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Article

Creation of an Expert Curated Variant List for Clinical Genomic Test Development and Validation: A ClinGen and GeT-RM Collaborative Project.

The Journal of molecular diagnostics : JMD - 1 Nov 2021

Wilcox Emma, Harrison Steven M, Lockhart Edward, Voelkerding Karl, Lubin Ira M, Rehm Heidi L, Kalman Lisa V, Funke Birgit

Abstract excerpt

Modern genomic sequencing tests often interrogate large numbers of genes. Identification of appropriate reference materials for development, validation studies, and quality assurance of these tests poses a significant challenge for laboratories. It is difficult to develop and maintain expert knowledge to identify all variants that must be validated to ensure analytic and clinical validity. Additionally, it is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34384894
DOI: 10.1016/j.jmoldx.2021.07.018
PMCID: PMC8647424

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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