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REVEL Is Better at Predicting Pathogenicity of Loss-of-Function than Gain-of-Function Variants

4 Dec 2023

Abstract excerpt

In silico predictive tools can help determine the pathogenicity of variants. The 2015 American College of Medical Genetics and Genomics (ACMG) guidelines recommended that scores from these tools can be used as supporting evidence of pathogenicity. A subsequent publication by the ClinGen Sequence Variant Interpretation Working Group suggested that high scores from some tools were sufficiently predictive to be used...

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PMID: 40225155
DOI: 10.1155/2023/8857940

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