Article

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP Guidelines

2021-02-18

Abstract excerpt

<h4>Background</h4> Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible comprehensive curation tools necessary for analyzing an individual patient genome and interpreting genetic variants to inform healthcare management have been lacking. <h4>Re...

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Literature Corpus work: 7fe16459-a10b-560f-b4b4-7e6df834179f
DOI: 10.1101/2021.02.12.21251663

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