Article
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
American journal of human genetics - 5 Oct 2017
Quinodoz Mathieu, Royer-Bertrand Beryl, Cisarova Katarina, Di Gioia Silvio Alessandro, Superti-Furga Andrea, Rivolta Carlo
Abstract excerpt
In contrast to recessive conditions with biallelic inheritance, identification of dominant (monoallelic) mutations for Mendelian disorders is more difficult, because of the abundance of benign heterozygous variants that act as massive background noise (typically, in a 400:1 excess ratio). To reduce this overflow of false positives in next-generation sequencing (NGS) screens, we developed DOMINO, a tool assessing...
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