Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes

Abstract

MOTIVATION Exome sequencing studies have facilitated the detection of causal genetic variants in yet-unsolved Mendelian diseases. However, the identification of disease causal genes among a list of candidates in an exome sequencing study is still not fully settled, and it is often difficult to prioritize candidate genes for follow-up studies. The… (More)
DOI: 10.1093/bioinformatics/btw381

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