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

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

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KGGSeq classification

  • Animals
    • Homo sapiens

KGGSeq specifications

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  • ISPP

KGGSeq distribution


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KGGSeq support


  • Miaoxin Li <>


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Department of Psychiatry; State Key Laboratory for Cognitive and Brain Sciences; Centre for Reproduction, Development and Growth; Genome Research Centre; Department of Medicine; Department of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, China

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