Article

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

2020-11-29

Abstract excerpt

<h4>Background</h4> Many human diseases are known to have a genetic contribution. While genome-wide studies have identified many disease-associated loci, it remains challenging to elucidate causal genes. In contrast, exome sequencing provides an opportunity to identify new disease genes and large-effect variants of clinical relevance. We therefore sought to determine the contribution of rare genetic variation in...

Topics

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

Identifiers and source

Literature Corpus work: 4af4b069-61b4-542f-866b-abebbe8b442e
DOI: 10.1101/2020.11.29.402495

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK BiobankDOI 10.1101/2020.11.29.402495Read

Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.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

Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetesSemantic proximity Read

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

Whole-genome sequencing of patients with rare diseases in a national health systemSemantic proximity Read

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

Inherited burden for disease predisposition in diverse populationsSemantic proximity Read

Whole-genome sequencing of patients with rare diseases in a national health system.Semantic proximity Read

Unique roles of rare variants in the genetics of complex diseases in humans.Semantic proximity Read

Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataSemantic proximity Read

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

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