Article
PolyBoost: An enhanced genomic variant classifier using extreme gradient boosting.
Proteomics. Clinical applications - 1 May 2021
Parente Daniel J
Abstract excerpt
PURPOSE: Human exome sequences contain 15,000-20,000 variants but many variants have unknown clinical impact. In silico predictive classifiers are recognized by the American College of Medical Genetics as a resource for interpreting these "variants of uncertain significance." Many in silico classifiers have been developed, of which PolyPhen-2 is highly successful and widely used. PolyPhen-2 uses a naïve Bayes...
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