Article

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale Testing

2024-10-22

Abstract excerpt

DNA sequencing of patients with rare disorders has been highly successful in identifying “causal variants” for numerous conditions. However, there are many reports of healthy individuals who harbor these deleterious variants, leading to the concept of incomplete penetrance and doubt about the utility of genetic testing in clinical practice and population screening. As the deleterious variants are rare, the penetra...

Topics

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

Identifiers and source

Literature Corpus work: 9e8742e0-0fdb-5740-910d-f44965478ca9
DOI: 10.1101/2024.10.21.24315653

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale TestingDOI 10.1101/2024.10.21.24315653Read

Deleterious Variants Contribute Minimal Excess Risk in Large-Scale TestingSemantic proximity Read

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

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.Semantic proximity Read

Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.Semantic proximity Read

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

Penetrance of Deleterious Clinical Variants.Semantic proximity Read

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

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Semantic proximity Read

A systematic approach to assessing the clinical significance of genetic variants.Semantic proximity Read

Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.Semantic proximity Read

Clinical Interpretation and Management of Genetic VariantsSemantic proximity Read

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