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

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

Human mutation - 1 Jan 2026

Wang Xiaoyan, Zhang Tongmei, Qin Yayun, Zou Yongyi, Luo Haiyan, Li Haibo, Song Jieping

Abstract excerpt

Purpose: The 2015 guidelines recommend using a large, diverse, and race-matched reference database. However, defining expectations in this context is subjective due to factors like genetic diversity and penetrance. ClinGen forms VCEPs to provide gene-specific interpretations of ACMG/AMP guidelines, including population information. Our study evaluates VCEP guidelines on allele frequency information. Methods: We...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Databases, Genetic
Share to Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Guidelines as Topic

Share to Penetrance

Source

Open in PubMed Open full text

Identifiers

PMID: 41969609
DOI: 10.1155/humu/1611484
PMCID: PMC13069149

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Assessing Allele Frequency Information: A Study of Variant Curation Expert Panel Guidelines.PMID 41969609Read ↗

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

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretationSemantic proximity Read ↗

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

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

Specification of frequency criteria for secondary findings genes to improve variant classification concordanceSemantic proximity Read ↗

Comprehensive evaluation of ACMG/AMP-based variant classification tools.Semantic proximity Read ↗

Consultation informs strategies to improve functional evidence use in variant classificationSemantic proximity Read ↗

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP GuidelinesSemantic proximity Read ↗

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.Semantic proximity Read ↗

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.Semantic proximity Read ↗

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Semantic proximity Read ↗

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