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Article

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

Bioinformatics (Oxford, England) - 15 Oct 2016

Hsu Jacob Shujui, Kwan Johnny S H, Pan Zhicheng, Garcia-Barcelo Maria-Mercè, Sham Pak Chung, Li Miaoxin

Abstract excerpt

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 inheritance mode provides crucial information for understanding...

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PMID: 27354691
DOI: 10.1093/bioinformatics/btw381

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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