Article

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

2019-07-25

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria (PS3/BS3) for functional assays that specified a “strong” level of evidence. However, they did not provide detailed guidance on how functional evidence should be evaluated, and differences in the application of...

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Literature Corpus work: 183d80fb-9e1d-5805-8bd0-60ccea2f3714
DOI: 10.1101/709428

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