Miao Xin Li

Summary

Affiliation: The University of Hong Kong
Country: China

Publications

  1. pmc Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies
    Miao Xin Li
    Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People s Republic of China
    PLoS Genet 9:e1003143. 2013
  2. pmc A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
    Miao Xin Li
    Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, China
    Nucleic Acids Res 40:e53. 2012
  3. pmc A knowledge-based weighting framework to boost the power of genome-wide association studies
    Miao Xin Li
    Department of Biochemistry, The University of Hong Kong, Hong Kong, China
    PLoS ONE 5:e14480. 2010
  4. pmc Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets
    Miao Xin Li
    Department of Psychiatry, The University of Hong Kong, Pokfulam, Hong Kong
    Hum Genet 131:747-56. 2012
  5. pmc GATES: a rapid and powerful gene-based association test using extended Simes procedure
    Miao Xin Li
    Department of Psychiatry and State Key Laboratory for Cognitive and Brain Sciences, The University of Hong Kong, Pokfulam, Hong Kong
    Am J Hum Genet 88:283-93. 2011
  6. doi request reprint Power of transmission/disequilibrium tests in admixed populations
    Miao Xin Li
    Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong SAR, China
    Genet Epidemiol 32:434-44. 2008
  7. pmc HYST: a hybrid set-based test for genome-wide association studies, with application to protein-protein interaction-based association analysis
    Miao Xin Li
    Department of Psychiatry, The University of Hong Kong, Pokfulam, Hong Kong
    Am J Hum Genet 91:478-88. 2012
  8. pmc Identification of genes with allelic imbalance on 6p associated with nasopharyngeal carcinoma in southern Chinese
    Yan Li
    Department of Biochemistry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, People s Republic of China
    PLoS ONE 6:e14562. 2011
  9. doi request reprint IGG3: a tool to rapidly integrate large genotype datasets for whole-genome imputation and individual-level meta-analysis
    Miao Xin Li
    Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong
    Bioinformatics 25:1449-50. 2009

Detail Information

Publications9

  1. pmc Predicting mendelian disease-causing non-synonymous single nucleotide variants in exome sequencing studies
    Miao Xin Li
    Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People s Republic of China
    PLoS Genet 9:e1003143. 2013
    ....
  2. pmc A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
    Miao Xin Li
    Department of Psychiatry, University of Hong Kong, Pokfulam, Hong Kong, China
    Nucleic Acids Res 40:e53. 2012
    ..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...
  3. pmc A knowledge-based weighting framework to boost the power of genome-wide association studies
    Miao Xin Li
    Department of Biochemistry, The University of Hong Kong, Hong Kong, China
    PLoS ONE 5:e14480. 2010
    ..However, a challenging question is how to utilize available resources that are very heterogeneous to quantitatively evaluate the statistic significances...
  4. pmc Evaluating the effective numbers of independent tests and significant p-value thresholds in commercial genotyping arrays and public imputation reference datasets
    Miao Xin Li
    Department of Psychiatry, The University of Hong Kong, Pokfulam, Hong Kong
    Hum Genet 131:747-56. 2012
    ....
  5. pmc GATES: a rapid and powerful gene-based association test using extended Simes procedure
    Miao Xin Li
    Department of Psychiatry and State Key Laboratory for Cognitive and Brain Sciences, The University of Hong Kong, Pokfulam, Hong Kong
    Am J Hum Genet 88:283-93. 2011
    ..The proposed test, implemented in an open-source package, has the potential to identify additional novel disease-susceptibility genes for complex diseases from large GWAS datasets...
  6. doi request reprint Power of transmission/disequilibrium tests in admixed populations
    Miao Xin Li
    Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong SAR, China
    Genet Epidemiol 32:434-44. 2008
    ..This study clarifies the potential influence of population admixture on the performance of TDTs...
  7. pmc HYST: a hybrid set-based test for genome-wide association studies, with application to protein-protein interaction-based association analysis
    Miao Xin Li
    Department of Psychiatry, The University of Hong Kong, Pokfulam, Hong Kong
    Am J Hum Genet 91:478-88. 2012
    ..These results indicate that HYST can be effectively used to examine a collection of predefined SNP sets based on prior biological knowledge for revealing additional disease-predisposing genes of modest effects in GWASs...
  8. pmc Identification of genes with allelic imbalance on 6p associated with nasopharyngeal carcinoma in southern Chinese
    Yan Li
    Department of Biochemistry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, Special Administrative Region, People s Republic of China
    PLoS ONE 6:e14562. 2011
    ..05). Our study demonstrates that multiple chromosome 6p susceptibility loci contribute to the risk of NPC, possibly though GABBR1 and NEDD9 loss of function...
  9. doi request reprint IGG3: a tool to rapidly integrate large genotype datasets for whole-genome imputation and individual-level meta-analysis
    Miao Xin Li
    Department of Biochemistry, The University of Hong Kong, Pokfulam, Hong Kong
    Bioinformatics 25:1449-50. 2009
    ..g. Affymetrix Genome-Wide Human SNP Array 6.0 and Illumina Human1m-duo) and in HapMap III project on an ordinary desktop computer. AVAILABILITY: (http://bioinfo.hku.hk/iggweb) (version 3.0)...