https://scholars.lib.ntu.edu.tw/handle/123456789/431802
Title: | Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes | Authors: | Jacob Shujui Hsu Kwan, JS Pan, ZC Garcia-Barcelo, MM Sham, PC Li, MX |
Issue Date: | 2016 | Publisher: | OXFORD UNIV PRESS | Journal Volume: | 32 | Journal Issue: | 20 | Start page/Pages: | 3065 | Source: | Bioinformatics | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/431802 | ISSN: | 1367-4803 | DOI: | 10.1093/bioinformatics/btw381 |
Appears in Collections: | 基因體暨蛋白體醫學研究所 |
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