articleNatureMay 27, 2020HYBRID OA

A structural variation reference for medical and population genetics

RLRyan L. CollinsHBHarrison BrandKJKonrad J. KarczewskiXZXuefang ZhaoJAJessica Alföldi

Broad Institute · Harvard University · +89 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

Abstract Structural variants (SVs) rearrange large segments of DNA 1 and can have profound consequences in evolution and human disease 2,3 . 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 maps of SVs from high-coverage genome sequencing comparable to those for SNVs. Here we present a reference of sequence-resolved SVs constructed from 14,891 genomes across diverse global populations (54% non-European) in gnomAD. We discovered a rich and…

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Topics & keywords

Topics
Keywords
  • Variation (astronomy)
  • Medical genetics
  • Population genetics
  • Population
  • Genetics
  • Evolutionary biology
  • Biology
  • Genetic variation
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