Article

A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework

2020-07-24

Abstract excerpt

The American College of Medical Genetics (ACMG) and Genomics/Association for Molecular Pathology (AMP) previously reported standardized guidance for the assessment of genetic variants. One of the criteria regarding the prevalence in a case-control study, PS4, is important due to its evidence of pathogenicity. Despite recent studies approaching gene- and disease-specific probands, interpretation of a variant to PS4...

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Identifiers and source

Literature Corpus work: 72d47276-d2fb-5fef-95f6-81a5b3db00ce
DOI: 10.1101/2020.07.22.215426

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