A Comprehensive Framework for Prioritizing Variants in Exome Sequencing Studies of Mendelian Diseases

Overview

Journal Nucleic Acids Res

Publisher Oxford University Press

Specialty Biochemistry

Date 2012 Jan 14

PMID 22241780

Citations 127

Authors

Miao-Xin Li

Hong-Sheng Gui

Johnny S H Kwan

Su-Ying Bao

Pak C Sham

Affiliations

Soon will be listed here.

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.

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