Article

Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

2022-03-19

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Recommendations: </h4> from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants specify the use of computational predictors as Supporting level of evidence for pathogenicity or benignity using criteria PP3 and BP4, respectively. However, score intervals defined by tool developers, and ACMG/AMP recomme...

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Literature Corpus work: 7ffb2ce5-494b-54f0-bd8f-684906f0cde1
DOI: 10.1101/2022.03.17.484479

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