{"doi":"10.1038/s41586-020-2287-8","title":"A structural variation reference for medical and population genetics","abstract":"Structural variants (SVs) rearrange large segments of DNA<sup>1</sup> and can have profound consequences in evolution and human disease<sup>2,3</sup>. 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)<sup>4</sup> have become integral in the interpretation of single-nucleotide variants (SNVs)<sup>5</sup>. 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 complex landscape of 433,371 SVs, from which we estimate that SVs are responsible for 25-29% of all rare protein-truncating events per genome. We found strong correlations between natural selection against damaging SNVs and rare SVs that disrupt or duplicate protein-coding sequence, which suggests that genes that are highly intolerant to loss-of-function are also sensitive to increased dosage<sup>6</sup>. We also uncovered modest selection against noncoding SVs in cis-regulatory elements, although selection against protein-truncating SVs was stronger than all noncoding effects. Finally, we identified very large (over one megabase), rare SVs in 3.9% of samples, and estimate that 0.13% of individuals may carry an SV that meets the existing criteria for clinically important incidental findings<sup>7</sup>. This SV resource is freely distributed via the gnomAD browser<sup>8</sup> and will have broad utility in population genetics, disease-association studies, and diagnostic screening.","journal":"Nature","year":2020,"id":2612,"datarank":9.911044171657313,"base_score":6.993932975223189,"endowment":6.993932975223189,"self_citation_contribution":1.0490899462834786,"citation_network_contribution":8.861954225373834,"self_endowment_contribution":1.0490899462834786,"citer_contribution":8.861954225373834,"corpus_percentile":78.68185516680228,"corpus_rank":263,"citation_count":1157,"citer_count":156,"citers_with_citation_signal":156,"citers_with_endowment":156,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.6864,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-05-27","algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":975,"name":"Harrison Brand","orcid":"0000-0002-7901-0812","position":1,"is_corresponding":false},{"id":47,"name":"Konrad J. 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