Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Using large-scale population-based data to improve disease risk assessment of clinical variants.

Nature genetics - 1 Jul 2025

Forrest Iain S, Huang Kuan-Lin, Eggington Julie M, Chung Wendy K, Jordan Daniel M, Do Ron

Abstract excerpt

Understanding the disease risk of genetic variants is fundamental to precision medicine. Estimates of penetrance-the probability of disease for individuals with a variant allele-rely on disease-specific cohorts, clinical testing and emerging electronic health record (EHR)-linked biobanks. These data sources, while valuable, each have limitations in quality, representativeness and analyzability. Here, we provide a...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bayes Theorem
Share to Databases, Genetic
Share to Electronic Health Records

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Genetic Variation

Share to Penetrance

Share to Precision Medicine

Share to Risk Assessment

Source

Open in PubMed Open full text

Identifiers

PMID: 40551016
DOI: 10.1038/s41588-025-02212-3
PMCID: PMC12321300

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Using large-scale population-based data to improve disease risk assessment of clinical variants.PMID 40551016Read ↗

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 ↗

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

Considerations for clinical curation, classification and reporting of low-penetrance and low effect size variants associated with disease riskSemantic proximity Read ↗

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

Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.Semantic proximity Read ↗

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

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.Semantic proximity Read ↗

REPRODUCIBLE AND SHAREABLE QUANTIFICATIONS OF PATHOGENICITY.Semantic proximity Read ↗

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disordersSemantic proximity Read ↗

Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.Semantic proximity Read ↗

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.