Article

Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting

2018-09-04

Abstract excerpt

<h4>ABSTRACT</h4> Over 100,000 genetic variants are classified as disease-causing in public databases. However, the true penetrance of many of these rare alleles is uncertain and may be over-estimated by clinical ascertainment. As more people undergo genome sequencing there is an increasing need to assess the true penetrance of alleles. Until recently, this was not possible in a population-based setting. Here, we...

Topics

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

Identifiers and source

Literature Corpus work: cc4706f0-992d-565d-9dd3-d02a798d25e0
DOI: 10.1101/407981

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population settingDOI 10.1101/407981Read

Extracting and calibrating evidence of variant pathogenicity from population biobank dataSemantic proximity Read

VarPPUD: Variant post prioritization developed for undiagnosed genetic disordersSemantic proximity Read

Population-Based Penetrance of Deleterious Clinical Variants.Semantic proximity Read

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

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

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.Semantic proximity Read

Extracting and calibrating evidence of variant pathogenicity from population biobank data.Semantic proximity Read

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening: Evidence from Adult BiobanksSemantic proximity Read

Inherited burden for disease predisposition in diverse populationsSemantic proximity Read

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.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

The Excess of Carriers in Rare Disorders Suggests a Nonpathogenic Effect for Most Variants of Uncertain Significance.Semantic proximity Read