed that the exposure to A-bomb was a significant (P = 0.005 independent factor which was associated with larger total length of CNA of breast cancers. Conclusions Thus, archival FFPE tissues from A-bomb survivors are useful for

Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization

International Nuclear Information System (INIS)

Oikawa, Masahiro; Yoshiura, Koh-ichiro; Kondo, Hisayoshi; Miura, Shiro; Nagayasu, Takeshi; Nakashima, Masahiro

2011-01-01

It has been postulated that ionizing radiation induces breast cancers among atomic bomb (A-bomb) survivors. We have reported a higher incidence of HER2 and C-MYC oncogene amplification in breast cancers from A-bomb survivors. The purpose of this study was to clarify the effect of A-bomb radiation exposure on genomic instability (GIN), which is an important hallmark of carcinogenesis, in archival formalin-fixed paraffin-embedded (FFPE) tissues of breast cancer by using microarray-comparative genomic hybridization (aCGH). Tumor DNA was extracted from FFPE tissues of invasive ductal cancers from 15 survivors who were exposed at 1.5 km or less from the hypocenter and 13 calendar year-matched non-exposed patients followed by aCGH analysis using a high-density oligonucleotide microarray. The total length of copy number aberrations (CNA) was used as an indicator of GIN, and correlation with clinicopathological factors were statistically tested. The mean of the derivative log ratio spread (DLRSpread), which estimates the noise by calculating the spread of log ratio differences between consecutive probes for all chromosomes, was 0.54 (range, 0.26 to 1.05). The concordance of results between aCGH and fluorescence in situ hybridization (FISH) for HER2 gene amplification was 88%. The incidence of HER2 amplification and histological grade was significantly higher in the A-bomb survivors than control group (P = 0.04, respectively). The total length of CNA tended to be larger in the A-bomb survivors (P = 0.15). Correlation analysis of CNA and clinicopathological factors revealed that DLRSpread was negatively correlated with that significantly (P = 0.034, r = -0.40). Multivariate analysis with covariance revealed that the exposure to A-bomb was a significant (P = 0.005) independent factor which was associated with larger total length of CNA of breast cancers. Thus, archival FFPE tissues from A-bomb survivors are useful for genome-wide aCGH analysis. Our results suggested that A

Significance of genomic instability in breast cancer in atomic bomb survivors: analysis of microarray-comparative genomic hybridization.

Science.gov (United States)

Oikawa, Masahiro; Yoshiura, Koh-ichiro; Kondo, Hisayoshi; Miura, Shiro; Nagayasu, Takeshi; Nakashima, Masahiro

2011-12-07

It has been postulated that ionizing radiation induces breast cancers among atomic bomb (A-bomb) survivors. We have reported a higher incidence of HER2 and C-MYC oncogene amplification in breast cancers from A-bomb survivors. The purpose of this study was to clarify the effect of A-bomb radiation exposure on genomic instability (GIN), which is an important hallmark of carcinogenesis, in archival formalin-fixed paraffin-embedded (FFPE) tissues of breast cancer by using microarray-comparative genomic hybridization (aCGH). Tumor DNA was extracted from FFPE tissues of invasive ductal cancers from 15 survivors who were exposed at 1.5 km or less from the hypocenter and 13 calendar year-matched non-exposed patients followed by aCGH analysis using a high-density oligonucleotide microarray. The total length of copy number aberrations (CNA) was used as an indicator of GIN, and correlation with clinicopathological factors were statistically tested. The mean of the derivative log ratio spread (DLRSpread), which estimates the noise by calculating the spread of log ratio differences between consecutive probes for all chromosomes, was 0.54 (range, 0.26 to 1.05). The concordance of results between aCGH and fluorescence in situ hybridization (FISH) for HER2 gene amplification was 88%. The incidence of HER2 amplification and histological grade was significantly higher in the A-bomb survivors than control group (P = 0.04, respectively). The total length of CNA tended to be larger in the A-bomb survivors (P = 0.15). Correlation analysis of CNA and clinicopathological factors revealed that DLRSpread was negatively correlated with that significantly (P = 0.034, r = -0.40). Multivariate analysis with covariance revealed that the exposure to A-bomb was a significant (P = 0.005) independent factor which was associated with larger total length of CNA of breast cancers. Thus, archival FFPE tissues from A-bomb survivors are useful for genome-wide aCGH analysis. Our results suggested that A

Adaptive Injection-locking Oscillator Array for RF Spectrum Analysis

International Nuclear Information System (INIS)

Leung, Daniel

2011-01-01

A highly parallel radio frequency receiver using an array of injection-locking oscillators for on-chip, rapid estimation of signal amplitudes and frequencies is considered. The oscillators are tuned to different natural frequencies, and variable gain amplifiers are used to provide negative feedback to adapt the locking band-width with the input signal to yield a combined measure of input signal amplitude and frequency detuning. To further this effort, an array of 16 two-stage differential ring oscillators and 16 Gilbert-cell mixers is designed for 40-400 MHz operation. The injection-locking oscillator array is assembled on a custom printed-circuit board. Control and calibration is achieved by on-board microcontroller.

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects

NARCIS (Netherlands)

Bauters, M.; Frints, S.G.; Esch, H. van; Spruijt, L.; Baldewijns, M.M.; Die-Smulders, C.E.M. de; Fryns, J.P.; Marynen, P.; Froyen, G.

2014-01-01

Genomic duplications of varying lengths at Xq26-q27 involving SOX3 have been described in families with X-linked hypopituitarism. Using array-CGH we detected a 1.1 Mb microduplication at Xq27 in a large family with three males suffering from X-linked hypopituitarism. The duplication was mapped from

Prognostic impact of array-based genomic profiles in esophageal squamous cell cancer

DEFF Research Database (Denmark)

Carneiro, Ana; Isinger, Anna; Karlsson, Anna

2008-01-01

BACKGROUND: Esophageal squamous cell carcinoma (ESCC) is a genetically complex tumor type and a major cause of cancer related mortality. Although distinct genetic alterations have been linked to ESCC development and prognosis, the genetic alterations have not gained clinical applicability. We...... interdependent alterations and deranged pathways were identified and copy number changes were correlated to stage, differentiation and survival. RESULTS: Copy number alterations affected median 19% of the genome and included recurrent gains of chromosome regions 5p, 7p, 7q, 8q, 10q, 11q, 12p, 14q, 16p, 17p, 19p......p13.3 independently predicted poor survival in multivariate analysis. CONCLUSION: aCGH profiling verified genetic complexity in ESCC and herein identified imbalances of multiple central tumorigenic pathways. Distinct gains correlate with clinicopathological variables and independently predict...

Array coding for large data memories

Science.gov (United States)

Tranter, W. H.

1982-01-01

It is pointed out that an array code is a convenient method for storing large quantities of data. In a typical application, the array consists of N data words having M symbols in each word. The probability of undetected error is considered, taking into account three symbol error probabilities which are of interest, and a formula for determining the probability of undetected error. Attention is given to the possibility of reading data into the array using a digital communication system with symbol error probability p. Two different schemes are found to be of interest. The conducted analysis of array coding shows that the probability of undetected error is very small even for relatively large arrays.

Wolf-Hirschhorn (4p-) syndrome: prenatal diagnosis, molecular cytogenetic characterization and association with a 1.2-Mb microduplication at 8p22-p21.3 and a 1.1-Mb microduplication at 10p15.3 in a fetus with an apparently pure 4p deletion.

Science.gov (United States)

Chen, Chih-Ping; Su, Yi-Ning; Chen, Yi-Yung; Su, Jun-Wei; Chern, Schu-Rern; Chen, Yu-Ting; Chen, Wen-Lin; Chen, Li-Feng; Wang, Wayseen

2011-12-01

To present prenatal diagnosis and molecular cytogenetic characterization of Wolf-Hirschhorn syndrome (WHS) associated with microduplications at 8p and 10p in a fetus with an apparently pure 4p deletion. A 35-year-old gravida 2, para 1 woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age. Her husband was 38 years of age. There was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(4p16.1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis revealed a 6.5-Mb deletion at 4p16.3-p16.1, a 1.2-Mb microduplication at 8p22-p21.3, and a 1.1-Mb microduplication at 10p15.3, or arr cgh 4p16.3p16.1 (0-6,531,998 bp)×1, 8p22p21.3 (18,705,388-19,940,445 bp)×3, 10p15.3 (0-1,105,065 bp)×3. Polymorphic DNA marker analysis confirmed a paternal origin of 4p deletion. Prenatal ultrasound revealed facial dysmorphism and hypospadias. The aCGH analysis of the parents revealed no genomic imbalance. Fluorescence in situ hybridization study showed an unbalanced reciprocal translocation between chromosomes 4 and 10 at bands 4p16.1 and 10p15.3. The cytogenetic result, thus, was 46,XY,der(4)t(4;10)(p16.1;p15.3),dup(8)(p21.3p22). The parents elected to terminate the pregnancy, and a 470-g malformed fetus was delivered. The present case provides evidence that an apparently pure 4p deletion can be associated with subtle chromosome imbalances in other chromosomes. Copyright © 2011. Published by Elsevier B.V.

Probe suppression in conformal phased array

CERN Document Server

Singh, Hema; Neethu, P S

2017-01-01

This book considers a cylindrical phased array with microstrip patch antenna elements and half-wavelength dipole antenna elements. The effect of platform and mutual coupling effect is included in the analysis. The non-planar geometry is tackled by using Euler's transformation towards the calculation of array manifold. Results are presented for both conducting and dielectric cylinder. The optimal weights obtained are used to generate adapted pattern according to a given signal scenario. It is shown that array along with adaptive algorithm is able to cater to an arbitrary signal environment even when the platform effect and mutual coupling is taken into account. This book provides a step-by-step approach for analyzing the probe suppression in non-planar geometry. Its detailed illustrations and analysis will be a useful text for graduate and research students, scientists and engineers working in the area of phased arrays, low-observables and stealth technology.

Scattering Analysis of a Compact Dipole Array with Series and Parallel Feed Network including Mutual Coupling Effect

Directory of Open Access Journals (Sweden)

H. L. Sneha

2013-01-01

Full Text Available The current focus in defense arena is towards the stealth technology with an emphasis to control the radar cross-section (RCS. The scattering from the antennas mounted over the platform is of prime importance especially for a low-observable aerospace vehicle. This paper presents the analysis of the scattering cross section of a uniformly spaced linear dipole array. Two types of feed networks, that is, series and parallel feed networks, are considered. The total RCS of phased array with either kind of feed network is obtained by following the signal as it enters through the aperture and travels through the feed network. The RCS estimation of array is done including the mutual coupling effect between the dipole elements in three configurations, that is, side-by-side, collinear, and parallel-in-echelon. The results presented can be useful while designing a phased array with optimum performance towards low observability.

Dynamical analysis of surface-insulated planar wire array Z-pinches

Science.gov (United States)

Li, Yang; Sheng, Liang; Hei, Dongwei; Li, Xingwen; Zhang, Jinhai; Li, Mo; Qiu, Aici

2018-05-01

The ablation and implosion dynamics of planar wire array Z-pinches with and without surface insulation are compared and discussed in this paper. This paper first presents a phenomenological model named the ablation and cascade snowplow implosion (ACSI) model, which accounts for the ablation and implosion phases of a planar wire array Z-pinch in a single simulation. The comparison between experimental data and simulation results shows that the ACSI model could give a fairly good description about the dynamical characteristics of planar wire array Z-pinches. Surface insulation introduces notable differences in the ablation phase of planar wire array Z-pinches. The ablation phase is divided into two stages: insulation layer ablation and tungsten wire ablation. The two-stage ablation process of insulated wires is simulated in the ACSI model by updating the formulas describing the ablation process.

AnovArray: a set of SAS macros for the analysis of variance of gene expression data

Directory of Open Access Journals (Sweden)

Renard Jean-Paul

2005-06-01

Full Text Available Abstract Background Analysis of variance is a powerful approach to identify differentially expressed genes in a complex experimental design for microarray and macroarray data. The advantage of the anova model is the possibility to evaluate multiple sources of variation in an experiment. Results AnovArray is a package implementing ANOVA for gene expression data using SAS® statistical software. The originality of the package is 1 to quantify the different sources of variation on all genes together, 2 to provide a quality control of the model, 3 to propose two models for a gene's variance estimation and to perform a correction for multiple comparisons. Conclusion AnovArray is freely available at http://www-mig.jouy.inra.fr/stat/AnovArray and requires only SAS® statistical software.

Terabyte IDE RAID-5 Disk Arrays

Energy Technology Data Exchange (ETDEWEB)

David A. Sanders et al.

2003-09-30

High energy physics experiments are currently recording large amounts of data and in a few years will be recording prodigious quantities of data. New methods must be developed to handle this data and make analysis at universities possible. We examine some techniques that exploit recent developments in commodity hardware. We report on tests of redundant arrays of integrated drive electronics (IDE) disk drives for use in offline high energy physics data analysis. IDE redundant array of inexpensive disks (RAID) prices now are less than the cost per terabyte of million-dollar tape robots! The arrays can be scaled to sizes affordable to institutions without robots and used when fast random access at low cost is important.

Efficient Full-Wave Analysis of Waveguide Arrays on Cylindrical Surfaces.

NARCIS (Netherlands)

Gerini, G.; Guglielmi, M.; Rozzi, T.; Zappelli, L.

1999-01-01

Conformal open-ended waveguide arrays received great attention in the early seventies. Recently, dielectric loaded waveguide radiators have been again proposed to achieve high dety microwave packaging [1], [2]. The efficient design of highly integrated array solutions, however, require fast and

Hybrid Arrays for Chemical Sensing

Science.gov (United States)

Kramer, Kirsten E.; Rose-Pehrsson, Susan L.; Johnson, Kevin J.; Minor, Christian P.

In recent years, multisensory approaches to environment monitoring for chemical detection as well as other forms of situational awareness have become increasingly popular. A hybrid sensor is a multimodal system that incorporates several sensing elements and thus produces data that are multivariate in nature and may be significantly increased in complexity compared to data provided by single-sensor systems. Though a hybrid sensor is itself an array, hybrid sensors are often organized into more complex sensing systems through an assortment of network topologies. Part of the reason for the shift to hybrid sensors is due to advancements in sensor technology and computational power available for processing larger amounts of data. There is also ample evidence to support the claim that a multivariate analytical approach is generally superior to univariate measurements because it provides additional redundant and complementary information (Hall, D. L.; Linas, J., Eds., Handbook of Multisensor Data Fusion, CRC, Boca Raton, FL, 2001). However, the benefits of a multisensory approach are not automatically achieved. Interpretation of data from hybrid arrays of sensors requires the analyst to develop an application-specific methodology to optimally fuse the disparate sources of data generated by the hybrid array into useful information characterizing the sample or environment being observed. Consequently, multivariate data analysis techniques such as those employed in the field of chemometrics have become more important in analyzing sensor array data. Depending on the nature of the acquired data, a number of chemometric algorithms may prove useful in the analysis and interpretation of data from hybrid sensor arrays. It is important to note, however, that the challenges posed by the analysis of hybrid sensor array data are not unique to the field of chemical sensing. Applications in electrical and process engineering, remote sensing, medicine, and of course, artificial

Thermal analysis for folded solar array of spacecraft in orbit

International Nuclear Information System (INIS)

Yang, W.H.; Cheng, H.E.; Cai, A.

2004-01-01

The combined radiation-conduction heat transfer in folded solar array was considered as a three-dimensional anisotropic conduction without inner heat source. The three-dimensional equivalent conductivity in cell plate were obtained. The especially discrete equation coefficients of the nodes on the surfaces of adjacent cell plates were deduced by utilizing the simplified radiation network among the two adjacent cell plate surfaces and the deep cold space. All the thermal influence factors on the temperature response of the folded solar array were considered carefully. SIP method was used to solve the discrete equation. By comparing the calculation results under three cases, the temperature response and the maximum average difference of the folded solar array was obtained during the period of throw-radome of the launch vehicle and spread of the folded solar array. The obtained result is a valuable reference for the selection of the launch time of the spacecraft

Four Copies of SNCA Responsible for Autosomal Dominant Parkinson’s Disease in Two Italian Siblings

Directory of Open Access Journals (Sweden)

Rosangela Ferese

2015-01-01

Full Text Available Background. Parkinson’s disease (PD is mostly characterized by alpha-synuclein (SNCA aggregation and loss of nigrostriatal dopamine-containing neurons. In this study a novel SNCA multiplication is described in two siblings affected by severe parkinsonism featuring early onset dyskinesia, psychiatric symptoms, and cognitive deterioration. Methods. SNCA dosage was performed using High-Density Comparative Genomic Hybridization Array (CGH-Array, Multiple Ligation Dependent Probe Amplification (MLPA, and Quantitative PCR (qPCR. Genetic analysis was associated with clinical evaluation. Results. Genetic analysis of siblings showed for the first time a 351 Kb triplication containing SNCA gene along with 6 exons of MMRN1 gene in 4q22.1 and a duplication of 1,29 Mb of a genomic region flanking the triplication. Conclusions. The identification of this family indicates a novel mechanism of SNCA gene multiplication, which confirms the genomic instability in this region and provides data on the genotype-phenotype correlation in PD patients.

Analysis of O-glycans as 9-fluorenylmethyl derivatives and its application to the studies on glycan array.

Science.gov (United States)

Yamada, Keita; Hirabayashi, Jun; Kakehi, Kazuaki

2013-03-19

A method is proposed for the analysis of O-glycans as 9-fluorenylmethyl (Fmoc) derivatives. After releasing the O-glycans from the protein backbone in the presence of ammonia-based media, the glycosylamines thus formed are conveniently labeled with Fmoc-Cl and analyzed by HPLC and MALDI-TOF MS after easy purification. Fmoc labeled O-glycans showed 3.5 times higher sensitivities than those labeled with 2-aminobenzoic acid in fluorescent detection. Various types of O-glycans having sialic acids, fucose, and/or sulfate residues were successfully labeled with Fmoc and analyzed by HPLC and MALDI-TOF MS. The method was applied to the comprehensive analysis of O-glycans expressed on MKN45 cells (human gastric adenocarcinoma). In addition, Fmoc-derivatized O-glycans were easily converted to free hemiacetal or glycosylamine-form glycans that are available for fabrication of glycan array and neoglycoproteins. To demonstrate the availability of our methods, we fabricate the glycan array with Fmoc labeled glycans derived from mucin samples and cancer cells. The model studies using the glycan array showed clear interactions between immobilized glycans and some lectins.

Analysis of mean time to data loss of fault-tolerant disk arrays RAID-6 based on specialized Markov chain

Science.gov (United States)

Rahman, P. A.; D'K Novikova Freyre Shavier, G.

2018-03-01

This scientific paper is devoted to the analysis of the mean time to data loss of redundant disk arrays RAID-6 with alternation of data considering different failure rates of disks both in normal state of the disk array and in degraded and rebuild states, and also nonzero time of the disk replacement. The reliability model developed by the authors on the basis of the Markov chain and obtained calculation formula for estimation of the mean time to data loss (MTTDL) of the RAID-6 disk arrays are also presented. At last, the technique of estimation of the initial reliability parameters and examples of calculation of the MTTDL of the RAID-6 disk arrays for the different numbers of disks are also given.

Ceramic ball grid array package stress analysis

Science.gov (United States)

Badri, S. H. B. S.; Aziz, M. H. A.; Ong, N. R.; Sauli, Z.; Alcain, J. B.; Retnasamy, V.

2017-09-01

The ball grid array (BGA), a form of chip scale package (CSP), was developed as one of the most advanced surface mount devices, which may be assembled by an ordinary surface ball bumps are used instead of plated nickel and gold (Ni/Au) bumps. Assembly and reliability of the BGA's printed circuit board (PCB), which is soldered by conventional surface mount technology is considered in this study. The Ceramic Ball Grid Array (CBGA) is a rectangular ceramic package or square-shaped that will use the solder ball for external electrical connections instead of leads or wire for connections. The solder balls will be arranged in an array or grid at the bottom of the ceramic package body. In this study, ANSYS software is used to investigate the stress on the package for 2 balls and 4 balls of the CBGA package with the various force range of 1-3 Newton applied to the top of the die, top of the substrate and side of the substrate. The highest maximum stress was analyzed and the maximum equivalent stress was observed on the solder ball and the die. From the simulation result, the CBGA package with less solder balls experience higher stress compared to the package with many solder balls. Therefore, less number of solder ball on the CBGA package results higher stress and critically affect the reliability of the solder balls itself, substrate and die which can lead to the solder crack and also die crack.

Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly

NARCIS (Netherlands)

Grotto, S.; Drouin-Garraud, V.; Ounap, K.; Puusepp-Benazzouz, H.; Schuurs-Hoeijmakers, J.H.; Meur, N. Le; Chambon, P.; Fehrenbach, S.; Bokhoven, H. van; Frebourg, T.; Brouwer, A.P.M. de; Saugier-Veber, P.

2014-01-01

Truncating mutations of the BRWD3 gene have been reported in two distinct families with in total four patients so far. By using array-CGH, we detected a 74 Kb de novo deletion encompassing exons 11 through 41 of BRWD3 at Xq21.1 in a 20 year old boy presenting with syndromic intellectual disability.

GENE ARRAY ANALYSIS OF THE VENTRAL PROSTATE IN RATS EXPOSED TO EITHER VINCLOZOLIN OR PROCYMIDONE

Science.gov (United States)

GENE ARRAY ANALYSIS OF THE VENTRAL PROSTATE IN RATS EXPOSED TO EITHER VINCLOZOLIN OR PROCYMIDONE. MB Rosen, VS Wilson, JE Schmid, and LE Gray Jr. US EPA, ORD, NHEERL, RTP, NC.Vinclozolin (Vi) and procymidone (Pr) are antiandrogenic fungicides. While changes in gene expr...

Chromosome 2 short arm translocations revealed by M-FISH analysis of neuroblastoma cell lines.

Science.gov (United States)

Van Roy, N; Van Limbergen, H; Vandesompele, J; Van Gele, M; Poppe, B; Laureys, G; De Paepe, A; Speleman, F

2000-12-01

M-FISH analysis was performed on 18 neuroblastoma cell lines, which were previously studied with cytogenetic, standard FISH and CGH data. One of the most striking findings of this study was the detection of chromosome 2 short arm rearrangements in 61% of the investigated cell lines. These rearrangements resulted from translocations with various partner chromosomes. All translocations, except one were unbalanced, leading to the consistent gain of chromosome segment 2pter-p22. A cryptic balanced translocation t(2;4) was observed with a breakpoint located in the vicinity of MYCN in cell line NBL-S. Combination of M-FISH results together with cytogenetic, standard FISH and CGH data yielded the most comprehensive description of chromosome 2 short arm rearrangements, leading to a consistent gain of chromosome 2 short arm material. Copyright 2000 Wiley-Liss, Inc.

Lectin-Array Blotting.

Science.gov (United States)

Pazos, Raquel; Echevarria, Juan; Hernandez, Alvaro; Reichardt, Niels-Christian

2017-09-01

Aberrant protein glycosylation is a hallmark of cancer, infectious diseases, and autoimmune or neurodegenerative disorders. Unlocking the potential of glycans as disease markers will require rapid and unbiased glycoproteomics methods for glycan biomarker discovery. The present method is a facile and rapid protocol for qualitative analysis of protein glycosylation in complex biological mixtures. While traditional lectin arrays only provide an average signal for the glycans in the mixture, which is usually dominated by the most abundant proteins, our method provides individual lectin binding profiles for all proteins separated in the gel electrophoresis step. Proteins do not have to be excised from the gel for subsequent analysis via the lectin array but are transferred by contact diffusion from the gel to a glass slide presenting multiple copies of printed lectin arrays. Fluorescently marked glycoproteins are trapped by the printed lectins via specific carbohydrate-lectin interactions and after a washing step their binding profile with up to 20 lectin probes is analyzed with a fluorescent scanner. The method produces the equivalent of 20 lectin blots in a single experiment, giving detailed insight into the binding epitopes present in the fractionated proteins. © 2017 by John Wiley & Sons, Inc. Copyright © 2017 John Wiley & Sons, Inc.

Phased-array design for MST and ST radars

Science.gov (United States)

Ecklund, W. L.

1986-01-01

All of the existing radar systems fully dedicated to clear-air radar studies use some type of phased-array antennas. The effects of beam-steering techniques including feed networks and phase shifters; sidelobe control; ground-clutter suppression; low altitude coverage; arrays with integrated radiating elements and feed networks; analysis of coaxial-collinear antennas; use of arrays with multiple beams; and array testing and measure on structural design of the antenna are discussed.

Intraneural stimulation using wire-microelectrode arrays: analysis of force steps in recruitment curves

NARCIS (Netherlands)

Smit, J.P.A.; Rutten, Wim; Boom, H.B.K.

1996-01-01

In acute experiments on six Wistar rats, a wire-microelectrode array was inserted into the common peroneal nerve. A 5-channel array and a 24-channel array were available. Each electrode in the array was used to generate a twitch contraction force recruitment curve for the extensor digitorum longus

Wind loads on flat plate photovoltaic array fields

Science.gov (United States)

Miller, R. D.; Zimmerman, D. K.

1981-01-01

The results of an experimental analysis (boundary layer wind tunnel test) of the aerodynamic forces resulting from winds acting on flat plate photovoltaic arrays are presented. Local pressure coefficient distributions and normal force coefficients on the arrays are shown and compared to theoretical results. Parameters that were varied when determining the aerodynamic forces included tilt angle, array separation, ground clearance, protective wind barriers, and the effect of the wind velocity profile. Recommended design wind forces and pressures are presented, which envelop the test results for winds perpendicular to the array's longitudinal axis. This wind direction produces the maximum wind loads on the arrays except at the array edge where oblique winds produce larger edge pressure loads. The arrays located at the outer boundary of an array field have a protective influence on the interior arrays of the field. A significant decrease of the array wind loads were recorded in the wind tunnel test on array panels located behind a fence and/or interior to the array field compared to the arrays on the boundary and unprotected from the wind. The magnitude of this decrease was the same whether caused by a fence or upwind arrays.

Data in support of proteomic analysis of pneumococcal pediatric clinical isolates to construct a protein array

Directory of Open Access Journals (Sweden)

Alfonso Olaya-Abril

2016-03-01

Full Text Available Surface proteins play key roles in the interaction between cells and their environment, and in pathogenic microorganisms they are the best targets for drug or vaccine discovery and/or development. In addition, surface proteins can be the basis for serodiagnostic tools aiming at developing more affordable techniques for early diagnosis of infection in patients. We carried out a proteomic analysis of a collection of pediatric clinical isolates of Streptococcus pneumoniae, an important human pathogen responsible for more than 1.5 million child deaths worldwide. For that, cultured live bacterial cells were “shaved” with trypsin, and the recovered peptides were analyzed by LC/MS/MS. We selected 95 proteins to be produced as recombinant polypeptides, and printed them on an array. We probed the protein array with a collection of patient sera to define serodiagnostic antigens. The mass spectrometry proteomics data correspond to those published in [1] and have been deposited to the ProteomeXchange Consortium [2] via the PRIDE partner repository [3] with the dataset identifier http://www.ebi.ac.uk/pride/archive/projects/PXD001740. The protein array raw data are provided as supplemental material in this article. Keywords: Pneumococcus, Protein arrays, Proteomics, Diagnostics

ESPRIT And Uniform Linear Arrays

Science.gov (United States)

Roy, R. H.; Goldburg, M.; Ottersten, B. E.; Swindlehurst, A. L.; Viberg, M.; Kailath, T.

1989-11-01

Abstract ¬â€?ESPRIT is a recently developed and patented technique for high-resolution estimation of signal parameters. It exploits an invariance structure designed into the sensor array to achieve a reduction in computational requirements of many orders of magnitude over previous techniques such as MUSIC, Burg's MEM, and Capon's ML, and in addition achieves performance improvement as measured by parameter estimate error variance. It is also manifestly more robust with respect to sensor errors (e.g. gain, phase, and location errors) than other methods as well. Whereas ESPRIT only requires that the sensor array possess a single invariance best visualized by considering two identical but other-wise arbitrary arrays of sensors displaced (but not rotated) with respect to each other, many arrays currently in use in various applications are uniform linear arrays of identical sensor elements. Phased array radars are commonplace in high-resolution direction finding systems, and uniform tapped delay lines (i.e., constant rate A/D converters) are the rule rather than the exception in digital signal processing systems. Such arrays possess many invariances, and are amenable to other types of analysis, which is one of the main reasons such structures are so prevalent. Recent developments in high-resolution algorithms of the signal/noise subspace genre including total least squares (TLS) ESPRIT applied to uniform linear arrays are summarized. ESPRIT is also shown to be a generalization of the root-MUSIC algorithm (applicable only to the case of uniform linear arrays of omni-directional sensors and unimodular cisoids). Comparisons with various estimator bounds, including CramerRao bounds, are presented.

Automated flow quantification in valvular heart disease based on backscattered Doppler power analysis: implementation on matrix-array ultrasound imaging systems.

Science.gov (United States)

Buck, Thomas; Hwang, Shawn M; Plicht, Björn; Mucci, Ronald A; Hunold, Peter; Erbel, Raimund; Levine, Robert A

2008-06-01

Cardiac ultrasound imaging systems are limited in the noninvasive quantification of valvular regurgitation due to indirect measurements and inaccurate hemodynamic assumptions. We recently demonstrated that the principle of integration of backscattered acoustic Doppler power times velocity can be used for flow quantification in valvular regurgitation directly at the vena contracta of a regurgitant flow jet. We now aimed to accomplish implementation of automated Doppler power flow analysis software on a standard cardiac ultrasound system utilizing novel matrix-array transducer technology with detailed description of system requirements, components and software contributing to the system. This system based on a 3.5 MHz, matrix-array cardiac ultrasound scanner (Sonos 5500, Philips Medical Systems) was validated by means of comprehensive experimental signal generator trials, in vitro flow phantom trials and in vivo testing in 48 patients with mitral regurgitation of different severity and etiology using magnetic resonance imaging (MRI) for reference. All measurements displayed good correlation to the reference values, indicating successful implementation of automated Doppler power flow analysis on a matrix-array ultrasound imaging system. Systematic underestimation of effective regurgitant orifice areas >0.65 cm(2) and volumes >40 ml was found due to currently limited Doppler beam width that could be readily overcome by the use of new generation 2D matrix-array technology. Automated flow quantification in valvular heart disease based on backscattered Doppler power can be fully implemented on board a routinely used matrix-array ultrasound imaging systems. Such automated Doppler power flow analysis of valvular regurgitant flow directly, noninvasively, and user independent overcomes the practical limitations of current techniques.

Polar body array CGH for prediction of the status of the corresponding oocyte. Part II: technical aspects

NARCIS (Netherlands)

Magli, M. Cristina; Montag, Markus; Köster, Maria; Muzi, Luigi; Geraedts, Joep; Collins, John; Goossens, Veerle; Handyside, Alan H.; Harper, Joyce; Repping, Sjoerd; Schmutzler, Andreas; Vesela, Katerina; Gianaroli, Luca

2011-01-01

The purpose of this study was to assess the technical aspects related to polar body (PB) biopsy, which might have an influence on the results of the microarray comparative genomic hybridization analysis. Furthermore, a comparison was made between two biopsy methods (mechanical and laser). Biopsy of

Integrative analysis of copy number alteration and gene expression profiling in ovarian clear cell adenocarcinoma.

Science.gov (United States)

Sung, Chang Ohk; Choi, Chel Hun; Ko, Young-Hyeh; Ju, Hyunjeong; Choi, Yoon-La; Kim, Nyunsu; Kang, So Young; Ha, Sang Yun; Choi, Kyusam; Bae, Duk-Soo; Lee, Jeong-Won; Kim, Tae-Joong; Song, Sang Yong; Kim, Byoung-Gie

2013-05-01

Ovarian clear cell adenocarcinoma (Ov-CCA) is a distinctive subtype of ovarian epithelial carcinoma. In this study, we performed array comparative genomic hybridization (aCGH) and paired gene expression microarray of 19 fresh-frozen samples and conducted integrative analysis. For the copy number alterations, significantly amplified regions (false discovery rate [FDR] q genes demonstrating frequent copy number alterations (>25% of samples) that correlated with gene expression (FDR genes were mainly located on 8p11.21, 8p21.2-p21.3, 8q22.1, 8q24.3, 17q23.2-q23.3, 19p13.3, and 19p13.11. Among the regions, 8q24.3 was found to contain the most genes (30 of 94 genes) including PTK2. The 8q24.3 region was indicated as the most significant region, as supported by copy number, GISTIC, and integrative analysis. Pathway analysis using differentially expressed genes on 8q24.3 revealed several major nodes, including PTK2. In conclusion, we identified a set of 94 candidate genes with frequent copy number alterations that correlated with gene expression. Specific chromosomal alterations, such as the 8q24.3 gain containing PTK2, could be a therapeutic target in a subset of Ov-CCAs. Copyright © 2013. Published by Elsevier Inc.

Periventricular heterotopia in a boy with interstitial deletion of chromosome 4p.

Science.gov (United States)

Gawlik-Kuklinska, Katarzyna; Wierzba, Jolanta; Wozniak, Agnieszka; Iliszko, Mariola; Debiec-Rychter, Maria; Dubaniewicz-Wybieralska, Miroslawa; Limon, Janusz

2008-01-01

We report on a 4-year-old boy with a proximal interstitial deletion in the short arm of chromosome 4p with the karyotype 46,XY,del(4)(p14p15.32),inv(9)(p13q13). For a precise delineation of the deleted region, an array-based comparative genomic hybridization (a-CGH) analysis was performed. The proband's phenotype and cytogenetic findings are compared with previously reported cases with proximal 4p deletion syndrome. The syndrome is associated with normal growth, varying degrees of mental retardation, characteristic facial appearance and minor dysmorphic features. Additionally, our patient developed a seizure disorder due to abnormal neuronal migration, i.e., periventricular heterotopia.

Recurrent proximal 18p monosomy and 18q trisomy in a family due to a pericentric inversion.

Science.gov (United States)

Zamani, Ayse Gul; Acar, Aynur; Durakbasi-Dursun, Gul; Yildirim, M Selman; Ceylaner, Serdar; Tuncez, Ebru

2014-05-01

Here, we report on a family with pericentric inversion of chromosome 18 [inv(18)(p11.2q21)] and two recombinants with a duplication of q21 → qter and a deletion of p11.2 → pter regions in a four-generation family. This chromosomal abnormality was inherited in our first patient from the father, while it was transmitted to the second patient from the mother. Array-CGH analysis were used to better characterize duplicated and deleted chromosomal regions and showed no genomic copy number variation (CNV) differences between these two relatives. We discussed genotype-phenotype correlations including previously reported. © 2014 Wiley Periodicals, Inc.

SOX2, OTX2 and PAX6 analysis in subjects with anophthalmia and microphthalmia.

Science.gov (United States)

Mauri, Lucia; Franzoni, Alessandra; Scarcello, Manuela; Sala, Stefano; Garavelli, Livia; Modugno, Alessandra; Grammatico, Paola; Patrosso, Maria Cristina; Piozzi, Elena; Del Longo, Alessandra; Gesu, Giovanni P; Manfredini, Emanuela; Primignani, Paola; Damante, Giuseppe; Penco, Silvana

2015-02-01

Anophthalmia (A) and microphthalmia (M) are rare developmental anomalies that have significant effects on visual activity. In fraction of A/M subjects, single genetic defects have been identified as causative. In this study we analysed 65 Italian A/M patients, 21 of whom are syndromic, for mutations in SOX2, OTX2 and PAX6 genes. In syndromic patients the presence of genome imbalances through array CGH was also investigated. No mutations were found for OTX2 and PAX6 genes. Three causative SOX2 mutations were found in subjects with syndromic A. In a subject with syndromic signs and monolateral M, two de novo 6.26 Mb and 1.37 Mb deletions in 4q13.2q13.3 have been identified. A SOX2 missense (p.Ala161Ser) mutation was found in 1 out of 39 a subject with non-syndromic monolateral M. Alanine at position 161 is conserved along phylogeny and the p.Ala161Ser mutation is estimated pathogenic by in silico analysis. However, this mutation was also present in the unaffected patient's daughter. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Effect of wire shape on wire array discharge

International Nuclear Information System (INIS)

Shimomura, N.; Tanaka, Y.; Yushita, Y.; Nagata, M.; Teramoto, Y.; Katsuki, S.; Akiyama, H.

2001-01-01

Although considerable investigations have been reported on z-pinches to achieve nuclear fusion, little attention has been given from the point of view of how a wire array consisting of many parallel wires explodes. Instability existing in the wire array discharge has been shown. In this paper, the effect of wire shape in the wire array on unstable behavior of the wire array discharge is represented by numerical analysis. The claws on the wire formed in installation of wire may cause uniform current distribution on wire array. The effect of error of wire diameter in production is computed by Monte Carlo Method. (author)

Effect of wire shape on wire array discharge

Energy Technology Data Exchange (ETDEWEB)

Shimomura, N.; Tanaka, Y.; Yushita, Y.; Nagata, M. [University of Tokushima, Department of Electrical and Electronic Engineering, Tokushima (Japan); Teramoto, Y.; Katsuki, S.; Akiyama, H. [Kumamoto University, Department of Electrical and Computer Engineering, Kumamoto (Japan)

2001-09-01

Although considerable investigations have been reported on z-pinches to achieve nuclear fusion, little attention has been given from the point of view of how a wire array consisting of many parallel wires explodes. Instability existing in the wire array discharge has been shown. In this paper, the effect of wire shape in the wire array on unstable behavior of the wire array discharge is represented by numerical analysis. The claws on the wire formed in installation of wire may cause uniform current distribution on wire array. The effect of error of wire diameter in production is computed by Monte Carlo Method. (author)

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

Science.gov (United States)

Bernardo, Pia; Madia, Francesca; Santulli, Lia; Del Gaudio, Luigi; Caccavale, Carmela; Zara, Federico; Traverso, Monica; Cirillo, Mario; Striano, Salvatore; Coppola, Antonietta

2016-08-01

The widespread use of Array Comparative Genomic Hybridization (aCGH) technology has enabled the identification of several syndromes associated with copy number variants (CNVs) including the 17q21.31 microdeletion. The 17q21.31 microdeletion syndrome, also known as Koolen-de Vries syndrome, was first described in 2006 in individuals with intellectual disabilities and organ abnormalities. We report the clinical, instrumental, cytogenetic and molecular investigations of a boy admitted for epilepsy and intellectual disabilities. We carried out detailed analysis of the clinical phenotype of this patient and investigated the genetic basis by using aCGH. We identified a de novo microdeletion on chromosome 17q21.31, compatible with Koolen-de Vries syndrome. Our case shares some of the typical characteristics of the syndrome already described by other authors: delayed psychomotor development, primarily affecting the expressive language, dysmorphic facial features, and epilepsy. However the clinical outcome was not severe as the intellectual disabilities were moderate with good adaptive and functional behaviour. Epilepsy was easily controlled by a single drug, and he never needed surgery for organ abnormalities. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

Criticality safety of low-density storage arrays

International Nuclear Information System (INIS)

Bauer, T. H.; Nuclear Engineering Division

2005-01-01

This paper proposes a straightforward bounding method for the criticality safety analysis of fissionable materials configured into large arrays of standard containers. While criticality-safe storage limits have been well established for single containers, even under flooded conditions, it is also necessary to rule out any potential for criticality arising from neutronic interactions among multiple containers that might build up over long distances in a large array. Traditionally, the array problem has been approached by individual Monte Carlo analyses of explicit arrangements of single units and their surroundings. Deemphasizing specific configurations, the present technique takes advantage of low average density of fissionable material in typical storage arrays to separate neutron interactions that take place in the neutron's 'birth unit' from subsequent interactions in a dilute array. Numerous explicit Monte Carlo analyses show that array effects may be conservatively calculated by analyses that homogenize fissionable contents and depend only on the overall array shape, size, and reflective boundary

Criticality safety of low-density storage arrays

International Nuclear Information System (INIS)

Bauer, T.H.

1996-01-01

This paper proposes a straightforward bounding method for the criticality safety analysis of fissionable materials configured into large arrays of standard containers. While criticality-safe storage limits have been well established for single containers, even under flooded conditions, it is also necessary to rule out any potential for criticality arising from neutronic interactions among multiple containers that might build up over long distances in a large array. Traditionally, the array problem has been approached by individual Monte Carlo analyses of explicit arrangements of single units and their surroundings. Deemphasizing specific configurations, the present technique takes advantage of low average density of fissionable material in typical storage arrays to separate neutron interactions that take place in the neutron's open-quotes birth unitclose quotes from subsequent interactions in a dilute array. Numerous explicit Monte Carlo analyses show that array effects may be conservatively calculated by analyses that homogenize fissionable contents and depend only on the overall array shape, size, and reflective boundary

Adapting Controlled-source Coherence Analysis to Dense Array Data in Earthquake Seismology

Science.gov (United States)

Schwarz, B.; Sigloch, K.; Nissen-Meyer, T.

2017-12-01

Exploration seismology deals with highly coherent wave fields generated by repeatable controlled sources and recorded by dense receiver arrays, whose geometry is tailored to back-scattered energy normally neglected in earthquake seismology. Owing to these favorable conditions, stacking and coherence analysis are routinely employed to suppress incoherent noise and regularize the data, thereby strongly contributing to the success of subsequent processing steps, including migration for the imaging of back-scattering interfaces or waveform tomography for the inversion of velocity structure. Attempts have been made to utilize wave field coherence on the length scales of passive-source seismology, e.g. for the imaging of transition-zone discontinuities or the core-mantle-boundary using reflected precursors. Results are however often deteriorated due to the sparse station coverage and interference of faint back-scattered with transmitted phases. USArray sampled wave fields generated by earthquake sources at an unprecedented density and similar array deployments are ongoing or planned in Alaska, the Alps and Canada. This makes the local coherence of earthquake data an increasingly valuable resource to exploit.Building on the experience in controlled-source surveys, we aim to extend the well-established concept of beam-forming to the richer toolbox that is nowadays used in seismic exploration. We suggest adapted strategies for local data coherence analysis, where summation is performed with operators that extract the local slope and curvature of wave fronts emerging at the receiver array. Besides estimating wave front properties, we demonstrate that the inherent data summation can also be used to generate virtual station responses at intermediate locations where no actual deployment was performed. Owing to the fact that stacking acts as a directional filter, interfering coherent wave fields can be efficiently separated from each other by means of coherent subtraction. We

Two-Stage MAS Technique for Analysis of DRA Elements and Arrays on Finite Ground Planes

DEFF Research Database (Denmark)

Larsen, Niels Vesterdal; Breinbjerg, Olav

2007-01-01

A two-stage Method of Auxiliary Sources (MAS) technique is proposed for analysis of dielectric resonator antenna (DRA) elements and arrays on finite ground planes (FGPs). The problem is solved by first analysing the DRA on an infinite ground plane (IGP) and then using this solution to model the FGP...

Criticality safety of low-density storage arrays

International Nuclear Information System (INIS)

Bauer, T.H.

1996-01-01

This note proposes a straightforward and simple method for the criticality safety analysis of fissionable materials configured into large arrays of standard containers. While criticality-safe storage limits have been well-established for standard containers--even under flooded conditions, it is also necessary to rule out the potential for criticality arising from neutronic interactions among multiple containers that might build up over long distances in a large array. Traditionally, the array problem has been approached by individual Monte Carlo analyses of explicit arrangements of single units and their surroundings. Here, the authors show how multiple Monte Carlo analyses can be usefully combined for wide-ranging general application. The technique takes advantage of low average density of fissionable material in typical storage arrays to separate neutron interactions that take place in the neutron's ''birth unit'' from subsequent interactions in a highly dilute array. Effects of array size, in particular, are conservatively calculated by straightforward analyses which simply smear array contents uniformly across the extent of the array. For given unit loadings in standard containers, practical expressions for neutron multiplication depend only on overall array shape, size and reflective boundary

Diagnostics of the BIOMASS feed array prototype

DEFF Research Database (Denmark)

Cappellin, Cecilia; Pivnenko, Sergey; Pontoppidan, Kennie Nybo

2013-01-01

The 3D reconstruction algorithm is applied to the prototype feed array of the BIOMASS synthetic aperture radar, recently measured at the DTU-ESA Spherical Near-Field Antenna Test Facility in Denmark. Careful analysis of the measured feed array data has shown that the test support structure...

Ultrasound beam characteristics of a symmetric nodal origami based array

Science.gov (United States)

Bilgunde, Prathamesh N.; Bond, Leonard J.

2018-04-01

Origami-the ancient art of paper folding-is being explored in acoustics for effective focusing of sound. In this short communication, we present a numerical investigation of beam characteristics for an origami based ultrasound array. A spatial re-configuration of array elements is performed based upon the symmetric nodal origami. The effect of fold angle on the ultrasound beam is evaluated using frequency domain and transient finite element analysis. It was found that increase in the fold angle reduces near field length by 58% and also doubles the beam intensity as compared to the linear array. Transient analysis also indicated 80% reduction in the -6dB beam width, which can improve the lateral resolution of phased array. Such a spatially re-configurable array could potentially be used in the future to reduce the cost of electronics in the phased array instrumentation.

Case report of newborn with de novo partial trisomy 2q31.2–37.3 ...

Indian Academy of Sciences (India)

MAURIZIA COLANGELO

2018-02-24

Feb 24, 2018 ... Keywords. duplication of 2q31.2 and 2q37.3; monosomy 9p; array CGH. Introduction ... of gestation from a 39-year old Caucasian female. She is the second child of healthy and nonconsanguineous par- ents. She has a healthy ..... growth with intellectual disability, while duplications dis- tal to 2q33 show a ...

A Fusion Approach to Feature Extraction by Wavelet Decomposition and Principal Component Analysis in Transient Signal Processing of SAW Odor Sensor Array

Directory of Open Access Journals (Sweden)

Prashant SINGH

2011-03-01

Full Text Available This paper presents theoretical analysis of a new approach for development of surface acoustic wave (SAW sensor array based odor recognition system. The construction of sensor array employs a single polymer interface for selective sorption of odorant chemicals in vapor phase. The individual sensors are however coated with different thicknesses. The idea of sensor coating thickness variation is for terminating solvation and diffusion kinetics of vapors into polymer up to different stages of equilibration on different sensors. This is expected to generate diversity in information content of the sensors transient. The analysis is based on wavelet decomposition of transient signals. The single sensor transients have been used earlier for generating odor identity signatures based on wavelet approximation coefficients. In the present work, however, we exploit variability in diffusion kinetics due to polymer thicknesses for making odor signatures. This is done by fusion of the wavelet coefficients from different sensors in the array, and then applying the principal component analysis. We find that the present approach substantially enhances the vapor class separability in feature space. The validation is done by generating synthetic sensor array data based on well-established SAW sensor theory.

Verification of computed tomographic estimates of cochlear implant array position: a micro-CT and histologic analysis.

Science.gov (United States)

Teymouri, Jessica; Hullar, Timothy E; Holden, Timothy A; Chole, Richard A

2011-08-01

To determine the efficacy of clinical computed tomographic (CT) imaging to verify postoperative electrode array placement in cochlear implant (CI) patients. Nine fresh cadaver heads underwent clinical CT scanning, followed by bilateral CI insertion and postoperative clinical CT scanning. Temporal bones were removed, trimmed, and scanned using micro-CT. Specimens were then dehydrated, embedded in either methyl methacrylate or LR White resin, and sectioned with a diamond wafering saw. Histology sections were examined by 3 blinded observers to determine the position of individual electrodes relative to soft tissue structures within the cochlea. Electrodes were judged to be within the scala tympani, scala vestibuli, or in an intermediate position between scalae. The position of the array could be estimated accurately from clinical CT scans in all specimens using micro-CT and histology as a criterion standard. Verification using micro-CT yielded 97% agreement, and histologic analysis revealed 95% agreement with clinical CT results. A composite, 3-dimensional image derived from a patient's preoperative and postoperative CT images using a clinical scanner accurately estimates the position of the electrode array as determined by micro-CT imaging and histologic analyses. Information obtained using the CT method provides valuable insight into numerous variables of interest to patient performance such as surgical technique, array design, and processor programming and troubleshooting.

Genetic analysis of presbycusis by arrayed primer extension.

Science.gov (United States)

Rodriguez-Paris, Juan; Ballay, Charles; Inserra, Michelle; Stidham, Katrina; Colen, Tahl; Roberson, Joseph; Gardner, Phyllis; Schrijver, Iris

2008-01-01

Using the Hereditary Hearing Loss arrayed primer extension (APEX) array, which contains 198 mutations across 8 hearing loss-associated genes (GJB2, GJB6, GJB3, GJA1, SLC26A4, SLC26A5, 12S-rRNA, and tRNA Ser), we compared the frequency of sequence variants in 94 individuals with early presbycusis to 50 unaffected controls and aimed to identify possible genetic contributors. This cross-sectional study was performed at Stanford University with presbycusis samples from the California Ear Institute. The patients were between ages 20 and 65 yr, with adult-onset sensorineural hearing loss of unknown etiology, and carried a clinical diagnosis of early presbycusis. Exclusion criteria comprised known causes of hearing loss such as significant noise exposure, trauma, ototoxic medication, neoplasm, and congenital infection or syndrome, as well as congenital or pediatric onset. Sequence changes were identified in 11.7% and 10% of presbycusis and control alleles, respectively. Among the presbycusis group, these solely occurred within the GJB2 and SLC26A4 genes. Homozygous and compound heterozygous pathogenic mutations were exclusively seen in affected individuals. We were unable to detect a statistically significant difference between our control and affected populations regarding the frequency of sequence variants detected with the APEX array. Individuals who carry two mild mutations in the GJB2 gene possibly have an increased risk of developing early presbycusis.

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2011-03-01

Conclusions: Prenatal diagnosis of major congenital malformations should alert one to the possibility of chromosomal abnormalities. Multiplex ligation-dependent probe amplification and aCGH have the advantage of rapid aneuploidy diagnosis of common aneuploidies in cases with major congenital malformations.

Focal plane array with modular pixel array components for scalability

Science.gov (United States)

Kay, Randolph R; Campbell, David V; Shinde, Subhash L; Rienstra, Jeffrey L; Serkland, Darwin K; Holmes, Michael L

2014-12-09

A modular, scalable focal plane array is provided as an array of integrated circuit dice, wherein each die includes a given amount of modular pixel array circuitry. The array of dice effectively multiplies the amount of modular pixel array circuitry to produce a larger pixel array without increasing die size. Desired pixel pitch across the enlarged pixel array is preserved by forming die stacks with each pixel array circuitry die stacked on a separate die that contains the corresponding signal processing circuitry. Techniques for die stack interconnections and die stack placement are implemented to ensure that the desired pixel pitch is preserved across the enlarged pixel array.

Analysis of seismic waves crossing the Santa Clara Valley using the three-component MUSIQUE array algorithm

Science.gov (United States)

Hobiger, Manuel; Cornou, Cécile; Bard, Pierre-Yves; Le Bihan, Nicolas; Imperatori, Walter

2016-10-01

We introduce the MUSIQUE algorithm and apply it to seismic wavefield recordings in California. The algorithm is designed to analyse seismic signals recorded by arrays of three-component seismic sensors. It is based on the MUSIC and the quaternion-MUSIC algorithms. In a first step, the MUSIC algorithm is applied in order to estimate the backazimuth and velocity of incident seismic waves and to discriminate between Love and possible Rayleigh waves. In a second step, the polarization parameters of possible Rayleigh waves are analysed using quaternion-MUSIC, distinguishing retrograde and prograde Rayleigh waves and determining their ellipticity. In this study, we apply the MUSIQUE algorithm to seismic wavefield recordings of the San Jose Dense Seismic Array. This array has been installed in 1999 in the Evergreen Basin, a sedimentary basin in the Eastern Santa Clara Valley. The analysis includes 22 regional earthquakes with epicentres between 40 and 600 km distant from the array and covering different backazimuths with respect to the array. The azimuthal distribution and the energy partition of the different surface wave types are analysed. Love waves dominate the wavefield for the vast majority of the events. For close events in the north, the wavefield is dominated by the first harmonic mode of Love waves, for farther events, the fundamental mode dominates. The energy distribution is different for earthquakes occurring northwest and southeast of the array. In both cases, the waves crossing the array are mostly arriving from the respective hemicycle. However, scattered Love waves arriving from the south can be seen for all earthquakes. Combining the information of all events, it is possible to retrieve the Love wave dispersion curves of the fundamental and the first harmonic mode. The particle motion of the fundamental mode of Rayleigh waves is retrograde and for the first harmonic mode, it is prograde. For both modes, we can also retrieve dispersion and ellipticity

Reporter-Based Synthetic Genetic Array Analysis: A Functional Genomics Approach for Investigating Transcript or Protein Abundance Using Fluorescent Proteins in Saccharomyces cerevisiae.

Science.gov (United States)

Göttert, Hendrikje; Mattiazzi Usaj, Mojca; Rosebrock, Adam P; Andrews, Brenda J

2018-01-01

Fluorescent reporter genes have long been used to quantify various cell features such as transcript and protein abundance. Here, we describe a method, reporter synthetic genetic array (R-SGA) analysis, which allows for the simultaneous quantification of any fluorescent protein readout in thousands of yeast strains using an automated pipeline. R-SGA combines a fluorescent reporter system with standard SGA analysis and can be used to examine any array-based strain collection available to the yeast community. This protocol describes the R-SGA methodology for screening different arrays of yeast mutants including the deletion collection, a collection of temperature-sensitive strains for the assessment of essential yeast genes and a collection of inducible overexpression strains. We also present an alternative pipeline for the analysis of R-SGA output strains using flow cytometry of cells in liquid culture. Data normalization for both pipelines is discussed.

Timed arrays wideband and time varying antenna arrays

CERN Document Server

Haupt, Randy L

2015-01-01

Introduces timed arrays and design approaches to meet the new high performance standards The author concentrates on any aspect of an antenna array that must be viewed from a time perspective. The first chapters briefly introduce antenna arrays and explain the difference between phased and timed arrays. Since timed arrays are designed for realistic time-varying signals and scenarios, the book also reviews wideband signals, baseband and passband RF signals, polarization and signal bandwidth. Other topics covered include time domain, mutual coupling, wideband elements, and dispersion. The auth

Chromosome 12q24.31-q24.33 deletion causes multiple dysmorphic features and developmental delay: First mosaic patient and overview of the phenotype related to 12q24qter defects

Directory of Open Access Journals (Sweden)

Sakati Nadia

2011-04-01

Full Text Available Abstract Background Genomic imbalances of the 12q telomere are rare; only a few patients having 12q24.31-q24.33 deletions were reported. Interestingly none of these were mosaic. Although some attempts have been made to establish phenotype/genotype interaction for the deletions in this region, no clear relationship has been established to date. Results We have clinically screened more than 100 patients with dysmorphic features, mental retardation and normal karyotype using high density oligo array-CGH (aCGH and identified a ~9.2 Mb hemizygous interstitial deletion at the 12q telomere (Chromosome 12: 46,XY,del(12(q24.31q24.33 in a severely developmentally retarded patient having dysmorphic features such as low set ears, microcephaly, undescended testicles, bent elbow, kyphoscoliosis, and micropenis. Parents were found to be not carriers. MLPA experiments confirmed the aCGH result. Interphase FISH revealed mosaicism in cultured peripheral blood lymphocytes. Conclusions Since conventional G-Banding technique missed the abnormality; this work re-confirms that any child with unexplained developmental delay and systemic involvement should be studied by aCGH techniques. The FISH technique, however, would still be useful to further delineate the research work and identify such rare mosaicism. Among the 52 deleted genes, P2RX2, ULK1, FZD10, RAN, NCOR2 STX2, TESC, FBXW8, and TBX3 are noteworthy since they may have a role in observed phenotype.

The Design and Analysis of Split Row-Column Addressing Array for 2-D Transducer

Directory of Open Access Journals (Sweden)

Xu Li

2016-09-01

Full Text Available For 3-D ultrasound imaging, the row-column addressing (RCA with 2N connections for an N × N 2-D array makes the fabrication and interconnection simpler than the fully addressing with N2 connections. However, RCA degrades the image quality because of defocusing in signal channel direction in the transmit event. To solve this problem, a split row-column addressing scheme (SRCA is proposed in this paper. Rather than connecting all the elements in the signal channel direction together, this scheme divides the elements in the signal channel direction into several disconnected blocks, thus enables focusing beam access in both signal channel and switch channel directions. Selecting an appropriate split scheme is the key for SRCA to maintaining a reasonable tradeoff between the image quality and the number of connections. Various split schemes for a 32 × 32 array are fully investigated with point spread function (PSF analysis and imaging simulation. The result shows the split scheme with five blocks (4, 6, 12, 6, and 4 elements of each block can provide similar image quality to fully addressing. The splitting schemes for different array sizes from 16 × 16 to 96 × 96 are also discussed.

Primary orbital precursor T-cell lymphoblastic lymphoma

DEFF Research Database (Denmark)

Stenman, Lisa; Persson, Marta; Enlund, Fredrik

2016-01-01

Primary T-cell lymphoblastic lymphoma (T-LBL) in the eye region is very rare. The present study described a unique case of T-LBL involving the extraocular muscles. A 22-year-old male patient presented with a 3-week history of headache, reduced visual acuity and edema of the left eye. Clinical...... examination revealed left-sided exophthalmus, periorbital edema, chemosis, and reduced motility of the left eye. A magnetic resonance imaging scan revealed thickening of the left orbital muscles and a positron emission tomography-computed tomography scan also demonstrated activity in a subclavicular lymph....... There was no involvement of the bone marrow. Based on the clinical and histopathological findings, a diagnosis of T-LBL was made. There was no evidence of NOTCH1 mutation or rearrangements of the ETV6 and MLL genes and high-resolution array-based comparative genomic hybridization (arrayCGH) analysis revealed a normal...

ArrayBridge: Interweaving declarative array processing with high-performance computing

Energy Technology Data Exchange (ETDEWEB)

Xing, Haoyuan [The Ohio State Univ., Columbus, OH (United States); Floratos, Sofoklis [The Ohio State Univ., Columbus, OH (United States); Blanas, Spyros [The Ohio State Univ., Columbus, OH (United States); Byna, Suren [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Prabhat, Prabhat [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Wu, Kesheng [Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States); Brown, Paul [Paradigm4, Inc., Waltham, MA (United States)

2017-05-04

Scientists are increasingly turning to datacenter-scale computers to produce and analyze massive arrays. Despite decades of database research that extols the virtues of declarative query processing, scientists still write, debug and parallelize imperative HPC kernels even for the most mundane queries. This impedance mismatch has been partly attributed to the cumbersome data loading process; in response, the database community has proposed in situ mechanisms to access data in scientific file formats. Scientists, however, desire more than a passive access method that reads arrays from files. This paper describes ArrayBridge, a bi-directional array view mechanism for scientific file formats, that aims to make declarative array manipulations interoperable with imperative file-centric analyses. Our prototype implementation of ArrayBridge uses HDF5 as the underlying array storage library and seamlessly integrates into the SciDB open-source array database system. In addition to fast querying over external array objects, ArrayBridge produces arrays in the HDF5 file format just as easily as it can read from it. ArrayBridge also supports time travel queries from imperative kernels through the unmodified HDF5 API, and automatically deduplicates between array versions for space efficiency. Our extensive performance evaluation in NERSC, a large-scale scientific computing facility, shows that ArrayBridge exhibits statistically indistinguishable performance and I/O scalability to the native SciDB storage engine.

Tests of operating conditions for metrological application of HTS Josephson arrays

International Nuclear Information System (INIS)

Sosso, A; Lacquaniti, V; Andreone, D; Cerri, R; Klushin, A M

2006-01-01

We report on an experimental study of metrological properties of High Temperature Superconductor arrays, made of shunted bicrystal YBCO Josephson junctions, to assess their accuracy. A detailed analysis of measurement errors is presented, mainly based on a direct comparison of an HTS array against a low temperature array. Owing to the high sensitivity of the comparison, we were able to measure the changes in the HTS array voltage on a step at nanovolt level. A precise estimate of the dependence of the HTS array step width on operating conditions was obtained. Differences were observed with respect to the results provided by the usual, low sensitivity, techniques, confirming that the method we adopted is necessary in the study of HTS arrays for metrology. The high sensitivity analysis was applied in the derivation of the temperature dependence of the critical current as well, providing some insights on the behaviour of the HTS array

9q22 Deletion - First Familial Case

Directory of Open Access Journals (Sweden)

Yamamoto Toshiyuki

2011-06-01

Full Text Available Abstract Background Only 29 cases of constitutional 9q22 deletions have been published and all have been sporadic. Most associate with Gorlin syndrome or nevoid basal cell carcinoma syndrome (NBCCS, MIM #109400 due to haploinsufficiency of the PTCH1 gene (MIM *601309. Methods and Results We report two mentally retarded female siblings and their cognitively normal father, all carrying a similar 5.3 Mb microdeletion at 9q22.2q22.32, detected by array CGH (244 K. The deletion does not involve the PTCH1 gene, but instead 30 other gene,s including the ROR2 gene (MIM *602337 which causing both brachydactyly type 1 (MIM #113000 and Robinow syndrome (MIM #268310, and the immunologically active SYK gene (MIM *600085. The deletion in the father was de novo and FISH analysis of blood lymphocytes did not suggest mosaicism. All three patients share similar mild dysmorphic features with downslanting palpebral fissures, narrow, high bridged nose with small nares, long, deeply grooved philtrum, ears with broad helix and uplifted lobuli, and small toenails. All have significant dysarthria and suffer from continuous middle ear and upper respiratory infections. The father also has a funnel chest and unilateral hypoplastic kidney but the daughters have no malformations. Conclusions This is the first report of a familial constitutional 9q22 deletion and the first deletion studied by array-CGH which does not involve the PTCH1 gene. The phenotype and penetrance are variable and the deletion found in the cognitively normal normal father poses a challenge in genetic counseling.

Evaluation of phased array UT conditions using ultrasonic visualization technique

International Nuclear Information System (INIS)

Furukawa, Takashi; Komura, Ichirou

2008-01-01

Phased array provides many advantages over conventional ultrasonic testing method, but phased array has also limitations. This paper describes typical results of the experimental sound field analysis generated from the array probe. A photo-elastic ultrasonic visualization technique was applied in this study. The sound fields of shear wave generated from the array probe was equivalent to that from the fixed angle probe. (author)

Comprehensive genetic assessment of the human embryo: can empiric application of microarray comparative genomic hybridization reduce multiple gestation rate by single fresh blastocyst transfer?

Science.gov (United States)

Sills, Eric Scott; Yang, Zhihong; Walsh, David J; Salem, Shala A

2012-09-01

The unacceptable multiple gestation rate currently associated with in vitro fertilization (IVF) would be substantially alleviated if the routine practice of transferring more than one embryo were reconsidered. While transferring a single embryo is an effective method to reduce the clinical problem of multiple gestation, rigid adherence to this approach has been criticized for negatively impacting clinical pregnancy success in IVF. In general, single embryo transfer is viewed cautiously by IVF patients although greater acceptance would result from a more effective embryo selection method. Selection of one embryo for fresh transfer on the basis of chromosomal normalcy should achieve the dual objective of maintaining satisfactory clinical pregnancy rates and minimizing the multiple gestation problem, because embryo aneuploidy is a major contributing factor in implantation failure and miscarriage in IVF. The initial techniques for preimplantation genetic screening unfortunately lacked sufficient sensitivity and did not yield the expected results in IVF. However, newer molecular genetic methods could be incorporated with standard IVF to bring the goal of single embryo transfer within reach. Aiming to make multiple embryo transfers obsolete and unnecessary, and recognizing that array comparative genomic hybridization (aCGH) will typically require an additional 12 h of laboratory time to complete, we propose adopting aCGH for mainstream use in clinical IVF practice. As aCGH technology continues to develop and becomes increasingly available at lower cost, it may soon be considered unusual for IVF laboratories to select a single embryo for fresh transfer without regard to its chromosomal competency. In this report, we provide a rationale supporting aCGH as the preferred methodology to provide a comprehensive genetic assessment of the single embryo before fresh transfer in IVF. The logistics and cost of integrating aCGH with IVF to enable fresh embryo transfer are also

X ray photoelectron spectroscopy (XPS) analysis of Photosensitive ZrO2 array

Science.gov (United States)

Li, Y.; Zhao, G.; Zhu, R.; Kou, Z.

2018-03-01

Based on organic zirconium source as the starting material, by adding chemical modifiers which are made up with photosensitive ZrO2 sol. A uniformed ZrO2 array dot was fabricated with a mean diameter of around 800 nm. By using UV-vis spectra and X-ray photoelectron spectroscopy analysis method, studies the photosensitive ZrO2 gel film of photochemical reaction process and the photosensitive mechanism, to determine the zirconium atom centered chelate structure, reaction formed by metal chelate Zr atom for the center, and to establish the molecular model of the chelate. And studied the ultraviolet light in the process of the variation of the XPS spectra, Zr3d5/2 to 184.9 eV corresponding to the binding energy of the as the combination of state peak gradually reduce; By combining with the status of Zr-O peak gradually increase; The strength of the peak is gradually decline. This suggests that in the process of ultraviolet light photo chemical reaction happened. This study is of great significance to the micro fabrication of ZrO2 array not only to the memory devices but also to the optical devices.

Analysis of Correlation in MEMS Gyroscope Array and its Influence on Accuracy Improvement for the Combined Angular Rate Signal

Directory of Open Access Journals (Sweden)

Liang Xue

2018-01-01

Full Text Available Obtaining a correlation factor is a prerequisite for fusing multiple outputs of a mircoelectromechanical system (MEMS gyroscope array and evaluating accuracy improvement. In this paper, a mathematical statistics method is established to analyze and obtain the practical correlation factor of a MEMS gyroscope array, which solves the problem of determining the Kalman filter (KF covariance matrix Q and fusing the multiple gyroscope signals. The working principle and mathematical model of the sensor array fusion is briefly described, and then an optimal estimate of input rate signal is achieved by using of a steady-state KF gain in an off-line estimation approach. Both theoretical analysis and simulation show that the negative correlation factor has a favorable influence on accuracy improvement. Additionally, a four-gyro array system composed of four discrete individual gyroscopes was developed to test the correlation factor and its influence on KF accuracy improvement. The result showed that correlation factors have both positive and negative values; in particular, there exist differences for correlation factor between the different units in the array. The test results also indicated that the Angular Random Walk (ARW of 1.57°/h0.5 and bias drift of 224.2°/h for a single gyroscope were reduced to 0.33°/h0.5 and 47.8°/h with some negative correlation factors existing in the gyroscope array, making a noise reduction factor of about 4.7, which is higher than that of a uncorrelated four-gyro array. The overall accuracy of the combined angular rate signal can be further improved if the negative correlation factors in the gyroscope array become larger.

Whole-genome analysis of herbicide-tolerant mutant rice generated by Agrobacterium-mediated gene targeting.

Science.gov (United States)

Endo, Masaki; Kumagai, Masahiko; Motoyama, Ritsuko; Sasaki-Yamagata, Harumi; Mori-Hosokawa, Satomi; Hamada, Masao; Kanamori, Hiroyuki; Nagamura, Yoshiaki; Katayose, Yuichi; Itoh, Takeshi; Toki, Seiichi

2015-01-01

Gene targeting (GT) is a technique used to modify endogenous genes in target genomes precisely via homologous recombination (HR). Although GT plants are produced using genetic transformation techniques, if the difference between the endogenous and the modified gene is limited to point mutations, GT crops can be considered equivalent to non-genetically modified mutant crops generated by conventional mutagenesis techniques. However, it is difficult to guarantee the non-incorporation of DNA fragments from Agrobacterium in GT plants created by Agrobacterium-mediated GT despite screening with conventional Southern blot and/or PCR techniques. Here, we report a comprehensive analysis of herbicide-tolerant rice plants generated by inducing point mutations in the rice ALS gene via Agrobacterium-mediated GT. We performed genome comparative genomic hybridization (CGH) array analysis and whole-genome sequencing to evaluate the molecular composition of GT rice plants. Thus far, no integration of Agrobacterium-derived DNA fragments has been detected in GT rice plants. However, >1,000 single nucleotide polymorphisms (SNPs) and insertion/deletion (InDels) were found in GT plants. Among these mutations, 20-100 variants might have some effect on expression levels and/or protein function. Information about additive mutations should be useful in clearing out unwanted mutations by backcrossing. © The Author 2014. Published by Oxford University Press on behalf of Japanese Society of Plant Physiologists.

Thermal crosstalk in heated microcantilever arrays

International Nuclear Information System (INIS)

Kim, Hoe Joon; Dai, Zhenting; King, William P

2013-01-01

We report on a detailed characterization and analysis of thermal crosstalk in a heated microcantilever array. The fabricated heated cantilever array consists of five identical independently controlled heated cantilevers. The temperature of each cantilever can be controlled over a large temperature range, up to 900 °C, by means of an integrated solid-state resistive heater. We analyze thermal crosstalk in steady and transient operating conditions when the heated cantilever array is either in contact with a substrate or freely suspended in air. The thermal conductance between neighboring cantilevers is as high as 0.61 µW °C −1 , resulting in non-negligible temperature increases in neighboring cantilevers, depending upon the operating conditions. By understanding and accounting for thermal crosstalk, it is possible to improve temperature control and temperature measurements with heated microcantilever arrays. (paper)

Low concentration ratio solar array for low Earth orbit multi-100 kW application. Volume 1: Design, analysis and development tests

Science.gov (United States)

1983-01-01

A preliminary design effort directed toward a low concentration ratio photovoltaic array system capable of delivering multihundred kilowatts (300 kW to 1000 kW range) in low earth orbit is described. The array system consists of two or more array modules each capable of delivering between 113 kW to 175 kW using silicon solar cells or gallium arsenide solar cells, respectively. The array module deployed area is 1320 square meters and consists of 4356 pyramidal concentrator elements. The module, when stowed in the Space Shuttle's payload bay, has a stowage volume of a cube with 3.24 meters on a side. The concentrator elements are sized for a geometric concentration ratio (GCR) of six with an aperture area of .25 sq. m. The structural analysis and design trades leading to the baseline design are discussed. It describes the configuration, as well as optical, thermal and electrical performance analyses that support the design and overall performance estimates for the array are described.

Circular Array of Magnetic Sensors for Current Measurement: Analysis for Error Caused by Position of Conductor.

Science.gov (United States)

Yu, Hao; Qian, Zheng; Liu, Huayi; Qu, Jiaqi

2018-02-14

This paper analyzes the measurement error, caused by the position of the current-carrying conductor, of a circular array of magnetic sensors for current measurement. The circular array of magnetic sensors is an effective approach for AC or DC non-contact measurement, as it is low-cost, light-weight, has a large linear range, wide bandwidth, and low noise. Especially, it has been claimed that such structure has excellent reduction ability for errors caused by the position of the current-carrying conductor, crosstalk current interference, shape of the conduction cross-section, and the Earth's magnetic field. However, the positions of the current-carrying conductor-including un-centeredness and un-perpendicularity-have not been analyzed in detail until now. In this paper, for the purpose of having minimum measurement error, a theoretical analysis has been proposed based on vector inner and exterior product. In the presented mathematical model of relative error, the un-center offset distance, the un-perpendicular angle, the radius of the circle, and the number of magnetic sensors are expressed in one equation. The comparison of the relative error caused by the position of the current-carrying conductor between four and eight sensors is conducted. Tunnel magnetoresistance (TMR) sensors are used in the experimental prototype to verify the mathematical model. The analysis results can be the reference to design the details of the circular array of magnetic sensors for current measurement in practical situations.

Detection of Genetic Alterations in Breast Sentinel Lymph Node by Array-CGH

National Research Council Canada - National Science Library

Cavalli, Luciane R

2005-01-01

The sentinel lymph node (SLN) is the first node in the mammary gland to harbor malignant cells in breast tumors with metastasis, and SLN positivity is an indication for axillary lymph node dissection...

Detection of Genetic Alterations in Breast Sentinel Lymph Node by Array-CGH

National Research Council Canada - National Science Library

Cavalli, Luciane R

2006-01-01

The sentinel lymph node (SLN) is the first node in the mammary gland to harbor malignant cells in breast tumors with metastasis, and SLN positivity is an indication for axillary lymph node dissection...

Ctrl+Shift+Enter mastering Excel array formulas a book about building efficient formulas, advanced formulas, and array formulas for data analysis

CERN Document Server

Girvin, Mike

2013-01-01

Designed with Excel gurus in mind, this handbook outlines how to create formulas that can be used to solve everyday problems with a series of data values that standard Excel formulas cannot or would be too arduous to attempt. Beginning with an introduction to array formulas, this manual examines topics such as how they differ from ordinary formulas, the benefits and drawbacks of their use, functions that can and cannot handle array calculations, and array constants and functions. Among the practical applications surveyed include how to extract data from tables and unique lists, how to get resu

MethLAB: a graphical user interface package for the analysis of array-based DNA methylation data.

Science.gov (United States)

Kilaru, Varun; Barfield, Richard T; Schroeder, James W; Smith, Alicia K; Conneely, Karen N

2012-03-01

Recent evidence suggests that DNA methylation changes may underlie numerous complex traits and diseases. The advent of commercial, array-based methods to interrogate DNA methylation has led to a profusion of epigenetic studies in the literature. Array-based methods, such as the popular Illumina GoldenGate and Infinium platforms, estimate the proportion of DNA methylated at single-base resolution for thousands of CpG sites across the genome. These arrays generate enormous amounts of data, but few software resources exist for efficient and flexible analysis of these data. We developed a software package called MethLAB (http://genetics.emory.edu/conneely/MethLAB) using R, an open source statistical language that can be edited to suit the needs of the user. MethLAB features a graphical user interface (GUI) with a menu-driven format designed to efficiently read in and manipulate array-based methylation data in a user-friendly manner. MethLAB tests for association between methylation and relevant phenotypes by fitting a separate linear model for each CpG site. These models can incorporate both continuous and categorical phenotypes and covariates, as well as fixed or random batch or chip effects. MethLAB accounts for multiple testing by controlling the false discovery rate (FDR) at a user-specified level. Standard output includes a spreadsheet-ready text file and an array of publication-quality figures. Considering the growing interest in and availability of DNA methylation data, there is a great need for user-friendly open source analytical tools. With MethLAB, we present a timely resource that will allow users with no programming experience to implement flexible and powerful analyses of DNA methylation data.

An intuitive concept for manufacturing and inspecting of aspherical components

Science.gov (United States)

Chou, Hsiao-Yu; Chang, Keng-Shou

2011-09-01

In this paper we propose an intuitive concept for manufacturing and inspecting of aspherical components. Two types, parabolic and cylinder, of plano-convex and plano-concave aspherical lenses were made by LOH 120S form generation machine. Three form error measurement methods were used known as coordinate measuring machine (CMM), interferometer with CGH null lens and inspection with combined pair lenses. Ultra high accuracy CMM from Panasonic Co., CGH cylinder null and CGH aspheric null from Diffraction International and OWI 150 ASPH CGH interferometer from OptoTech GmbH play the roll for measurement. CMM was used as a surface profiler to inspect the surface shape, and the software GRAPHER was also used as analysis tool to exam asphere numerical datum. The difference between theoretical and practical is as a surface polishing revised reference. The finished plano-convex and plano-concave aspherical lenses can be combined to be a plane lens. The individual and combined lenses were inspected on OPTOTECH OWI 150 ASPH CGH interferometer. The compared interference patterns have shown with the Diffration International CGH Aspheric Null "ASPHERIC 1" and CGH Cylinder Null "H80F2C". Through the procedure, the combined plano-convex and plano-concave aspherical lenses should be a perfect match plane lens and the individual lens might be an aspherical test standard element for quick inspection.

Performances of the UNDERground SEISmic array for the analysis of seismicity in Central Italy

Directory of Open Access Journals (Sweden)

R. Scarpa

2006-06-01

Full Text Available This paper presents the first results from the operation of a dense seismic array deployed in the underground Physics Laboratories at Gran Sasso (Central Italy. The array consists of 13 short-period, three-component seismometers with an aperture of about 550 m and average sensor spacing of 90 m. The reduced sensor spacing, joined to the spatially-white character of the background noise allows for quick and reliable detection of coherent wavefront arrivals even under very poor SNR conditions. We apply high-resolution frequency-slowness and polarization analyses to a set of 27 earthquakes recorded between November, 2002, and September, 2003, at epicentral distances spanning the 20-140 km interval. We locate these events using inversion of P- and S-wave backazimuths and S-P delay times, and compare the results with data from the Centralized National Seismic Network catalog. For the case of S-wave, the discrepancies among the two set of locations never exceed 10 km; the largest errors are instead observed for the case of P-waves. This observation may be due to the fact that the small array aperture does not allow for robust assessment of waves propagating at high apparent velocities. This information is discussed with special reference to the directions of future studies aimed at elucidating the location of seismogenetic structures in Central Italy from extended analysis of the micro-seismicity.

A Multimode Equivalent Network Approach for the Analysis of a 'Realistic' Finite Array of Open Ended Waveguides

NARCIS (Netherlands)

Neto, A.; Bolt, R.; Gerini, G.; Schmitt, D.

2003-01-01

In this contribution we present a theoretical model for the analysis of finite arrays of open-ended waveguides mounted on finite mounting platforms or having radome coverages. This model is based on a Multimode Equivalent Network (MEN) [1] representation of the radiating waveguides complete with

Suppression of 3D coherent noise by areal geophone array; Menteki jushinki array ni yoru sanjigen coherent noise no yokusei

Energy Technology Data Exchange (ETDEWEB)

Murayama, R; Nakagami, K; Tanaka, H [Japan National Oil Corp., Tokyo (Japan). Technology Research Center

1996-05-01

For improving the quality of data collected by reflection seismic exploration, a lattice was deployed at one point of a traverse line, and the data therefrom were used to study the 3D coherent noise suppression effect of the areal array. The test was conducted at a Japan National Oil Corporation test field in Kashiwazaki City, Niigata Prefecture. The deployed lattice had 144 vibration receiving points arrayed at intervals of 8m composing an areal array, and 187 vibration generating points arrayed at intervals of 20m extending over 6.5km. Data was collected at the vibration receiving points in the lattice, each point acting independently from the others, and processed for the composition of a large areal array, with the said data from plural vibration receiving points added up therein. As the result of analysis of the records covering the data collected at the receiving points in the lattice, it is noted that an enlarged areal array leads to a higher S/N ratio and that different reflection waves are emphasized when the array direction is changed. 1 ref., 6 figs.

Development and field practical performance of smart array probe

International Nuclear Information System (INIS)

Maeda, Kotaro; Shimone, Junri; Akagawa, Junichi; Nagata, Yasuyuki; Harada, Yutaka; Sera, Takehiko; Hirano, Shinro

2011-01-01

In 1999, NEL developed the transmit-receive type ECT array probe for steam generator (SG) tubing, called 'X-probe', in cooperation with foreign firms. Recently NEL has developed the advanced ECT array probe, 'Smart Array Probe', characterized with a significantly improved resolution for circumferential cracks. The doubled channels in the circumferential mode have greatly improved the circumferential resolution of Smart Array Probe. With all the circumferential mode channels on the same circle, there is no need for axial position correction of inspection data. This report describes both the field practical performance and the compliance assessment to a Japanese SG-ECT guideline 'JEAG4208' of Smart Array ECT System, composed of Smart Array Probe, pusher-in-tester 'OMNI-200', and NEL's ECT Analysis System. (author)

Evaluation of chronic lymphocytic leukemia by BAC-based microarray analysis

Directory of Open Access Journals (Sweden)

McDaniel Lisa D

2011-02-01

Full Text Available Abstract Background Chronic lymphocytic leukemia (CLL is a highly variable disease with life expectancies ranging from months to decades. Cytogenetic findings play an integral role in defining the prognostic significance and treatment for individual patients. Results We have evaluated 25 clinical cases from a tertiary cancer center that have an established diagnosis of CLL and for which there was prior cytogenetic and/or fluorescence in situ hybridization (FISH data. We performed microarray-based comparative genomic hybridization (aCGH using a bacterial artificial chromosome (BAC-based microarray designed for the detection of known constitutional genetic syndromes. In 15 of the 25 cases, aCGH detected all copy number imbalances identified by prior cytogenetic and/or FISH studies. For the majority of those not detected, the aberrations were present at low levels of mosaicism. Furthermore, for 15 of the 25 cases, additional abnormalities were detected. Four of those cases had deletions that mapped to intervals implicated in inherited predisposition to CLL. For most cases, aCGH was able to detect abnormalities present in as few as 10% of cells. Although changes in ploidy are not easily discernable by aCGH, results for two cases illustrate the detection of additional copy gains and losses present within a mosaic tetraploid cell population. Conclusions Our results illustrate the successful evaluation of CLL using a microarray optimized for the interrogation of inherited disorders and the identification of alterations with possible relevance to CLL susceptibility.

Simulating the Sky as Seen by the Square Kilometer Array using the MIT Array Performance Simulator (MAPS)

Science.gov (United States)

Matthews, Lynn D.; Cappallo, R. J.; Doeleman, S. S.; Fish, V. L.; Lonsdale, C. J.; Oberoi, D.; Wayth, R. B.

2009-05-01

The Square Kilometer Array (SKA) is a proposed next-generation radio telescope that will operate at frequencies of 0.1-30 GHz and be 50-100 times more sensitive than existing radio arrays. Meeting the performance goals of this instrument will require innovative new hardware and software developments, a variety of which are now under consideration. Key to evaluating the performance characteristics of proposed SKA designs and testing the feasibility of new data calibration and processing algorithms is the ability to carry out realistic simulations of radio wavelength arrays under a variety of observing conditions. The MIT Array Performance Simulator (MAPS) (http://www.haystack.mit.edu/ast/arrays/maps/index.html) is an observations simulation package designed to achieve this goal. MAPS accepts an input source list or sky model and generates a model visibility set for a user-defined "virtual observatory'', incorporating such factors as array geometry, primary beam shape, field-of-view, and time and frequency resolution. Optionally, effects such as thermal noise, out-of-beam sources, variable station beams, and time/location-dependent ionospheric effects can be included. We will showcase current capabilities of MAPS for SKA applications by presenting results from an analysis of the effects of realistic sky backgrounds on the achievable image fidelity and dynamic range of SKA-like arrays comprising large numbers of small-diameter antennas.

Null stream analysis of Pulsar Timing Array data: localisation of resolvable gravitational wave sources

Science.gov (United States)

Goldstein, Janna; Veitch, John; Sesana, Alberto; Vecchio, Alberto

2018-04-01

Super-massive black hole binaries are expected to produce a gravitational wave (GW) signal in the nano-Hertz frequency band which may be detected by pulsar timing arrays (PTAs) in the coming years. The signal is composed of both stochastic and individually resolvable components. Here we develop a generic Bayesian method for the analysis of resolvable sources based on the construction of `null-streams' which cancel the part of the signal held in common for each pulsar (the Earth-term). For an array of N pulsars there are N - 2 independent null-streams that cancel the GW signal from a particular sky location. This method is applied to the localisation of quasi-circular binaries undergoing adiabatic inspiral. We carry out a systematic investigation of the scaling of the localisation accuracy with signal strength and number of pulsars in the PTA. Additionally, we find that source sky localisation with the International PTA data release one is vastly superior than what is achieved by its constituent regional PTAs.

Analytical Kinematics and Coupled Vibrations Analysis of Mechanical System Operated by Solar Array Drive Assembly

Science.gov (United States)

Sattar, M.; Wei, C.; Jalali, A.; Sattar, R.

2017-07-01

To address the impact of solar array (SA) anomalies and vibrations on performance of precision space-based operations, it is important to complete its accurate jitter analysis. This work provides mathematical modelling scheme to approximate kinematics and coupled micro disturbance dynamics of rigid load supported and operated by solar array drive assembly (SADA). SADA employed in analysis provides a step wave excitation torque to activate the system. Analytical investigations into kinematics is accomplished by using generalized linear and Euler angle coordinates, applying multi-body dynamics concepts and transformations principles. Theoretical model is extended, to develop equations of motion (EoM), through energy method (Lagrange equation). The main emphasis is to research coupled frequency response by determining energies dissipated and observing dynamic behaviour of internal vibratory systems of SADA. The disturbance model captures discrete active harmonics of SADA, natural modes and vibration amplifications caused by interactions between active harmonics and structural modes of mechanical assembly. The proposed methodology can help to predict true micro disturbance nature of SADA operating rigid load. Moreover, performance outputs may be compared against actual mission requirements to assess precise spacecraft controller design to meet next space generation stringent accuracy goals.

Improved SNR of phased-array PERES coils via simulation study

International Nuclear Information System (INIS)

RodrIguez, Alfredo O; Medina, LucIa

2005-01-01

A computational comparison of signal-to-noise ratio (SNR) was performed between a conventional phased array of two circular-shaped coils and a petal resonator surface array. The quasi-static model and phased-array optimum SNR were combined to derive an SNR formula for each array. Analysis of mutual inductance between coil petals was carried out to compute the optimal coil separation and optimum number of petal coils. Mutual interaction between coil arrays was not included in the model because this does not drastically affect coil performance. Phased arrays of PERES coils show a 114% improvement in SNR over that of the simplest circular configuration. (note)

Array processing for seismic surface waves

Energy Technology Data Exchange (ETDEWEB)

Marano, S.

2013-07-01

This dissertation submitted to the Swiss Federal Institute of Technology ETH in Zurich takes a look at the analysis of surface wave properties which allows geophysicists to gain insight into the structure of the subsoil, thus avoiding more expensive invasive techniques such as borehole drilling. This thesis aims at improving signal processing techniques for the analysis of surface waves in various directions. One main contribution of this work is the development of a method for the analysis of seismic surface waves. The method also deals with the simultaneous presence of multiple waves. Several computational approaches to minimize costs are presented and compared. Finally, numerical experiments that verify the effectiveness of the proposed cost function and resulting array geometry designs are presented. These lead to greatly improved estimation performance in comparison to arbitrary array geometries.

Array processing for seismic surface waves

International Nuclear Information System (INIS)

Marano, S.

2013-01-01

This dissertation submitted to the Swiss Federal Institute of Technology ETH in Zurich takes a look at the analysis of surface wave properties which allows geophysicists to gain insight into the structure of the subsoil, thus avoiding more expensive invasive techniques such as borehole drilling. This thesis aims at improving signal processing techniques for the analysis of surface waves in various directions. One main contribution of this work is the development of a method for the analysis of seismic surface waves. The method also deals with the simultaneous presence of multiple waves. Several computational approaches to minimize costs are presented and compared. Finally, numerical experiments that verify the effectiveness of the proposed cost function and resulting array geometry designs are presented. These lead to greatly improved estimation performance in comparison to arbitrary array geometries

ArrayMining: a modular web-application for microarray analysis combining ensemble and consensus methods with cross-study normalization

Directory of Open Access Journals (Sweden)

Krasnogor Natalio

2009-10-01

Full Text Available Abstract Background Statistical analysis of DNA microarray data provides a valuable diagnostic tool for the investigation of genetic components of diseases. To take advantage of the multitude of available data sets and analysis methods, it is desirable to combine both different algorithms and data from different studies. Applying ensemble learning, consensus clustering and cross-study normalization methods for this purpose in an almost fully automated process and linking different analysis modules together under a single interface would simplify many microarray analysis tasks. Results We present ArrayMining.net, a web-application for microarray analysis that provides easy access to a wide choice of feature selection, clustering, prediction, gene set analysis and cross-study normalization methods. In contrast to other microarray-related web-tools, multiple algorithms and data sets for an analysis task can be combined using ensemble feature selection, ensemble prediction, consensus clustering and cross-platform data integration. By interlinking different analysis tools in a modular fashion, new exploratory routes become available, e.g. ensemble sample classification using features obtained from a gene set analysis and data from multiple studies. The analysis is further simplified by automatic parameter selection mechanisms and linkage to web tools and databases for functional annotation and literature mining. Conclusion ArrayMining.net is a free web-application for microarray analysis combining a broad choice of algorithms based on ensemble and consensus methods, using automatic parameter selection and integration with annotation databases.

Batch fabrication of disposable screen printed SERS arrays.

Science.gov (United States)

Qu, Lu-Lu; Li, Da-Wei; Xue, Jin-Qun; Zhai, Wen-Lei; Fossey, John S; Long, Yi-Tao

2012-03-07

A novel facile method of fabricating disposable and highly reproducible surface-enhanced Raman spectroscopy (SERS) arrays using screen printing was explored. The screen printing ink containing silver nanoparticles was prepared and printed on supporting materials by a screen printing process to fabricate SERS arrays (6 × 10 printed spots) in large batches. The fabrication conditions, SERS performance and application of these arrays were systematically investigated, and a detection limit of 1.6 × 10(-13) M for rhodamine 6G could be achieved. Moreover, the screen printed SERS arrays exhibited high reproducibility and stability, the spot-to-spot SERS signals showed that the intensity variation was less than 10% and SERS performance could be maintained over 12 weeks. Portable high-throughput analysis of biological samples was accomplished using these disposable screen printed SERS arrays.

Heat-rejection design for large concentrating solar arrays

Science.gov (United States)

French, E. P.

1980-01-01

This paper considers the effect of heat rejection devices (radiators) on the performance and cost of large concentrating solar arrays for space application. Overall array characteristics are derived from the weight, cost, and performance of four major components; namely primary structure, optics/secondary structure, radiator, and solar panel. An ideal concentrator analysis is used to establish general cost and performance trends independent of specific array design. Both passive and heat-pipe radiation are evaluated, with an incremental cost-of-power approach used in the evaluation. Passive radiators are found to be more cost effective with silicon than with gallium arsenide (GaAs) arrays. Representative concentrating arrays have been evaluated for both near-term and advanced solar cell technology. Minimum cost of power is achieved at geometric concentration ratios in the range 2 to 6.

Array Detector Modules for Spent Fuel Verification

Energy Technology Data Exchange (ETDEWEB)

Bolotnikov, Aleksey

2018-05-07

Brookhaven National Laboratory (BNL) proposes to evaluate the arrays of position-sensitive virtual Frisch-grid (VFG) detectors for passive gamma-ray emission tomography (ET) to verify the spent fuel in storage casks before storing them in geo-repositories. Our primary objective is to conduct a preliminary analysis of the arrays capabilities and to perform field measurements to validate the effectiveness of the proposed array modules. The outcome of this proposal will consist of baseline designs for the future ET system which can ultimately be used together with neutrons detectors. This will demonstrate the usage of this technology in spent fuel storage casks.

Analysis and Optimization of a Novel 2-D Magnet Array with Gaps and Staggers for a Moving-Magnet Planar Motor

Science.gov (United States)

Chen, Xuedong; Zeng, Lizhan

2018-01-01

This paper presents a novel 2-D magnet array with gaps and staggers, which is especially suitable for magnetically levitated planar motor with moving magnets. The magnetic flux density distribution is derived by Fourier analysis and superposition. The influences of gaps and staggers on high-order harmonics and flux density were analyzed, and the optimized design is presented. Compared with the other improved structures based on traditional Halbach magnet arrays, the proposed design has the lowest high-order harmonics percentage, and the characteristics of flux density meet the demand of high acceleration in horizontal directions. It is also lightweight and easy to manufacture. The proposed magnet array was built, and the calculation results have been verified with experiment. PMID:29300323

Analysis of 3-D effects in segmented cylindrical quasi-Halbach magnet arrays

NARCIS (Netherlands)

Meessen, K.J.; Paulides, J.J.H.; Lomonova, E.

2011-01-01

To improve the performance of permanent magnet (PM) machines, quasi-Halbach PM arrays are used to increase the magnetic loading in these machines. In tubular PM actuators, these arrays are often approximated using segmented magnets resulting in a 3-D magnetic field effect. This paper describes the

Micro-hole array fluorescent sensor based on AC-Dielectrophoresis (DEP) for simultaneous analysis of nano-molecules

Science.gov (United States)

Kim, Hye Jin; Kang, Dong-Hoon; Lee, Eunji; Hwang, Kyo Seon; Shin, Hyun-Joon; Kim, Jinsik

2018-02-01

We propose a simple fluorescent bio-chip based on two types of alternative current-dielectrophoretic (AC-DEP) force, attractive (positive DEP) and repulsive (negative DEP) force, for simultaneous nano-molecules analysis. Various radius of micro-holes on the bio-chip are designed to apply the different AC-DEP forces, and the nano-molecules are concentrated inside the micro-hole arrays according to the intensity of the DEP force. The bio-chip was fabricated by Micro Electro Mechanical system (MEMS) technique, and was composed of two layers; a SiO2 layer and Ta/Pt layer were accomplished for an insulation layer and a top electrode with micro-hole arrays to apply electric fields for DEP force, respectively. Each SiO2 and Ta/Pt layers were deposited by thermal oxidation and sputtering, and micro-hole arrays were fabricated with Inductively Coupled Plasma (ICP) etching process. For generation of each positive and negative DEP at micro-holes, we applied two types of sine-wave AC voltage with different frequency range alternately. The intensity of the DEP force was controlled by the radius of the micro-hole and size of nano-molecule, and calculated with COMSOL multi-physics. Three types of nano-molecules labelled with different fluorescent dye were used and the intensity of nano-molecules was examined by the fluorescent optical analysis after applying the DEP force. By analyzing the fluorescent intensities of the nano-molecules, we verify the various nano-molecules in analyte are located successfully inside corresponding micro-holes with different radius according to their size.

Application of neural networks to digital pulse shape analysis for an array of silicon strip detectors

Energy Technology Data Exchange (ETDEWEB)

Flores, J.L. [Dpto de Ingeniería Eléctrica y Térmica, Universidad de Huelva (Spain); Martel, I. [Dpto de Física Aplicada, Universidad de Huelva (Spain); CERN, ISOLDE, CH 1211 Geneva, 23 (Switzerland); Jiménez, R. [Dpto de Ingeniería Electrónica, Sist. Informáticos y Automática, Universidad de Huelva (Spain); Galán, J., E-mail: jgalan@diesia.uhu.es [Dpto de Ingeniería Electrónica, Sist. Informáticos y Automática, Universidad de Huelva (Spain); Salmerón, P. [Dpto de Ingeniería Eléctrica y Térmica, Universidad de Huelva (Spain)

2016-09-11

The new generation of nuclear physics detectors that used to study nuclear reactions is considering the use of digital pulse shape analysis techniques (DPSA) to obtain the (A,Z) values of the reaction products impinging in solid state detectors. This technique can be an important tool for selecting the relevant reaction channels at the HYDE (HYbrid DEtector ball array) silicon array foreseen for the Low Energy Branch of the FAIR facility (Darmstadt, Germany). In this work we study the feasibility of using artificial neural networks (ANNs) for particle identification with silicon detectors. Multilayer Perceptron networks were trained and tested with recent experimental data, showing excellent identification capabilities with signals of several isotopes ranging from {sup 12}C up to {sup 84}Kr, yielding higher discrimination rates than any other previously reported.

Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

Directory of Open Access Journals (Sweden)

Marina Laplana

2014-01-01

Full Text Available Autism spectrum disorder (ASD is a highly heritable disease (~0.9 with a complex genetic etiology. It is initially characterized by altered cognitive ability which commonly includes impaired language and communication skills as well as fundamental deficits in social interaction. Despite the large amount of studies described so far, the high clinical diversity affecting the autism phenotype remains poorly explained. Recent studies suggest that rare genomic variations, in particular copy number variation (CNV, may account for a significant proportion of the genetic basis of ASD. The use of disease-discordant monozygotic twins represents a powerful strategy to identify de novo and inherited CNV in the disorder. Here we present the results of a comparative genome hybridization (CGH analysis with a pair of monozygotic twins affected of ASD with significant differences in their clinical manifestations that specially affect speech language impairment and communication skills. Array CGH was performed in three different tissues: blood, saliva, and hair follicle, in an attempt to identify germinal and somatic CNV regions that may explain these differences. Our results argue against a role of large CNV rearrangements as a molecular etiology of the observed differences. This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences.

Power balance and loss mechanism analysis in RF transmit coil arrays.

Science.gov (United States)

Kuehne, Andre; Goluch, Sigrun; Waxmann, Patrick; Seifert, Frank; Ittermann, Bernd; Moser, Ewald; Laistler, Elmar

2015-10-01

To establish a framework for transmit array power balance calculations based on power correlation matrices to accurately quantify the loss contributions from different mechanisms such as coupling, lumped components, and radiation. Starting from Poynting's theorem, power correlation matrices are derived for all terms in the power balance, which is formulated as a matrix equation. Finite-difference time-domain simulations of two 7 T eight-channel head array coils at 297.2 MHz are used to verify the theoretical considerations and demonstrate their application. Care is taken to accurately incorporate all loss mechanisms. The power balance for static B1 phase shims as well as two-dimensional spatially selective transmit SENSE pulses is shown. The simulated power balance shows an excellent agreement with theory, with a maximum power imbalance of less than 0.11%. Power loss contributions from the different loss mechanisms vary significantly between the investigated setups, and depending on the excitation mode imposed on the coil. The presented approach enables a straightforward loss evaluation for an arbitrary excitation of transmit coil arrays. Worst-case power imbalance and losses are calculated in a straightforward manner. This allows for deeper insight into transmit array loss mechanisms, incorporation of radiated power components in specific absorption rate calculations and verification of electromagnetic simulations. © 2014 Wiley Periodicals, Inc.

A novel method to design sparse linear arrays for ultrasonic phased array.

Science.gov (United States)

Yang, Ping; Chen, Bin; Shi, Ke-Ren

2006-12-22

In ultrasonic phased array testing, a sparse array can increase the resolution by enlarging the aperture without adding system complexity. Designing a sparse array involves choosing the best or a better configuration from a large number of candidate arrays. We firstly designed sparse arrays by using a genetic algorithm, but found that the arrays have poor performance and poor consistency. So, a method based on the Minimum Redundancy Linear Array was then adopted. Some elements are determined by the minimum-redundancy array firstly in order to ensure spatial resolution and then a genetic algorithm is used to optimize the remaining elements. Sparse arrays designed by this method have much better performance and consistency compared to the arrays designed only by a genetic algorithm. Both simulation and experiment confirm the effectiveness.

Efficient oligonucleotide probe selection for pan-genomic tiling arrays

Directory of Open Access Journals (Sweden)

Zhang Wei

2009-09-01

Full Text Available Abstract Background Array comparative genomic hybridization is a fast and cost-effective method for detecting, genotyping, and comparing the genomic sequence of unknown bacterial isolates. This method, as with all microarray applications, requires adequate coverage of probes targeting the regions of interest. An unbiased tiling of probes across the entire length of the genome is the most flexible design approach. However, such a whole-genome tiling requires that the genome sequence is known in advance. For the accurate analysis of uncharacterized bacteria, an array must query a fully representative set of sequences from the species' pan-genome. Prior microarrays have included only a single strain per array or the conserved sequences of gene families. These arrays omit potentially important genes and sequence variants from the pan-genome. Results This paper presents a new probe selection algorithm (PanArray that can tile multiple whole genomes using a minimal number of probes. Unlike arrays built on clustered gene families, PanArray uses an unbiased, probe-centric approach that does not rely on annotations, gene clustering, or multi-alignments. Instead, probes are evenly tiled across all sequences of the pan-genome at a consistent level of coverage. To minimize the required number of probes, probes conserved across multiple strains in the pan-genome are selected first, and additional probes are used only where necessary to span polymorphic regions of the genome. The viability of the algorithm is demonstrated by array designs for seven different bacterial pan-genomes and, in particular, the design of a 385,000 probe array that fully tiles the genomes of 20 different Listeria monocytogenes strains with overlapping probes at greater than twofold coverage. Conclusion PanArray is an oligonucleotide probe selection algorithm for tiling multiple genome sequences using a minimal number of probes. It is capable of fully tiling all genomes of a species on

[Clinical genealogical and molecular genetic study of patients with mental retardation].

Science.gov (United States)

Hryshchenko, N V; B'ichkova, A M; Lyvshyts, A B; Kravchenko, S A; Pampukha, V N; Solov'ev, A A; Kucherenko, A M; Tatarskiĭ, P F; Afanas'eva, N A; Dubrovskaia, E V; Patskun, Ie Y; Zymak-Zakutnaia, N O; Nykytchina, T V; Lohysh, S Iu; Lyvshyts, L A

2012-01-01

The results of clinical, genealogical, cytogenetic and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the 7-th Framework Program. The aim of the project is to improve diagnostics of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and gene's aberrations and to find the new gene-candidates that cause mental retardation. All patients have normal chromosome number (46XY or 46XX). The cases with fragile-X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA analysis) ofsubtelomeric regions and array-based comparative genomic hybridisation (array CGH screening). In 10 cases known pathogenic CNV's were identified, 11 cases are unknown aberrations; their pathogenicity is being determined. The rest cases are known nonpathogenic gene rearrangements. Obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation. The further studies will allow to identificate genes candidates and certain mutations in these genes that may be associated with this pathology.

Design and array signal suggestion of array type pulsed eddy current probe for health monitoring of metal tubes

Energy Technology Data Exchange (ETDEWEB)

Shin, Young Kil [Dept. of Electrical Engineering, Kunsan National University, Kunsan (Korea, Republic of)

2015-10-15

An array type probe for monitoring metal tubes is proposed in this paper which utilizes peak value and peak time of a pulsed eddy current(PEC) signal. The probe consists of an array of encircling coils along a tube and the outside of coils is shielded by ferrite to prevent source magnetic fields from directly affecting sensor signals since it is the magnetic fields produced by eddy currents that reflect the condition of metal tubes. The positions of both exciter and sensor coils are consecutively moved automatically so that manual scanning is not necessary. At one position of send-receive coils, peak value and peak time are extracted from a sensor PEC signal and these data are accumulated for all positions to form an array type peak value signal and an array type peak time signal. Numerical simulation was performed using the backward difference method in time and the finite element method for spatial analysis. Simulation results showed that peak value increases and the peak appears earlier as the defect depth or length increases. The proposed array signals are shown to be excellent in reflecting the defect location as well as variations of defect depth and length within the array probe.

Space solar array reliability: A study and recommendations

Science.gov (United States)

Brandhorst, Henry W., Jr.; Rodiek, Julie A.

2008-12-01

Providing reliable power over the anticipated mission life is critical to all satellites; therefore solar arrays are one of the most vital links to satellite mission success. Furthermore, solar arrays are exposed to the harshest environment of virtually any satellite component. In the past 10 years 117 satellite solar array anomalies have been recorded with 12 resulting in total satellite failure. Through an in-depth analysis of satellite anomalies listed in the Airclaim's Ascend SpaceTrak database, it is clear that solar array reliability is a serious, industry-wide issue. Solar array reliability directly affects the cost of future satellites through increased insurance premiums and a lack of confidence by investors. Recommendations for improving reliability through careful ground testing, standardization of testing procedures such as the emerging AIAA standards, and data sharing across the industry will be discussed. The benefits of creating a certified module and array testing facility that would certify in-space reliability will also be briefly examined. Solar array reliability is an issue that must be addressed to both reduce costs and ensure continued viability of the commercial and government assets on orbit.

CFD Analysis of a Finite Linear Array of Savonius Wind Turbines

Science.gov (United States)

Belkacem, Belabes; Paraschivoiu, Marius

2016-09-01

Vertical axis wind turbines such as Savonius rotors have been shown to be suitable for low wind speeds normally associated with wind resources in all corners of the world. However, the efficiency of the rotor is low. This paper presents results of Computational Fluid Dynamics (CFD) simulations for an array of Savonius rotors that show a significant increase in efficiency. It looks at identifying the effect on the energy yield of a number of turbines placed in a linear array. Results from this investigation suggest that an increase in the energy yield could be achieved which can reach almost two times than the conventional Savonius wind turbine in the case of an array of 11turbines with a distance of 1.4R in between them. The effect of different TSR values and different wind inlet speeds on the farm has been studied for both a synchronous and asynchronous wind farm.

Chromosomal Localization of DNA Amplifications in Neuroblastoma Tumors Using cDNA Microarray Comparative Genomic Hybridization

Directory of Open Access Journals (Sweden)

Ben Beheshti

2003-01-01

Full Text Available Conventional comparative genomic hybridization (CGH profiling of neuroblastomas has identified many genomic aberrations, although the limited resolution has precluded a precise localization of sequences of interest within amplicons. To map high copy number genomic gains in clinically matched stage IV neuroblastomas, CGH analysis using a 19,200-feature cDNA microarray was used. A dedicated (freely available algorithm was developed for rapid in silico determination of chromosomal localizations of microarray cDNA targets, and for generation of an ideogram-type profile of copy number changes. Using these methodologies, novel gene amplifications undetectable by chromosome CGH were identified, and larger MYCN amplicon sizes (in one tumor up to 6 Mb than those previously reported in neuroblastoma were identified. The genes HPCAL1, LPIN1/KIAA0188, NAG, and NSE1/LOC151354 were found to be coamplified with MYCN. To determine whether stage IV primary tumors could be further subclassified based on their genomic copy number profiles, hierarchical clustering was performed. Cluster analysis of microarray CGH data identified three groups: 1 no amplifications evident, 2 a small MYCN amplicon as the only detectable imbalance, and 3 a large MYCN amplicon with additional gene amplifications. Application of CGH to cDNA microarray targets will help to determine both the variation of amplicon size and help better define amplification-dependent and independent pathways of progression in neuroblastoma.

Genetic profiles of gastroesophageal cancer: combined analysis using expression array and tiling array--comparative genomic hybridization

DEFF Research Database (Denmark)

Isinger-Ekstrand, Anna; Johansson, Jan; Ohlsson, Mattias

2010-01-01

15, 13q34, and 12q13, whereas different profiles with gains at 5p15, 7p22, 2q35, and 13q34 characterized gastric cancers. CDK6 and EGFR were identified as putative target genes in cancers of the esophagus and the gastroesophageal junction, with upregulation in one quarter of the tumors. Gains......We aimed to characterize the genomic profiles of adenocarcinomas in the gastroesophageal junction in relation to cancers in the esophagus and the stomach. Profiles of gains/losses as well as gene expression profiles were obtained from 27 gastroesophageal adenocarcinomas by means of 32k high......-resolution array-based comparative genomic hybridization and 27k oligo gene expression arrays, and putative target genes were validated in an extended series. Adenocarcinomas in the distal esophagus and the gastroesophageal junction showed strong similarities with the most common gains at 20q13, 8q24, 1q21-23, 5p...

DNA-barcode directed capture and electrochemical metabolic analysis of single mammalian cells on a microelectrode array.

Science.gov (United States)

Douglas, Erik S; Hsiao, Sonny C; Onoe, Hiroaki; Bertozzi, Carolyn R; Francis, Matthew B; Mathies, Richard A

2009-07-21

A microdevice is developed for DNA-barcode directed capture of single cells on an array of pH-sensitive microelectrodes for metabolic analysis. Cells are modified with membrane-bound single-stranded DNA, and specific single-cell capture is directed by the complementary strand bound in the sensor area of the iridium oxide pH microelectrodes within a microfluidic channel. This bifunctional microelectrode array is demonstrated for the pH monitoring and differentiation of primary T cells and Jurkat T lymphoma cells. Single Jurkat cells exhibited an extracellular acidification rate of 11 milli-pH min(-1), while primary T cells exhibited only 2 milli-pH min(-1). This system can be used to capture non-adherent cells specifically and to discriminate between visually similar healthy and cancerous cells in a heterogeneous ensemble based on their altered metabolic properties.

Design, fabrication, and calibration of a cryogenic search-coil array for harmonic analysis of quadrupole magnets

International Nuclear Information System (INIS)

Green, M.I.; Barale, P.J.; Hassenzahl, W.V.; Nelson, D.H.; O'Neill, J.W.; Schafer, R.V.; Taylor, C.E.

1987-09-01

A cryogenic search-coil array has been fabricated at LBL for harmonic error analysis of SSC model quadrupoles. It consists of three triplets of coils; the center-coil triplet is 10 cm long, and the end coil triplets are 70 cm long. Design objectives are a high bucking ratio for the dipole and quadrupole signals and utility at cryogenic operating currents (∼6 kA) with sufficient sensitivity for use at room-temperature currents (∼10 A). the design and fabrication are described. Individual coils are mechanically measured to +-5 μm, and their magnetic areas measured to 0.05%. A computer program has been developed to predict the quadrupole and dipole bucking ratios from the mechanical and magnetic measurements. The calibration procedure and accuracy of the array are specified. Results of measurements of SSC model quadrupoles are presented. 1 ref., 4 figs

Fabrication and characterization of CaP-coated nanotube arrays

International Nuclear Information System (INIS)

Kung, Kuan-Chen; Chen, Jia-Ling; Liu, Yen-Ting; Lee, Tzer-Min

2015-01-01

Modified anodization techniques have been shown to improve the biocompatibility of titanium. This study demonstrated the anodic formation of self-organized nanotube arrays on titanium from an electrolyte solution containing 1 M H 3 PO 4 and 1 wt% hydrofluoric acid (HF). Our aim was to investigate the effects of sputter-deposited CaP on nanotube arrays. SEM images revealed a surface with uniform morphology and an average pore diameter of 29 nm. XRD results indicated that the phase of the nanotube arrays was amorphous. Electron spectroscopy for chemical analysis (ESCA) confirmed that the nanotube arrays were coated with calcium and phosphorus. Cell culture experiments using human osteosarcoma (HOS) cells demonstrated that the CaP/nanotube arrays had a pronounced effect on initial cell attachment as well as on the number of cells at 1, 7, and 14 days. Compared to as-polished titanium, the CaP/nanotube arrays accelerated cell proliferation, attachment, and spreading. Our results demonstrate the pronounced effects of CaP/nanotube arrays on the biological responses of HOS cells. - Highlights: • Self-organized nanotube arrays were anodically formed on titanium. • Surfaces of nanotube arrays exhibited uniform morphology and pore size. • According to ESCA results, Ca and P were successfully coated on nanotube arrays. • CaP/nanotube arrays accelerated the attachment and spreading of cells. • CaP/nanotube arrays were shown to affect biological responses of cells

Fabrication and characterization of CaP-coated nanotube arrays

Energy Technology Data Exchange (ETDEWEB)

Kung, Kuan-Chen; Chen, Jia-Ling [Institute of Oral Medicine, National Cheng Kung University, Tainan 701, Taiwan (China); Liu, Yen-Ting [Department of Materials Science and Engineering, National Cheng Kung University, Tainan 701, Taiwan (China); Lee, Tzer-Min, E-mail: tmlee@mail.ncku.edu.tw [Institute of Oral Medicine, National Cheng Kung University, Tainan 701, Taiwan (China); Medical Device Innovation Center, National Cheng Kung University, Tainan 701, Taiwan (China); School of Dentistry, Kaohsiung Medical University, Kaohsiung 807, Taiwan (China)

2015-03-01

Modified anodization techniques have been shown to improve the biocompatibility of titanium. This study demonstrated the anodic formation of self-organized nanotube arrays on titanium from an electrolyte solution containing 1 M H{sub 3}PO{sub 4} and 1 wt% hydrofluoric acid (HF). Our aim was to investigate the effects of sputter-deposited CaP on nanotube arrays. SEM images revealed a surface with uniform morphology and an average pore diameter of 29 nm. XRD results indicated that the phase of the nanotube arrays was amorphous. Electron spectroscopy for chemical analysis (ESCA) confirmed that the nanotube arrays were coated with calcium and phosphorus. Cell culture experiments using human osteosarcoma (HOS) cells demonstrated that the CaP/nanotube arrays had a pronounced effect on initial cell attachment as well as on the number of cells at 1, 7, and 14 days. Compared to as-polished titanium, the CaP/nanotube arrays accelerated cell proliferation, attachment, and spreading. Our results demonstrate the pronounced effects of CaP/nanotube arrays on the biological responses of HOS cells. - Highlights: • Self-organized nanotube arrays were anodically formed on titanium. • Surfaces of nanotube arrays exhibited uniform morphology and pore size. • According to ESCA results, Ca and P were successfully coated on nanotube arrays. • CaP/nanotube arrays accelerated the attachment and spreading of cells. • CaP/nanotube arrays were shown to affect biological responses of cells.

THE MURCHISON WIDEFIELD ARRAY 21 cm POWER SPECTRUM ANALYSIS METHODOLOGY

Energy Technology Data Exchange (ETDEWEB)

Jacobs, Daniel C.; Beardsley, A. P.; Bowman, Judd D. [Arizona State University, School of Earth and Space Exploration, Tempe, AZ 85287 (United States); Hazelton, B. J.; Sullivan, I. S.; Barry, N.; Carroll, P. [University of Washington, Department of Physics, Seattle, WA 98195 (United States); Trott, C. M.; Pindor, B.; Briggs, F.; Gaensler, B. M. [ARC Centre of Excellence for All-sky Astrophysics (CAASTRO) (Australia); Dillon, Joshua S.; Oliveira-Costa, A. de; Ewall-Wice, A.; Feng, L. [MIT Kavli Institute for Astrophysics and Space Research, Cambridge, MA 02139 (United States); Pober, J. C. [Brown University, Department of Physics, Providence, RI 02912 (United States); Bernardi, G. [Department of Physics and Electronics, Rhodes University, Grahamstown 6140 (South Africa); Cappallo, R. J.; Corey, B. E. [MIT Haystack Observatory, Westford, MA 01886 (United States); Emrich, D., E-mail: daniel.c.jacobs@asu.edu [International Centre for Radio Astronomy Research, Curtin University, Perth, WA 6845 (Australia); and others

2016-07-10

We present the 21 cm power spectrum analysis approach of the Murchison Widefield Array Epoch of Reionization project. In this paper, we compare the outputs of multiple pipelines for the purpose of validating statistical limits cosmological hydrogen at redshifts between 6 and 12. Multiple independent data calibration and reduction pipelines are used to make power spectrum limits on a fiducial night of data. Comparing the outputs of imaging and power spectrum stages highlights differences in calibration, foreground subtraction, and power spectrum calculation. The power spectra found using these different methods span a space defined by the various tradeoffs between speed, accuracy, and systematic control. Lessons learned from comparing the pipelines range from the algorithmic to the prosaically mundane; all demonstrate the many pitfalls of neglecting reproducibility. We briefly discuss the way these different methods attempt to handle the question of evaluating a significant detection in the presence of foregrounds.

Analysis of X-ray iron and nickel radiation and jets from planar wire arrays and X-pinches

International Nuclear Information System (INIS)

Safronova, A S; Kantsyrev, V L; Esaulov, A A; Ouart, N D; Shlyaptseva, V; Williamson, K M; Shrestha, I; Osborne, G C; Weller, M E

2010-01-01

University-scale Z-pinch devices are able to produce plasmas with a broad range of sizes, temperatures, densities, their gradients, and opacity properties. Radiative properties of such plasmas depend on material, mass, and configuration of the wire array loads. Experiments with two different types of loads, double planar wire arrays (DPWA) and X-pinches, performed on the 1 MA Zebra generator at UNR are analyzed. X-pinches are made from Stainless Steel (69% Fe, 20% Cr, and 9% Ni) wires. Combined DPWAs consist of one plane from SS wires and another plane from Alumel (95% Ni, 2% Al, 2% Si) wires. The main focus of this work is on the analysis of plasma jets at the early phase of plasma formation and the K-and L-shell radiation generation at the implosion and stagnation phases in experiments with the two aforementioned wire loads. The relevant theoretical tools that guide the data analysis include non-LTE collisional-radiative and wire ablation dynamics models. The astrophysical relevance of the plasma jets as well as of spectroscopic and imaging studies are demonstrated.

Benchmark Evaluation of Plutonium Nitrate Solution Arrays

International Nuclear Information System (INIS)

Marshall, M.A.; Bess, J.D.

2011-01-01

In October and November of 1981 thirteen approach-to-critical experiments were performed on a remote split table machine (RSTM) in the Critical Mass Laboratory of Pacific Northwest Laboratory (PNL) in Richland, Washington, using planar arrays of polyethylene bottles filled with plutonium (Pu) nitrate solution. Arrays of up to sixteen bottles were used to measure the critical number of bottles and critical array spacing with a tight fitting Plexiglas(reg s ign) reflector on all sides of the arrays except the top. Some experiments used Plexiglas shells fitted around each bottles to determine the effect of moderation on criticality. Each bottle contained approximately 2.4 L of Pu(NO3)4 solution with a Pu content of 105 g Pu/L and a free acid molarity H+ of 5.1. The plutonium was of low 240Pu (2.9 wt.%) content. These experiments were performed to fill a gap in experimental data regarding criticality limits for storing and handling arrays of Pu solution in reprocessing facilities. Of the thirteen approach-to-critical experiments eleven resulted in extrapolations to critical configurations. Four of the approaches were extrapolated to the critical number of bottles; these were not evaluated further due to the large uncertainty associated with the modeling of a fraction of a bottle. The remaining seven approaches were extrapolated to critical array spacing of 3-4 and 4-4 arrays; these seven critical configurations were evaluation for inclusion as acceptable benchmark experiments in the International Criticality Safety Benchmark Evaluation Project (ICSBEP) Handbook. Detailed and simple models of these configurations were created and the associated bias of these simplifications was determined to range from 0.00116 and 0.00162 ± 0.00006 ?keff. Monte Carlo analysis of all models was completed using MCNP5 with ENDF/BVII.0 neutron cross section libraries. A thorough uncertainty analysis of all critical, geometric, and material parameters was performed using parameter

Flat-plate solar array project. Volume 8: Project analysis and integration

Science.gov (United States)

Mcguire, P.; Henry, P.

1986-01-01

Project Analysis and Integration (PA&I) performed planning and integration activities to support management of the various Flat-Plate Solar Array (FSA) Project R&D activities. Technical and economic goals were established by PA&I for each R&D task within the project to coordinate the thrust toward the National Photovoltaic Program goals. A sophisticated computer modeling capability was developed to assess technical progress toward meeting the economic goals. These models included a manufacturing facility simulation, a photovoltaic power station simulation and a decision aid model incorporating uncertainty. This family of analysis tools was used to track the progress of the technology and to explore the effects of alternative technical paths. Numerous studies conducted by PA&I signaled the achievement of milestones or were the foundation of major FSA project and national program decisions. The most important PA&I activities during the project history are summarized. The PA&I planning function is discussed and how it relates to project direction and important analytical models developed by PA&I for its analytical and assessment activities are reviewed.

SU-F-T-458: Tracking Trends of TG-142 Parameters Via Analysis of Data Recorded by 2D Chamber Array

Energy Technology Data Exchange (ETDEWEB)

Alexandrian, A; Kabat, C; Defoor, D; Saenz, D; Rasmussen, K; Kirby, N; Gutierrez, A; Papanikolaou, N; Stathakis, S [University of Texas HSC SA, San Antonio, TX (United States)

2016-06-15

Purpose: With increasing QA demands of medical physicists in clinical radiation oncology, the need for an effective method of tracking clinical data has become paramount. A tool was produced which scans through data automatically recorded by a 2D chamber array and extracts relevant information recommended by TG-142. Using this extracted information a timely and comprehensive analysis of QA parameters can be easily performed enabling efficient monthly checks on multiple linear accelerators simultaneously. Methods: A PTW STARCHECK chamber array was used to record several months of beam outputs from two Varian 2100 series linear accelerators and a Varian NovalisTx−. In conjunction with the chamber array, a beam quality phantom was used to simultaneously to determine beam quality. A minimalist GUI was created in MatLab that allows a user to set the file path of the data for each modality to be analyzed. These file paths are recorded to a MatLab structure and then subsequently accessed by a script written in Python (version 3.5.1) which then extracts values required to perform monthly checks as outlined by recommendations from TG-142. The script incorporates calculations to determine if the values recorded by the chamber array fall within an acceptable threshold. Results: Values obtained by the script are written to a spreadsheet where results can be easily viewed and annotated with a “pass” or “fail” and saved for further analysis. In addition to creating a new scheme for reviewing monthly checks, this application allows for able to succinctly store data for follow up analysis. Conclusion: By utilizing this tool, parameters recommended by TG-142 for multiple linear accelerators can be rapidly obtained and analyzed which can be used for evaluation of monthly checks.

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

Science.gov (United States)

Cuscó, Ivon; Medrano, Andrés; Gener, Blanca; Vilardell, Mireia; Gallastegui, Fátima; Villa, Olaya; González, Eva; Rodríguez-Santiago, Benjamín; Vilella, Elisabet; Del Campo, Miguel; Pérez-Jurado, Luis A

2009-05-15

Autism spectrum disorders (ASDs) constitute a group of severe neurodevelopmental conditions with complex multifactorial etiology. In order to explore the hypothesis that submicroscopic genomic rearrangements underlie some ASD cases, we have analyzed 96 Spanish patients with idiopathic ASD after extensive clinical and laboratory screening, by array comparative genomic hybridization (aCGH) using a homemade bacterial artificial chromosome (BAC) array. Only 13 of the 238 detected copy number alterations, ranging in size from 89 kb to 2.4 Mb, were present specifically in the autistic population (12 out of 96 individuals, 12.5%). Following validation by additional molecular techniques, we have characterized these novel candidate regions containing 24 different genes including alterations in two previously reported regions of chromosome 7 associated with the ASD phenotype. Some of the genes located in ASD-specific copy number variants act in common pathways, most notably the phosphatidylinositol signaling and the glutamatergic synapse, both known to be affected in several genetic syndromes related with autism and previously associated with ASD. Our work supports the idea that the functional alteration of genes in related neuronal networks is involved in the etiology of the ASD phenotype and confirms a significant diagnostic yield for aCGH, which should probably be included in the diagnostic workup of idiopathic ASD.

Novel mouse model recapitulates genome and transcriptome alterations in human colorectal carcinomas.

Science.gov (United States)

McNeil, Nicole E; Padilla-Nash, Hesed M; Buishand, Floryne O; Hue, Yue; Ried, Thomas

2017-03-01

Human colorectal carcinomas are defined by a nonrandom distribution of genomic imbalances that are characteristic for this disease. Often, these imbalances affect entire chromosomes. Understanding the role of these aneuploidies for carcinogenesis is of utmost importance. Currently, established transgenic mice do not recapitulate the pathognonomic genome aberration profile of human colorectal carcinomas. We have developed a novel model based on the spontaneous transformation of murine colon epithelial cells. During this process, cells progress through stages of pre-immortalization, immortalization and, finally, transformation, and result in tumors when injected into immunocompromised mice. We analyzed our model for genome and transcriptome alterations using ArrayCGH, spectral karyotyping (SKY), and array based gene expression profiling. ArrayCGH revealed a recurrent pattern of genomic imbalances. These results were confirmed by SKY. Comparing these imbalances with orthologous maps of human chromosomes revealed a remarkable overlap. We observed focal deletions of the tumor suppressor genes Trp53 and Cdkn2a/p16. High-level focal genomic amplification included the locus harboring the oncogene Mdm2, which was confirmed by FISH in the form of double minute chromosomes. Array-based global gene expression revealed distinct differences between the sequential steps of spontaneous transformation. Gene expression changes showed significant similarities with human colorectal carcinomas. Pathways most prominently affected included genes involved in chromosomal instability and in epithelial to mesenchymal transition. Our novel mouse model therefore recapitulates the most prominent genome and transcriptome alterations in human colorectal cancer, and might serve as a valuable tool for understanding the dynamic process of tumorigenesis, and for preclinical drug testing. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

CFD Analysis of a Finite Linear Array of Savonius Wind Turbines

International Nuclear Information System (INIS)

Belkacem, Belabes; Paraschivoiu, Marius

2016-01-01

Vertical axis wind turbines such as Savonius rotors have been shown to be suitable for low wind speeds normally associated with wind resources in all corners of the world. However, the efficiency of the rotor is low. This paper presents results of Computational Fluid Dynamics (CFD) simulations for an array of Savonius rotors that show a significant increase in efficiency. It looks at identifying the effect on the energy yield of a number of turbines placed in a linear array. Results from this investigation suggest that an increase in the energy yield could be achieved which can reach almost two times than the conventional Savonius wind turbine in the case of an array of 11turbines with a distance of 1.4R in between them. The effect of different TSR values and different wind inlet speeds on the farm has been studied for both a synchronous and asynchronous wind farm. (paper)

Synthesis and characterization of Mn-doped ZnO column arrays

International Nuclear Information System (INIS)

Yang Mei; Guo Zhixing; Qiu Kehui; Long Jianping; Yin Guangfu; Guan Denggao; Liu Sutian; Zhou Shijie

2010-01-01

Mn-doped ZnO column arrays were successfully synthesized by conventional sol-gel process. Effect of Mn/Zn atomic ratio and reaction time were investigated, and the morphology, tropism and optical properties of Mn-doped ZnO column arrays were characterized by SEM, XRD and photoluminescence (PL) spectroscopy. The result shows that a Mn/Zn atomic ratio of 0.1 and growth time of 12 h are the optimal condition for the preparation of densely distributed ZnO column arrays. XRD analysis shows that Mn-doped ZnO column arrays are highly c-axis oriented. As for Mn-doped ZnO column arrays, obvious increase of photoluminescence intensity is observed at the wavelength of ∼395 nm and ∼413 nm, compared to pure ZnO column arrays.

Coupling in reflector arrays

DEFF Research Database (Denmark)

Appel-Hansen, Jørgen

1968-01-01

In order to reduce the space occupied by a reflector array, it is desirable to arrange the array antennas as close to each other as possible; however, in this case coupling between the array antennas will reduce the reflecting properties of the reflector array. The purpose of the present communic......In order to reduce the space occupied by a reflector array, it is desirable to arrange the array antennas as close to each other as possible; however, in this case coupling between the array antennas will reduce the reflecting properties of the reflector array. The purpose of the present...

Tilted hexagonal post arrays: DNA electrophoresis in anisotropic media.

Science.gov (United States)

Chen, Zhen; Dorfman, Kevin D

2014-02-01

Using Brownian dynamics simulations, we show that DNA electrophoresis in a hexagonal array of micron-sized posts changes qualitatively when the applied electric field vector is not coincident with the lattice vectors of the array. DNA electrophoresis in such "tilted" post arrays is superior to the standard "un-tilted" approach; while the time required to achieve a resolution of unity in a tilted post array is similar to an un-tilted array at a low-electric field strengths, this time (i) decreases exponentially with electric field strength in a tilted array and (ii) increases exponentially with electric field strength in an un-tilted array. Although the DNA dynamics in a post array are complicated, the electrophoretic mobility results indicate that the "free path," i.e. the average distance of ballistic trajectories of point-sized particles launched from random positions in the unit cell until they intersect the next post, is a useful proxy for the detailed DNA trajectories. The analysis of the free path reveals a fundamental connection between anisotropy of the medium and DNA transport therein that goes beyond simply improving the separation device. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.

Fiber array based hyperspectral Raman imaging for chemical selective analysis of malaria-infected red blood cells

Energy Technology Data Exchange (ETDEWEB)

Brückner, Michael [Leibniz Institute of Photonic Technology, 07745 Jena (Germany); Becker, Katja [Justus Liebig University Giessen, Biochemistry and Molecular Biology, 35392 Giessen (Germany); Popp, Jürgen [Leibniz Institute of Photonic Technology, 07745 Jena (Germany); Friedrich Schiller University Jena, Institute for Physical Chemistry, 07745 Jena (Germany); Friedrich Schiller University Jena, Abbe Centre of Photonics, 07745 Jena (Germany); Frosch, Torsten, E-mail: torsten.frosch@uni-jena.de [Leibniz Institute of Photonic Technology, 07745 Jena (Germany); Friedrich Schiller University Jena, Institute for Physical Chemistry, 07745 Jena (Germany); Friedrich Schiller University Jena, Abbe Centre of Photonics, 07745 Jena (Germany)

2015-09-24

A new setup for Raman spectroscopic wide-field imaging is presented. It combines the advantages of a fiber array based spectral translator with a tailor-made laser illumination system for high-quality Raman chemical imaging of sensitive biological samples. The Gaussian-like intensity distribution of the illuminating laser beam is shaped by a square-core optical multimode fiber to a top-hat profile with very homogeneous intensity distribution to fulfill the conditions of Koehler. The 30 m long optical fiber and an additional vibrator efficiently destroy the polarization and coherence of the illuminating light. This homogeneous, incoherent illumination is an essential prerequisite for stable quantitative imaging of complex biological samples. The fiber array translates the two-dimensional lateral information of the Raman stray light into separated spectral channels with very high contrast. The Raman image can be correlated with a corresponding white light microscopic image of the sample. The new setup enables simultaneous quantification of all Raman spectra across the whole spatial area with very good spectral resolution and thus outperforms other Raman imaging approaches based on scanning and tunable filters. The unique capabilities of the setup for fast, gentle, sensitive, and selective chemical imaging of biological samples were applied for automated hemozoin analysis. A special algorithm was developed to generate Raman images based on the hemozoin distribution in red blood cells without any influence from other Raman scattering. The new imaging setup in combination with the robust algorithm provides a novel, elegant way for chemical selective analysis of the malaria pigment hemozoin in early ring stages of Plasmodium falciparum infected erythrocytes. - Highlights: • Raman hyperspectral imaging allows for chemical selective analysis of biological samples with spatial heterogeneity. • A homogeneous, incoherent illumination is essential for reliable

Fiber array based hyperspectral Raman imaging for chemical selective analysis of malaria-infected red blood cells

International Nuclear Information System (INIS)

Brückner, Michael; Becker, Katja; Popp, Jürgen; Frosch, Torsten

2015-01-01

A new setup for Raman spectroscopic wide-field imaging is presented. It combines the advantages of a fiber array based spectral translator with a tailor-made laser illumination system for high-quality Raman chemical imaging of sensitive biological samples. The Gaussian-like intensity distribution of the illuminating laser beam is shaped by a square-core optical multimode fiber to a top-hat profile with very homogeneous intensity distribution to fulfill the conditions of Koehler. The 30 m long optical fiber and an additional vibrator efficiently destroy the polarization and coherence of the illuminating light. This homogeneous, incoherent illumination is an essential prerequisite for stable quantitative imaging of complex biological samples. The fiber array translates the two-dimensional lateral information of the Raman stray light into separated spectral channels with very high contrast. The Raman image can be correlated with a corresponding white light microscopic image of the sample. The new setup enables simultaneous quantification of all Raman spectra across the whole spatial area with very good spectral resolution and thus outperforms other Raman imaging approaches based on scanning and tunable filters. The unique capabilities of the setup for fast, gentle, sensitive, and selective chemical imaging of biological samples were applied for automated hemozoin analysis. A special algorithm was developed to generate Raman images based on the hemozoin distribution in red blood cells without any influence from other Raman scattering. The new imaging setup in combination with the robust algorithm provides a novel, elegant way for chemical selective analysis of the malaria pigment hemozoin in early ring stages of Plasmodium falciparum infected erythrocytes. - Highlights: • Raman hyperspectral imaging allows for chemical selective analysis of biological samples with spatial heterogeneity. • A homogeneous, incoherent illumination is essential for reliable

Report for Development of a Census Array and Evaluation of the Array to Detect Biothreat Agents and Environmental Samples for DHS

Energy Technology Data Exchange (ETDEWEB)

Jaing, C; Jackson, P

2011-04-14

The objective of this project is to provide DHS a comprehensive evaluation of the current genomic technologies including genotyping, Taqman PCR, multiple locus variable tandem repeat analysis (MLVA), microarray and high-throughput DNA sequencing in the analysis of biothreat agents from complex environmental samples. This report focuses on the design, testing and results of samples on the Census Array. We designed a Census/Detection Array to detect all sequenced viruses (including phage), bacteria (eubacteria), and plasmids. Family-specific probes were selected for all sequenced viral and bacterial complete genomes, segments, and plasmids. Probes were designed to tolerate some sequence variation to enable detection of divergent species with homology to sequenced organisms, and to be unique relative to the human genome. A combination of 'detection' probes with high levels of conservation within a family plus 'census' probes targeting strain/isolate specific regions enabled detection and taxonomic classification from the level of family down to the strain. The array has wider coverage of bacterial and viral targets based on more recent sequence data and more probes per target than other microbial detection/discovery arrays in the literature. We tested the array with purified bacterial and viral DNA/RNA samples, artificial mixes of known bacterial/viral samples, spiked DNA against complex background including BW aerosol samples and soil samples, and environmental samples to evaluate the array's sensitivity and forensic capability. The data were analyzed using our novel maximum likelihood software. For most of the organisms tested, we have achieved at least species level discrimination.

Celebrating 10 Years of Delivering EarthScope USArray Transportable Array Data from the Array Network Facility (ANF)

Science.gov (United States)

Eakins, J. A.; Vernon, F.; Astiz, L.; Davis, G. A.; Reyes, J. C.; Martynov, V. G.; Tytell, J.; Cox, T. A.; Meyer, J.

2013-12-01

Since 2004, the Array Network Facility (ANF) has been responsible for generation and delivery of the metadata as well as collection and initial quality control and the transmission of the seismic, and more recently infrasound and meteorological data, for the Earthscope USArray Transportable Array. As of August 2013, we have managed data from over 1600 stations. Personnel at the ANF provide immediate eyes on the data to improve quality control as well as interact with the individual stations via calibrations, mass recentering, baler data retrieval and event analysis. Web-based tools have been developed, and rewritten over the years, to serve the needs of both station engineers and the public. Many lessons on the needs for scalability have been learned. Analysts continue to review all seismic events recorded on 7 or more TA stations making associations against externally available bulletins and/or generating ANF authored locations which are available at both the ANF and IRIS-DMC. The US Array pressure data have several unique characteristics that are allowing us to conduct a rigorous analysis of the spatio-temporal variations in the pressure field on time scales of less than an hour across the eastern United States. With the installation of the infrasound and atmospheric pressure sensors, starting in 2010, observations of gust fronts, near misses of tornados at individual stations, and of the mesoscale gravity waves showing the value and utility of the US Array pressure data will be presented.

Tectonic Tremor analysis with the Taiwan Chelungpu-Fault Drilling Program (TCDP) downhole seismometer array

Science.gov (United States)

Lin, Y.; Hillers, G.; Ma, K.; Campillo, M.

2011-12-01

We study tectonic tremor activity in the Taichung area, Taiwan, analyzing continuous seismic records from 6 short-period sensors of the TCDP borehole array situated around 1 km depth. The low background noise level facilitates the detection of low-amplitude tectonic tremor and low-frequency earthquake (LFE) waveforms. We apply a hierarchical analysis to first detect transient amplitude increases, and to subsequently verify its tectonic origin, i.e. to associate it with tremor signals. The frequency content of tremor usually exceeds the background noise around 2-8 Hz; hence, in the first step, we use BHS1, BHS4 and BHS7 (top, center, bottom sensor) records to detect amplitude anomalies in this frequency range. We calculate the smoothed spectra of 30 second non-overlapping windows taken daily from 5 night time hours to avoid increased day time amplitudes associated with cultural activities. Amplitude detection is then performed on frequency dependent median values of 5 minute advancing, 10 minute long time windows, yielding a series of threshold dependent increased-energy spectra-envelopes, indicating teleseismic waveforms, potential tremor records, or other transients related to anthropogenic or natural sources. To verify the transients' tectonic origin, potential tremor waveforms detected by the amplitude method are manually picked in the time domain. We apply the Brown et al. (2008) LFE matched filter technique to three-component data from the 6 available sensors. Initial few-second templates are taken from the analyst-picked, minute-long segments, and correlated component-wise with 24-h data. Significantly increased similarity between templates and matched waveform segments is detected using the array-average 7-fold MAD measure. Harvested waveforms associated with this initial `weak' detection are stacked, and the thus created master templates are used in an iterative correlation procedure to arrive at robust LFE detections. The increased similarity of waveforms

CRISPRDetect: A flexible algorithm to define CRISPR arrays.

Science.gov (United States)

Biswas, Ambarish; Staals, Raymond H J; Morales, Sergio E; Fineran, Peter C; Brown, Chris M

2016-05-17

CRISPR (clustered regularly interspaced short palindromic repeats) RNAs provide the specificity for noncoding RNA-guided adaptive immune defence systems in prokaryotes. CRISPR arrays consist of repeat sequences separated by specific spacer sequences. CRISPR arrays have previously been identified in a large proportion of prokaryotic genomes. However, currently available detection algorithms do not utilise recently discovered features regarding CRISPR loci. We have developed a new approach to automatically detect, predict and interactively refine CRISPR arrays. It is available as a web program and command line from bioanalysis.otago.ac.nz/CRISPRDetect. CRISPRDetect discovers putative arrays, extends the array by detecting additional variant repeats, corrects the direction of arrays, refines the repeat/spacer boundaries, and annotates different types of sequence variations (e.g. insertion/deletion) in near identical repeats. Due to these features, CRISPRDetect has significant advantages when compared to existing identification tools. As well as further support for small medium and large repeats, CRISPRDetect identified a class of arrays with 'extra-large' repeats in bacteria (repeats 44-50 nt). The CRISPRDetect output is integrated with other analysis tools. Notably, the predicted spacers can be directly utilised by CRISPRTarget to predict targets. CRISPRDetect enables more accurate detection of arrays and spacers and its gff output is suitable for inclusion in genome annotation pipelines and visualisation. It has been used to analyse all complete bacterial and archaeal reference genomes.

Identification of catecholamine neurotransmitters using fluorescence sensor array

Energy Technology Data Exchange (ETDEWEB)

Ghasemi, Forough [Department of Chemistry, Sharif University of Technology, Tehran 11155-9516 (Iran, Islamic Republic of); Hormozi-Nezhad, M. Reza, E-mail: hormozi@sharif.edu [Department of Chemistry, Sharif University of Technology, Tehran 11155-9516 (Iran, Islamic Republic of); Institute for Nanoscience and Nanotechnology, Sharif University of Technology, Tehran (Iran, Islamic Republic of); Mahmoudi, Morteza, E-mail: mahmoudi@stanford.edu [Department of Nanotechnology and Nanotechnology Research Center, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran 13169-43551 (Iran, Islamic Republic of); Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA 94305-5101 (United States)

2016-04-21

A nano-based sensor array has been developed for identification and discrimination of catecholamine neurotransmitters based on optical properties of their oxidation products under alkaline conditions. To produce distinct fluorescence response patterns for individual catecholamine, quenching of thioglycolic acid functionalized cadmium telluride (CdTe) quantum dots, by oxidation products, were employed along with the variation of fluorescence spectra of oxidation products. The spectral changes were analyzed with hierarchical cluster analysis (HCA) and principal component analysis (PCA) to identify catecholamine patterns. The proposed sensor could efficiently discriminate the individual catecholamine (i.e., dopamine, norepinephrine, and L-DOPA) and their mixtures in the concentration range of 0.25–30 μmol L{sup −1}. Finally, we found that the sensor had capability to identify the various catecholamines in urine sample. - Highlights: • We have proposed a fluorescence sensor array to detect catecholamine neurotransmitters. • Visual differentiation of catecholamines is provided by fluorescence array fingerprints. • Discrimination of catecholamines from each other, and from their mixture is obtained on a PCA plot. • Proposed sensor array can be used for detection of catecholamines in urine samples.

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

Science.gov (United States)

Chen, Chih-Ping; Su, Yi-Ning; Lin, Tzu-Hung; Chang, Tung-Yao; Su, Jun-Wei; Wang, Wayseen

2013-12-01

We describe a prenatal molecular diagnosis of hypochondroplasia (HCH) in a pregnancy not at risk of HCH and review the literature on prenatal diagnosis of HCH. A 28-year-old primigravid woman was referred for genetic counseling at 30 weeks of gestation because of short-limbed dwarfism in the fetus. The woman had a body height of 152 cm. Her husband had a body height of 180 cm. Level II ultrasound showed a normal amount of amniotic fluid and a singleton fetus with fetal biometry equivalent to 30 weeks except for short limbs. Fetal biometry measurements were as follows: biparietal diameter = 7.38 cm (30 weeks); head circumference = 28.14 cm (30 weeks); abdominal circumference (AC) = 24.64 cm (30 weeks); femur length (FL) = 3.97 cm ( 0.18); humerus = 3.64 cm (diagnosis of achondroplasia (ACH) was made. DNA testing for the FGFR3 gene and whole-genome array comparative genomic hybridization (aCGH) analysis were performed using cord blood DNA obtained by cordocentesis. FGFR3 mutation analysis revealed a de novo heterozygous c.833A > G, TAC > TGC transversion in exon 7 leading to a p.Tyr278Cys (Y278C) mutation in the FGFR3 protein. aCGH analysis revealed no genomic imbalance in cord blood. After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly. Cytogenetic analysis of cultured placental cells revealed a karyotype of 46,XX. Prenatal diagnosis of abnormal ultrasound findings suspicious of ACH should include a differential diagnosis of HCH by molecular analysis of FGFR3. Copyright © 2013. Published by Elsevier B.V.

The Cherenkov Telescope Array production system for Monte Carlo simulations and analysis

Science.gov (United States)

Arrabito, L.; Bernloehr, K.; Bregeon, J.; Cumani, P.; Hassan, T.; Haupt, A.; Maier, G.; Moralejo, A.; Neyroud, N.; pre="for the"> CTA Consortium, DIRAC Consortium,

2017-10-01

The Cherenkov Telescope Array (CTA), an array of many tens of Imaging Atmospheric Cherenkov Telescopes deployed on an unprecedented scale, is the next-generation instrument in the field of very high energy gamma-ray astronomy. An average data stream of about 0.9 GB/s for about 1300 hours of observation per year is expected, therefore resulting in 4 PB of raw data per year and a total of 27 PB/year, including archive and data processing. The start of CTA operation is foreseen in 2018 and it will last about 30 years. The installation of the first telescopes in the two selected locations (Paranal, Chile and La Palma, Spain) will start in 2017. In order to select the best site candidate to host CTA telescopes (in the Northern and in the Southern hemispheres), massive Monte Carlo simulations have been performed since 2012. Once the two sites have been selected, we have started new Monte Carlo simulations to determine the optimal array layout with respect to the obtained sensitivity. Taking into account that CTA may be finally composed of 7 different telescope types coming in 3 different sizes, many different combinations of telescope position and multiplicity as a function of the telescope type have been proposed. This last Monte Carlo campaign represented a huge computational effort, since several hundreds of telescope positions have been simulated, while for future instrument response function simulations, only the operating telescopes will be considered. In particular, during the last 18 months, about 2 PB of Monte Carlo data have been produced and processed with different analysis chains, with a corresponding overall CPU consumption of about 125 M HS06 hours. In these proceedings, we describe the employed computing model, based on the use of grid resources, as well as the production system setup, which relies on the DIRAC interware. Finally, we present the envisaged evolutions of the CTA production system for the off-line data processing during CTA operations and

Numerical study of read scheme in one-selector one-resistor crossbar array

Science.gov (United States)

Kim, Sungho; Kim, Hee-Dong; Choi, Sung-Jin

2015-12-01

A comprehensive numerical circuit analysis of read schemes of a one selector-one resistance change memory (1S1R) crossbar array is carried out. Three schemes-the ground, V/2, and V/3 schemes-are compared with each other in terms of sensing margin and power consumption. Without the aid of a complex analytical approach or SPICE-based simulation, a simple numerical iteration method is developed to simulate entire current flows and node voltages within a crossbar array. Understanding such phenomena is essential in successfully evaluating the electrical specifications of selectors for suppressing intrinsic drawbacks of crossbar arrays, such as sneaky current paths and series line resistance problems. This method provides a quantitative tool for the accurate analysis of crossbar arrays and provides guidelines for developing an optimal read scheme, array configuration, and selector device specifications.

Multiple Seismic Array Observations for Tracing Deep Tremor Activity in Western Shikoku, Japan

Science.gov (United States)

Takeda, T.; Matsuzawa, T.; Shiomi, K.; Obara, K.

2011-12-01

Deep non-volcanic tremors become very active during episodic slow-slip events in western Japan and Cascadia. The episodic tremor and slow-slip events in western Shikoku, Japan, occur at a typical interval of 6 months. Recently, it has been reported that tremor migration activity is complex and shows different migrating directions depending on time scales (Ghosh et al., 2010). Such characteristics of tremor are important to understand the mechanism of tremor and the relationship between tremor and SSEs. However it is difficult to determine the location of tremors with high accuracy because tremors show faint signals and make the identification of P/S-wave arrivals difficult. Seismic array analysis is useful to evaluate tremor activity, especially to estimate the arrival direction of seismic energy (e.g. Ueno et al., 2010, Ghosh et al., 2010), as it can distinguish multiple tremor sources occurring simultaneously. Here, we have conducted seismic array observation and analyzed seismic data during tremor activity by applying the MUSIC method to trace tremor location and its migration in western Shikoku. We have installed five seismic arrays in western Shikoku since January 2011. One of the arrays contains 30 stations with 3-component seismometers with a natural frequency of 2 Hz (Type-L array). The array aperture size is 2 km and the mean interval between stations is approximately 200 m. Each of the other arrays (Type-S array) contains 9 seismic stations with the same type of seismometers of the Type-L array, and is deployed surrounding the Type-L array. The small array aperture size is 800 m and its mean station interval is approximately 150 m. All array stations have recorded continuous waveform data at a sampling of 200Hz. In May 2011, an episodic tremor and a short-term slip event occurred for the first time during the observation period. We could retrieve the array seismic data during the whole tremor episode. The analysis of data from the type-L array confirms

Detecting Outlier Microarray Arrays by Correlation and Percentage of Outliers Spots

Directory of Open Access Journals (Sweden)

Song Yang

2006-01-01

Full Text Available We developed a quality assurance (QA tool, namely microarray outlier filter (MOF, and have applied it to our microarray datasets for the identification of problematic arrays. Our approach is based on the comparison of the arrays using the correlation coefficient and the number of outlier spots generated on each array to reveal outlier arrays. For a human universal reference (HUR dataset, which is used as a technical control in our standard hybridization procedure, 3 outlier arrays were identified out of 35 experiments. For a human blood dataset, 12 outlier arrays were identified from 185 experiments. In general, arrays from human blood samples displayed greater variation in their gene expression profiles than arrays from HUR samples. As a result, MOF identified two distinct patterns in the occurrence of outlier arrays. These results demonstrate that this methodology is a valuable QA practice to identify questionable microarray data prior to downstream analysis.

Post-Irradiation Examination of Array Targets - Part I

Energy Technology Data Exchange (ETDEWEB)

Icenhour, A.S.

2004-01-23

During FY 2001, two arrays, each containing seven neptunium-loaded targets, were irradiated at the Advanced Test Reactor in Idaho to examine the influence of multi-target self-shielding on {sup 236}Pu content and to evaluate fission product release data. One array consisted of seven targets that contained 10 vol% NpO{sub 2} pellets, while the other array consisted of seven targets that contained 20 vol % NpO{sub 2} pellets. The arrays were located in the same irradiation facility but were axially separated to minimize the influence of one array on the other. Each target also contained a dosimeter package, which consisted of a small NpO{sub 2} wire that was inside a vanadium container. After completion of irradiation and shipment back to the Oak Ridge National Laboratory, nine of the targets (four from the 10 vol% array and five from the 20 vol% array) were punctured for pressure measurement and measurement of {sup 85}Kr. These nine targets and the associated dosimeters were then chemically processed to measure the residual neptunium, total plutonium production, {sup 238}Pu production, and {sup 236}Pu concentration at discharge. The amount and isotopic composition of fission products were also measured. This report provides the results of the processing and analysis of the nine targets.

INFORMATION TECHNOLOGIES IN THE ASSESSMENT OF THE PREIMPLANTATION GENETIC DIAGNOSIS EFFICIENCY IN THE FIELD OF ASSISTED REPRODUCTIVE TECHNOLOGIES

Directory of Open Access Journals (Sweden)

S. V. Denysenko

2012-11-01

Full Text Available Application of the information technologies is becoming increasingly important in the practice of molecular and cytogenetic analysis of chromosomal abnormalities in particular on the preimplantation level. Capacity of preimplantation diagnosis is based on fluorescent in situ hybridization (FISH and comparative genomic hybridization (CGH. Interpretation of FISH/CGH results is performed with the help of Applied Cytovision System.

Integral computer-generated hologram via a modified Gerchberg-Saxton algorithm

International Nuclear Information System (INIS)

Wu, Pei-Jung; Lin, Bor-Shyh; Chen, Chien-Yue; Huang, Guan-Syun; Deng, Qing-Long; Chang, Hsuan T

2015-01-01

An integral computer-generated hologram, which modulates the phase function of an object based on a modified Gerchberg–Saxton algorithm and compiles a digital cryptographic diagram with phase synthesis, is proposed in this study. When the diagram completes position demultiplexing decipherment, multi-angle elemental images can be reconstructed. Furthermore, an integral CGH with a depth of 225 mm and a visual angle of ±11° is projected through the lens array. (paper)

Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14

OpenAIRE

2010-01-01

Abstract Interstitial deletions of the long arm of chromosome 6 are rare, and most of the reported cases represent large, cytogenetically detectable deletions. The implementation of array-CGH in the diagnostic work-up of patients presenting with congenital disorders including developmental delay has enabled the identification of many patients with smaller chromosomal imbalances. Here we present 4 patients with a de novo interstitial deletion of chromosome 6q13-14, resulting in a c...

An efficient method for evaluating RRAM crossbar array performance

Science.gov (United States)

Song, Lin; Zhang, Jinyu; Chen, An; Wu, Huaqiang; Qian, He; Yu, Zhiping

2016-06-01

An efficient method is proposed in this paper to mitigate computational burden in resistive random access memory (RRAM) array simulation. In the worst case scenario, a 4 Mb RRAM array with line resistance is greatly reduced using this method. For 1S1R-RRAM array structures, static and statistical parameters in both reading and writing processes are simulated. Error analysis is performed to prove the reliability of the algorithm when line resistance is extremely small compared with the junction resistance. Results show that high precision is maintained even if the size of RRAM array is reduced by one thousand times, which indicates significant improvements in both computational efficiency and memory requirements.

Read/write schemes analysis for novel complementary resistive switches in passive crossbar memory arrays

International Nuclear Information System (INIS)

Yu Shimeng; Liang Jiale; Wu Yi; Wong, H-S Philip

2010-01-01

Recently a prototype of complementary resistive switches has been proposed to solve the sneak-path problem in passive crossbar memory arrays. To further evaluate the potential of this novel cell structure for practical applications, we present a modeling analysis to capture its switching dynamics and analyze its unique read/write schemes. The model is corroborated by experimental data. We found a trade-off between the read voltage window and write voltage window. The constraint from avoiding disturbance on unselected cells is critical for proper functionality, which in turn limits the writing speed.

A pattern recognition approach to transistor array parameter variance

Science.gov (United States)

da F. Costa, Luciano; Silva, Filipi N.; Comin, Cesar H.

2018-06-01

The properties of semiconductor devices, including bipolar junction transistors (BJTs), are known to vary substantially in terms of their parameters. In this work, an experimental approach, including pattern recognition concepts and methods such as principal component analysis (PCA) and linear discriminant analysis (LDA), was used to experimentally investigate the variation among BJTs belonging to integrated circuits known as transistor arrays. It was shown that a good deal of the devices variance can be captured using only two PCA axes. It was also verified that, though substantially small variation of parameters is observed for BJT from the same array, larger variation arises between BJTs from distinct arrays, suggesting the consideration of device characteristics in more critical analog designs. As a consequence of its supervised nature, LDA was able to provide a substantial separation of the BJT into clusters, corresponding to each transistor array. In addition, the LDA mapping into two dimensions revealed a clear relationship between the considered measurements. Interestingly, a specific mapping suggested by the PCA, involving the total harmonic distortion variation expressed in terms of the average voltage gain, yielded an even better separation between the transistor array clusters. All in all, this work yielded interesting results from both semiconductor engineering and pattern recognition perspectives.

Concurrent array-based queue

Science.gov (United States)

Heidelberger, Philip; Steinmacher-Burow, Burkhard

2015-01-06

According to one embodiment, a method for implementing an array-based queue in memory of a memory system that includes a controller includes configuring, in the memory, metadata of the array-based queue. The configuring comprises defining, in metadata, an array start location in the memory for the array-based queue, defining, in the metadata, an array size for the array-based queue, defining, in the metadata, a queue top for the array-based queue and defining, in the metadata, a queue bottom for the array-based queue. The method also includes the controller serving a request for an operation on the queue, the request providing the location in the memory of the metadata of the queue.

Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2

DEFF Research Database (Denmark)

Dathe, Katarina; Kjaer, Klaus W; Brehm, Anja

2009-01-01

Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown to be due to mutations in the Bone morphogenetic protein receptor 1B (BMPR1B) or in its ligand Growth and differentiation factor 5 (GDF5......). A linkage analysis performed in a mutation-negative family identified a novel locus for BDA2 on chromosome 20p12.3 that incorporates the gene for Bone morphogenetic protein 2 (BMP2). No point mutation was identified in BMP2, so a high-density array CGH analysis covering the critical interval...... within the identified duplication. Our results reveal an additional functional mechanism for the pathogenesis of BDA2, which is duplication of a regulatory element that affects the expression of BMP2 in the developing limb....

Multi-terabyte EIDE disk arrays running Linux RAID5

International Nuclear Information System (INIS)

Sanders, D.A.; Cremaldi, L.M.; Eschenburg, V.; Godang, R.; Joy, M.D.; Summers, D.J.; Petravick, D.L.

2004-01-01

High-energy physics experiments are currently recording large amounts of data and in a few years will be recording prodigious quantities of data. New methods must be developed to handle this data and make analysis at universities possible. Grid Computing is one method; however, the data must be cached at the various Grid nodes. We examine some storage techniques that exploit recent developments in commodity hardware. Disk arrays using RAID level 5 (RAID-5) include both parity and striping. The striping improves access speed. The parity protects data in the event of a single disk failure, but not in the case of multiple disk failures. We report on tests of dual-processor Linux Software RAID-5 arrays and Hardware RAID-5 arrays using a 12-disk 3ware controller, in conjunction with 250 and 300 GB disks, for use in offline high-energy physics data analysis. The price of IDE disks is now less than $1/GB. These RAID-5 disk arrays can be scaled to sizes affordable to small institutions and used when fast random access at low cost is important

Multi-terabyte EIDE disk arrays running Linux RAID5

Energy Technology Data Exchange (ETDEWEB)

Sanders, D.A.; Cremaldi, L.M.; Eschenburg, V.; Godang, R.; Joy, M.D.; Summers, D.J.; /Mississippi U.; Petravick, D.L.; /Fermilab

2004-11-01

High-energy physics experiments are currently recording large amounts of data and in a few years will be recording prodigious quantities of data. New methods must be developed to handle this data and make analysis at universities possible. Grid Computing is one method; however, the data must be cached at the various Grid nodes. We examine some storage techniques that exploit recent developments in commodity hardware. Disk arrays using RAID level 5 (RAID-5) include both parity and striping. The striping improves access speed. The parity protects data in the event of a single disk failure, but not in the case of multiple disk failures. We report on tests of dual-processor Linux Software RAID-5 arrays and Hardware RAID-5 arrays using a 12-disk 3ware controller, in conjunction with 250 and 300 GB disks, for use in offline high-energy physics data analysis. The price of IDE disks is now less than $1/GB. These RAID-5 disk arrays can be scaled to sizes affordable to small institutions and used when fast random access at low cost is important.

Phased Array Ultrasonic Evaluation of Space Shuttle Main Engine (SSME) Nozzle Weld

Science.gov (United States)

James, Steve; Engel, J.; Kimbrough, D.; Suits, M.; Hopson, George (Technical Monitor)

2001-01-01

This viewgraph presentation gives an overview of the phased array ultrasonic evaluation of the Space Shuttle Main Engine (SSME) nozzle weld. Details are given on the nondestructive testing evaluation approach, conventional shear wave and phased array techniques, and an x-ray versus phased array risk analysis. The field set-up was duplicated to the greatest extent possible in the laboratory and the phased array ultrasonic technique was developed and validated prior to weld evaluation. Results are shown for the phased array ultrasonic evaluation and conventional ultrasonic evaluation results.

Study and operating conditions of HTS Josephson arrays for metrological application

International Nuclear Information System (INIS)

Sosso, A.; Lacquaniti, V.; Andreone, D.; Cerri, R.; Klushin, A.M.

2006-01-01

We report an experimental study of metrological properties of high-temperature superconductor arrays, made of shunted bicrystal YBCO Josephson junctions. The work is mainly based on a direct comparison against a low temperature array. Owing to the high sensitivity of the measurements, we observed at nanovolt level the changes in the HTS array voltage on a step. A precise estimate of the dependence of the HTS array step width on operating conditions was obtained. Differences were observed with respect to the results of low sensitivity techniques, confirming that our method is necessary in the study of HTS arrays for metrology. The high sensitivity analysis was also applied in the derivation of the temperature dependence of the critical current, providing insights on the behavior of the HTS array