Article

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participants

2020-12-13

Abstract excerpt

<h4>Summary</h4> The UK Biobank (UKB) represents an unprecedented population-based study of 502,543 participants with detailed phenotypic data and linkage to medical records. While the release of genotyping array data for this cohort has bolstered genomic discovery for common variants, the contribution of rare variants to this broad phenotype collection remains relatively unknown. Here, we use exome sequencing da...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 73a62ac9-202e-5f40-91b5-92ee072b2f54
DOI: 10.1101/2020.12.13.422582

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Surveying the contribution of rare variants to the genetic architecture of human disease through exome sequencing of 177,882 UK Biobank participantsDOI 10.1101/2020.12.13.422582Read

Rare variant contribution to human disease in 281,104 UK Biobank exomes.Semantic proximity Read

Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomesSemantic proximity Read

Genetic associations of protein-coding variants in human diseaseSemantic proximity Read

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomesSemantic proximity Read

Advancing Human Genetics Research and Drug Discovery through Exome Sequencing of the UK BiobankSemantic proximity Read

Genetic associations of protein-coding variants in human disease.Semantic proximity Read

Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypesSemantic proximity Read

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK BiobankSemantic proximity Read

Exome sequencing and analysis of 454,787 UK Biobank participants.Semantic proximity Read

Ancestrally and Temporally Diverse Analysis of Penetrance of Clinical Variants in 72,434 IndividualsSemantic proximity Read

Polygenic architecture of rare coding variation across 394,783 exomes.Semantic proximity Read

Estimation and mapping of the missing heritability of human phenotypes.Semantic proximity Read