Article
A structural variation reference for medical and population genetics.
Nature - 1 May 2020
Collins Ryan L, Brand Harrison, Karczewski Konrad J, Zhao Xuefang, Alföldi Jessica, Francioli Laurent C, Khera Amit V, Lowther Chelsea, Gauthier Laura D, Wang Harold, Watts Nicholas A, Solomonson Matthew, O'Donnell-Luria Anne, Baumann Alexander, Munshi Ruchi, Walker Mark, Whelan Christopher W, Huang Yongqing, Brookings Ted, Sharpe Ted, Stone Matthew R, Valkanas Elise, Fu Jack, Tiao Grace, Laricchia Kristen M, Ruano-Rubio Valentin, Stevens Christine, Gupta Namrata, Cusick Caroline, Margolin Lauren, Taylor Kent D, Lin Henry J, Rich Stephen S, Post Wendy S, Chen Yii-Der Ida, Rotter Jerome I, Nusbaum Chad, Philippakis Anthony, Lander Eric, Gabriel Stacey, Neale Benjamin M, Kathiresan Sekar, Daly Mark J, Banks Eric, MacArthur Daniel G, Talkowski Michael E
Abstract excerpt
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evolution and human disease2,3. As national biobanks, disease-association studies, and clinical genetic testing have grown increasingly reliant on genome sequencing, population references such as the Genome Aggregation Database (gnomAD)4 have become integral in the interpretation of single-nucleotide variants (SNVs)5....
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