Jacob Shujui HsuKwan, JSJSKwanPan, ZCZCPanGarcia-Barcelo, MMMMGarcia-BarceloSham, PCPCShamLi, MXMXLi2019-11-202019-11-2020161367-4803https://scholars.lib.ntu.edu.tw/handle/123456789/431802Exome 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.enInheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genesjournal article10.1093/bioinformatics/btw381273546912-s2.0-84995427080WOS:000386020700003https://api.elsevier.com/content/abstract/scopus_id/84995427080