Article
Mapping and characterization of structural variation in 17,795 human genomes.
Nature - 1 Jul 2020
Abel Haley J, Larson David E, Regier Allison A, Chiang Colby, Das Indraniel, Kanchi Krishna L, Layer Ryan M, Neale Benjamin M, Salerno William J, Reeves Catherine, Buyske Steven, Matise Tara C, Muzny Donna M, Zody Michael C, Lander Eric S, Dutcher Susan K, Stitziel Nathan O, Hall Ira M
Abstract excerpt
A key goal of whole-genome sequencing for studies of human genetics is to interrogate all forms of variation, including single-nucleotide variants, small insertion or deletion (indel) variants and structural variants. However, tools and resources for the study of structural variants have lagged behind those for smaller variants. Here we used a scalable pipeline1 to map and characterize structural variants in...
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