Mapping and characterization of structural variation in 17,795 human genomes

A key goal of whole genome sequencing (WGS) for human genetics studies is to interrogate all forms of variation, including single nucleotide variants (SNV), small insertion/deletion (indel) variants and structural variants (SV). However, tools and resources for the study of SV have lagged behind tho...

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Bibliographic Details
Published in:	Nature
Main Authors:	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.
Format:	Artigo
Language:	Inglês
Published:	2020
Subjects:	Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC7547914/ https://ncbi.nlm.nih.gov/pubmed/32460305 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41586-020-2371-0
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Mapping and characterization of structural variation in 17,795 human genomes

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