Article

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

2021-06-23

Abstract excerpt

Genome-wide association studies have successfully discovered thousands of common variants associated with human diseases and traits, but the landscape of rare variation in human disease has not been explored at scale. Exome sequencing studies of population biobanks provide an opportunity to systematically evaluate the impact of rare coding variation across a wide range of phenotypes to discover genes and allelic s...

Topics

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

Identifiers and source

Literature Corpus work: 1d0b0ee9-ffea-5015-8761-541ffdccb460
DOI: 10.1101/2021.06.19.21259117

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomesDOI 10.1101/2021.06.19.21259117Read

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

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

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

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.Semantic proximity Read

SAIGE-GENE+ improves the efficiency and accuracy of set-based rare variant association tests.Semantic proximity Read

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

The UK10K project identifies rare variants in health and disease.Semantic proximity Read

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

Exome sequencing and characterization of 49,960 individuals in the UK Biobank.Semantic proximity Read

Systematic common and rare variant association testing in 392,030 whole genomes in <i>All of Us</i>Semantic proximity Read

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data.Semantic proximity Read

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses.Semantic proximity Read