Author:
Shaikh Tamim H.,Gai Xiaowu,Perin Juan C.,Glessner Joseph T.,Xie Hongbo,Murphy Kevin,O'Hara Ryan,Casalunovo Tracy,Conlin Laura K.,D'Arcy Monica,Frackelton Edward C.,Geiger Elizabeth A.,Haldeman-Englert Chad,Imielinski Marcin,Kim Cecilia E.,Medne Livija,Annaiah Kiran,Bradfield Jonathan P.,Dabaghyan Elvira,Eckert Andrew,Onyiah Chioma C.,Ostapenko Svetlana,Otieno F. George,Santa Erin,Shaner Julie L.,Skraban Robert,Smith Ryan M.,Elia Josephine,Goldmuntz Elizabeth,Spinner Nancy B.,Zackai Elaine H.,Chiavacci Rosetta M.,Grundmeier Robert,Rappaport Eric F.,Grant Struan F.A.,White Peter S.,Hakonarson Hakon
Abstract
We 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.
Publisher
Cold Spring Harbor Laboratory
Subject
Genetics (clinical),Genetics
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