Article

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome Resource

2017-02-22

Abstract excerpt

With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate clinically valid relationships from less well-substantiated relationships, standard guidelines for such evaluation do...

Topics

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

Identifiers and source

Literature Corpus work: 90ed328c-8ce5-5703-8bcf-e2450e423b85
DOI: 10.1101/111039

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the Clinical Genome ResourceDOI 10.1101/111039Read

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.Semantic proximity Read

Clinical validity of expanded carrier screening: Evaluating the gene-disease relationship in more than 200 conditions.Semantic proximity Read

Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases.Semantic proximity Read

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

Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms.Semantic proximity Read

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resourcesSemantic proximity Read

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.Semantic proximity Read

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and ReclassificationsSemantic proximity Read

Curating genomic disease-gene relationships with Gene2PhenotypeSemantic proximity Read

Gene-disease relationships for glomerular phenotypes: expert recommendations from ClinGen.Semantic proximity Read

Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification.Semantic proximity Read

Curating genomic disease-gene relationships with Gene2Phenotype (G2P).Semantic proximity Read