Article

Predicting disease-causing variant combinations

2019-01-15

Abstract excerpt

<h4>ABSTRACT</h4> Notwithstanding important advances in the context of single-variant pathogenicity identification, novel breakthroughs in discerning the origins of many rare diseases require methods able to identify more complex genetic models. We present here the Variant Combinations Pathogenicity Predictor (VarCoPP), a machine-learning approach that identifies pathogenic variant combinations in gene pairs (bi-...

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Literature Corpus work: 0ebe5938-0317-5e1d-99d6-dbf0c6891856
DOI: 10.1101/520353

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