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Microarray-based maps of copy-number variant regions in european and sub-saharan populations

Microarray-based maps of copy-number variant regions in european and sub-saharan populations

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Prüfsumme: MD5:d13b9387047415a8087f9ca3b89358d2

VOGLER, Christian, Leo GSCHWIND, Benno RÖTHLISBERGER, Andreas HUBER, Isabel FILGES, Peter MINY, Bianca AUSCHRA, Attila STETAK, Philippe DEMOUGIN, Vanja VUKOJEVIC, Iris KOLASSA, Thomas ELBERT, Dominique J.-F. de QUERVAIN, Andreas PAPASSOTIROPOULOS, 2010. Microarray-based maps of copy-number variant regions in european and sub-saharan populations. In: PLoS ONE. 5(12), e15246

@article{Vogler2010Micro-13463, title={Microarray-based maps of copy-number variant regions in european and sub-saharan populations}, year={2010}, doi={10.1371/journal.pone.0015246}, number={12}, volume={5}, journal={PLoS ONE}, author={Vogler, Christian and Gschwind, Leo and Röthlisberger, Benno and Huber, Andreas and Filges, Isabel and Miny, Peter and Auschra, Bianca and Stetak, Attila and Demougin, Philippe and Vukojevic, Vanja and Kolassa, Iris and Elbert, Thomas and Quervain, Dominique J.-F. de and Papassotiropoulos, Andreas}, note={Article Number: e15246} }

<rdf:RDF xmlns:rdf="http://www.w3.org/1999/02/22-rdf-syntax-ns#" xmlns:bibo="http://purl.org/ontology/bibo/" xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:dcterms="http://purl.org/dc/terms/" xmlns:xsd="http://www.w3.org/2001/XMLSchema#" > <rdf:Description rdf:about="https://kops.uni-konstanz.de/rdf/resource/123456789/13463"> <dc:contributor>Demougin, Philippe</dc:contributor> <dc:contributor>Huber, Andreas</dc:contributor> <dc:contributor>Kolassa, Iris</dc:contributor> <dc:contributor>Röthlisberger, Benno</dc:contributor> <dc:creator>Stetak, Attila</dc:creator> <dc:creator>Quervain, Dominique J.-F. de</dc:creator> <dc:creator>Auschra, Bianca</dc:creator> <dc:creator>Filges, Isabel</dc:creator> <dc:creator>Vukojevic, Vanja</dc:creator> <dc:creator>Kolassa, Iris</dc:creator> <dc:contributor>Elbert, Thomas</dc:contributor> <dc:date rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2011-05-24T13:32:02Z</dc:date> <dcterms:bibliographicCitation>First publ. in: PLoS ONE 5 (2010), 12, e15246</dcterms:bibliographicCitation> <dc:creator>Elbert, Thomas</dc:creator> <dc:contributor>Vogler, Christian</dc:contributor> <bibo:uri rdf:resource="http://kops.uni-konstanz.de/handle/123456789/13463"/> <dc:contributor>Auschra, Bianca</dc:contributor> <dc:rights>deposit-license</dc:rights> <dc:creator>Vogler, Christian</dc:creator> <dc:creator>Demougin, Philippe</dc:creator> <dcterms:rights rdf:resource="http://nbn-resolving.org/urn:nbn:de:bsz:352-20140905103605204-4002607-1"/> <dc:contributor>Miny, Peter</dc:contributor> <dc:contributor>Papassotiropoulos, Andreas</dc:contributor> <dcterms:issued>2010</dcterms:issued> <dcterms:abstract xml:lang="eng">The genetic basis of phenotypic variation can be partially explained by the presence of copy-number variations (CNVs). Currently available methods for CNV assessment include high-density single-nucleotide polymorphism (SNP) microarrays that have become an indispensable tool in genome-wide association studies (GWAS). However, insufficient concordance rates between different CNV assessment methods call for cautious interpretation of results from CNV-based genetic association studies. Here we provide a cross-population, microarray-based map of copy-number variant regions (CNVRs) to enable reliable interpretation of CNV association findings. We used the Affymetrix Genome-Wide Human SNP Array 6.0 to scan the genomes of 1167 individuals from two ethnically distinct populations (Europe, N = 717; Rwanda, N = 450). Three different CNV-finding algorithms were tested and compared for sensitivity, specificity, and feasibility. Two algorithms were subsequently used to construct CNVR maps, which were also validated by processing subsamples with additional microarray platforms (Illumina 1M-Duo BeadChip, Nimblegen 385K aCGH array) and by comparing our data with publicly available information. Both algorithms detected a total of 42669 CNVs, 74% of which clustered in 385 CNVRs of a crosspopulation map. These CNVRs overlap with 862 annotated genes and account for approximately 3.3% of the haploid human genome. We created comprehensive cross-populational CNVR-maps. They represent an extendable framework that can leverage the detection of common CNVs and additionally assist in interpreting CNV-based association studies.</dcterms:abstract> <dcterms:available rdf:datatype="http://www.w3.org/2001/XMLSchema#dateTime">2011-05-24T13:32:02Z</dcterms:available> <dc:contributor>Filges, Isabel</dc:contributor> <dc:creator>Huber, Andreas</dc:creator> <dc:language>eng</dc:language> <dc:creator>Miny, Peter</dc:creator> <dc:contributor>Quervain, Dominique J.-F. de</dc:contributor> <dcterms:title>Microarray-based maps of copy-number variant regions in european and sub-saharan populations</dcterms:title> <dc:contributor>Gschwind, Leo</dc:contributor> <dc:creator>Papassotiropoulos, Andreas</dc:creator> <dc:creator>Gschwind, Leo</dc:creator> <dc:contributor>Stetak, Attila</dc:contributor> <dc:creator>Röthlisberger, Benno</dc:creator> <dc:contributor>Vukojevic, Vanja</dc:contributor> </rdf:Description> </rdf:RDF>

Dateiabrufe seit 01.10.2014 (Informationen über die Zugriffsstatistik)

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