Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

Miao-Xin Li; Johnny S. H. Kwan; Su-Ying Bao; Wanling Yang; Shu-Leong Ho; Yong-Qiang Song; Pak C. Sham

doi:10.1371/journal.pgen.1003143

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Open Access

Peer-reviewed

Research Article

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

Miao-Xin Li ,

Contributed equally to this work with: Miao-Xin Li, Johnny S. H. Kwan

* E-mail: mxli@hku.hk (M-XL); pcsham@hku.hk (PCS)

Affiliations Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China, Centre for Reproduction, Development and Growth, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China, Centre for Genomic Sciences, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China
⨯
Johnny S. H. Kwan ,

Contributed equally to this work with: Miao-Xin Li, Johnny S. H. Kwan

Affiliations Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China, Department of Medicine, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China
⨯
Su-Ying Bao,

Affiliation Department of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China
⨯
Wanling Yang,

Affiliation Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China
⨯
Shu-Leong Ho,

Affiliation Department of Medicine, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China
⨯
Yong-Qiang Song,

Affiliation Department of Biochemistry, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China
⨯
Pak C. Sham

* E-mail: mxli@hku.hk (M-XL); pcsham@hku.hk (PCS)

Affiliations Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China, Centre for Reproduction, Development and Growth, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China, Centre for Genomic Sciences, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China, State Key Laboratory for Cognitive and Brain Sciences, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People′s Republic of China
⨯

Predicting Mendelian Disease-Causing Non-Synonymous Single Nucleotide Variants in Exome Sequencing Studies

Miao-Xin Li,
Johnny S. H. Kwan,
Su-Ying Bao,
Wanling Yang,
Shu-Leong Ho,
Yong-Qiang Song,
Pak C. Sham

Published: January 17, 2013
https://doi.org/10.1371/journal.pgen.1003143

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