Original paper
A structural variation reference for medical and population genetics
Abstract
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. However, there are no reference...
Paper Details
Title
A structural variation reference for medical and population genetics
Published Date
May 27, 2020
Journal
Volume
581
Issue
7809
Pages
444 - 451
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Notes
History