We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.
- Authors
Li, Miao-Xin; Gui, Hong-Sheng; Kwan, Johnny S H; Bao, Su-Ying; Sham, Pak C
- Abstract
Exome sequencing strategy is promising for finding novel mutations of human monogenic disorders. However, pinpointing the casual mutation in a small number of samples is still a big challenge. Here, we propose a three-level filtration and prioritization framework to identify the casual mutation(s) in exome sequencing studies. This efficient and comprehensive framework successfully narrowed down whole exome variants to very small numbers of candidate variants in the proof-of-concept examples. The proposed framework, implemented in a user-friendly software package, named KGGSeq (http://statgenpro.psychiatry.hku.hk/kggseq), will play a very useful role in exome sequencing-based discovery of human Mendelian disease genes.
- Publication
Nucleic acids research, 2012, Vol 40, Issue 7, pe53
- ISSN
1362-4962
- Publication type
Journal Article
- DOI
10.1093/nar/gkr1257