Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes
Journal
Bioinformatics
Journal Volume
32
Journal Issue
20
Pages
3065
Date Issued
2016
Author(s)
Abstract
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 inheritance mode provides crucial information for understanding Mendelian diseases, but none of the existing gene prioritization tools fully utilize this information.
Publisher
OXFORD UNIV PRESS
Type
journal article