Article

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

2019-06-28

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The 2015 American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP) guidelines for clinical sequence variant interpretation state that “well-established” functional studies can be used as evidence in variant classification. These guidelines articulated key attributes of functional data, including that assays should reflect the biolog...

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Literature Corpus work: 5c4a4d55-81a4-5c36-81f3-a38f611ca15f
DOI: 10.1101/19000661

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