Article

Developing Gene-Specific Meta-Predictor of Variant Pathogenicity

2017-03-10

Abstract excerpt

Rapid, accurate, and inexpensive genome sequencing promises to transform medical care. However, a critical hurdle to enabling personalized genomic medicine is predicting the functional impact of novel genomic variation. Various methods of missense variants pathogenicity prediction have been developed by now. Here we present a new strategy for developing a pathogenicity predictor of improved accuracy by applying an...

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Literature Corpus work: 31b2d197-3133-5f0b-ac2e-1112ed6d5cd2
DOI: 10.1101/115956

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