Article

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

2019-01-29

Abstract excerpt

<h4>Purpose</h4> Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of gene-disease relationships. The Clinical Genome Resource (ClinGen) has developed a semi-quantitative framework to assign clinical validity to gene-disease r...

Topics

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

Identifiers and source

Literature Corpus work: 968f5eff-11cf-5598-9415-82be2e8af017
DOI: 10.1101/534040

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease PairsDOI 10.1101/534040Read

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time.Semantic proximity Read

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing LossSemantic proximity Read

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing lossSemantic proximity Read

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing lossSemantic proximity Read

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.Semantic proximity Read

Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.Semantic proximity Read

Improving genetic diagnosis by disease-specific, ACMG/AMP variant interpretation guidelines for hearing loss.Semantic proximity Read

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease RelationshipsSemantic proximity Read

The genomic landscape of syndromic and non-syndromic hearing loss within the 100,000 Genomes Project cohortSemantic proximity Read

Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditionsSemantic proximity Read

A Comparative Survey of Functional Evidence Use in Hearing and Vision Loss GeneticsSemantic proximity Read

Curating genomic disease-gene relationships with Gene2PhenotypeSemantic proximity Read