期刊
NUCLEIC ACIDS RESEARCH
卷 40, 期 7, 页码 -出版社
OXFORD UNIV PRESS
DOI: 10.1093/nar/gkr1257
关键词
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资金
- Hong Kong Research Grants Council (GRF) [HKU 774707, HKU 768610M]
- European Community
- Small Project Funding [HKU 201007176166]
- University of Hong Kong Strategic Research Theme on Genomics
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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