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

Jacob Shujui Hsu | Zendy; Johnny S. H. Kwan | Zendy; Zhicheng Pan | Zendy; María-Mercé García-Barceló | Zendy; Pak C. Sham | Zendy; Miaoxin Li | Zendy

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

Author(s) -

Jacob Shujui Hsu,

Johnny S. H. Kwan,

Zhicheng Pan,

María-Mercé García-Barceló,

Pak C. Sham,

Miaoxin Li

Publication year - 2016

Publication title -

bioinformatics

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/btw381

Subject(s) - genetics , haploinsufficiency , mendelian inheritance , gene , biology , exome , exome sequencing , inheritance (genetic algorithm) , omim : online mendelian inheritance in man , candidate gene , computational biology , mutation , phenotype

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.

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