High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications

Simple item page
dc.contributor.authorOchieng, Otieno, George
dc.contributor.authorShaikh, T.H.
dc.contributor.authorGai, X.
dc.contributor.authorPerin, J.C.
dc.contributor.authorGlessner, J.T.
dc.contributor.authorCasalunovo, T.
dc.contributor.authorXie, H.
dc.contributor.authorMurphy, K.
dc.contributor.authorO'Hara, R.
dc.contributor.authorConlin, L.K.
dc.contributor.authorD'Arcy, M.
dc.contributor.authorFrackelton, E.C.
dc.contributor.authorGeiger, E.A.
dc.contributor.authorHaldeman-Englert, C.
dc.contributor.authorImielinski, M.
dc.contributor.authorKim, C.E.
dc.contributor.authorMedne, L.
dc.contributor.authorAnnaiah, K.
dc.contributor.authorBradfield, J.P.
dc.contributor.authorDabaghyan, E.
dc.date.accessioned2014-07-23T14:40:22Z
dc.date.available2014-07-23T14:40:22Z
dc.date.issued2009-09-19
dc.descriptiondoi: 10.1101/gr.083501.108en_US
dc.description.abstractWe present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study using a uniform array platform and computational process. We have catalogued and characterized 54,462 individual CNVs, 77.8% of which were identified in multiple unrelated individuals. These nonunique CNVs mapped to 3272 distinct regions of genomic variation spanning 5.9% of the genome; 51.5% of these were previously unreported, and >85% are rare. Our annotation and analysis confirmed and extended previously reported correlations between CNVs and several genomic features such as repetitive DNA elements, segmental duplications, and genes. We demonstrate the utility of this data set in distinguishing CNVs with pathologic significance from normal variants. Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics.en_US
dc.identifier.citationGenome Res. Sep 2009; 19(9): 1682–1690.en_US
dc.identifier.issn1088-9051
dc.identifier.other1549-5469
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752118/#__ffn_sectitle
dc.identifier.urihttp://ir-library.ku.ac.ke/handle/123456789/10599
dc.language.isoenen_US
dc.publisherCold Spring Harbor Laboratory Pressen_US
dc.titleHigh-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applicationsen_US
dc.typeArticleen_US
Files
Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
High-resolution mapping....pdf
Size:
1.87 MB
Format:
Adobe Portable Document Format
Description:
Fulltext
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download
Collections
RP-Department of Health Management & Informatics