Article

Specification of frequency criteria for secondary findings genes to improve variant classification concordance

2025-09-20

Abstract excerpt

<h4>Purpose</h4> The return of secondary findings (SF) is well-established in clinical testing and is increasingly employed in clinical research testing. Variant classification can be challenging due to the lack of monogenic disease entity (MDE, defined as a gene-phenotype pair) specific variant classification recommendations. A key criterion for variant classification is disease allele frequency thresholds (DAFT...

Topics

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

Identifiers and source

Literature Corpus work: 6ae13442-ed1b-56e9-9318-666e0c292766
DOI: 10.1101/2025.09.19.676605

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Specification of frequency criteria for secondary findings genes to improve variant classification concordanceDOI 10.1101/2025.09.19.676605Read

Specification of frequency criteria for secondary findings genes to improve variant classification concordance.Semantic proximity Read

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG).Semantic proximity Read

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.Semantic proximity Read

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanismsSemantic proximity Read

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.Semantic proximity Read

Updated recommendation for the benign stand‐alone ACMG/AMP criterionSemantic proximity Read

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation frameworkSemantic proximity Read

ACMG Secondary Findings in the Brazilian Rare Genomes Project: Insights from 5,402 genome sequencingSemantic proximity Read

Evaluating ClinGen variant curation expert panels' application of PVS1 code.Semantic proximity Read

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

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.Semantic proximity Read

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