Article

Phenome-wide association study of loci harboring <i>de novo</i> tandem repeat mutations in UK Biobank exomes

2022-01-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Tandem repeats (TRs) are a major source of variation in the human genome under-investigated by large-scale genetic studies. When present in coding regions, TRs may have large effects on protein structure and function contributing to health and disease. <h4>Methods</h4> In a family-based design of 39 European ancestry trios from the UK Biobank (UKB), the GangSTR and MonSTR meth...

Topics

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

Identifiers and source

Literature Corpus work: 5f0a1ccb-06e1-5a52-99f9-4fb62852fe90
DOI: 10.1101/2022.01.26.22269821

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Phenome-wide association study of loci harboring <i>de novo</i> tandem repeat mutations in UK Biobank exomesDOI 10.1101/2022.01.26.22269821Read

Phenome-wide association study of loci harboring de novo tandem repeat mutations in UK Biobank exomes.Semantic proximity Read

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank.Semantic proximity Read

A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK BiobankSemantic proximity Read

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

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

Whole-genome sequencing of half-a-million UK Biobank participantsSemantic proximity Read

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes.Semantic proximity Read

Response to Shah <i>et al</i> : Using high-resolution variant frequencies empowers clinical genome interpretation and enables investigation of genetic architectureSemantic proximity Read

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

Exome sequencing identifies high-impact trait-associated alleles enriched in FinnsSemantic proximity Read

Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK BiobankSemantic proximity Read