title: A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.
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.
authors.affiliation: Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, China. mxli@hku.hk
authors.forename: Miao-Xin
authors.initials: MX
authors.lastname: Li
authors.forename: Hong-Sheng
authors.initials: HS
authors.lastname: Gui
authors.forename: Johnny S H
authors.initials: JS
authors.lastname: Kwan
authors.forename: Su-Ying
authors.initials: SY
authors.lastname: Bao
authors.forename: Pak C
authors.initials: PC
authors.lastname: Sham
mesh_terms: D059472:Exome; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D016015:Logistic Models; D009154:Mutation; D060066:Protein Interaction Maps; D017422:Sequence Analysis, DNA; D012984:Software