Article

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

2021-06-13

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 assure analytic and clinical validity. Additionally, it is usua...

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Literature Corpus work: eb2337fd-f737-552f-a02c-682adbee2e2b
DOI: 10.1101/2021.06.09.21258594

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