Article

Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes

2020-05-03

Abstract excerpt

Genome sequencing at population scale provides unprecedented access to the genetic foundations of human phenotypic diversity, but genotype-phenotype association analyses limited to small variants have failed to comprehensively characterize the genetic architecture of human health and disease because they ignore structural variants (SVs) known to contribute to phenotypic variation and pathogenic conditions 1–3 . H...

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Literature Corpus work: dd2f2e70-def5-5849-95b0-67b1d4de9b2f
DOI: 10.1101/2020.05.02.074096

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