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Nucleic Acids Res. 2012 Apr;40(7):e53. doi: 10.1093/nar/gkr1257. Epub 2012 Jan 12.

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases.

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  • 1Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, China.


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 (, will play a very useful role in exome sequencing-based discovery of human Mendelian disease genes.

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