Article
High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Genome research - 1 Sept 2009
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 excerpt
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...
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