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Scientific Staff

Dr. Miaoxin Li

BSc & MSc (Hunan Normal Uni.), PhD (HKU)

HONORARY Assistant Professor, Department of Psychiatry

  • Personal Info
  • Research Interests


Department of Psychiatry page: Dr. Li's webpage
Tools: KGG  KGGSeq  GEC  IGG


E-mail:    mxli @ hku.hk



Methodological innovations in bioinformatics and statistical genetics
A substantial part of my recent research is to develop new statistics and bioinformatics methods to optimize the utilization of genetic data and biological function resources for the identification of loci or genes responsible for human disorders. I have developed a series of statistical and bioinformatics methods to integrate multiple genomic resources and conventional genetic statistics into a more powerful unified analysis framework to detect Single-nucleotide polymorphisms (SNPs) or genes contributing to human genetic disorders. These include, a rapid and powerful gene-based statistical association test for genome-wide association studies (GWAS) [Li MX et al. Am J Hum Genet. 2011;88(3):283-93], a hybrid statistical test for protein-protein interaction-bases association analysis in GWAS [Li MX et al. Am J Hum Genet. 2012;91(3):478-88], a comprehensive framework to prioritize sequence variants in exome sequencing studies of Mendelian diseases [Li MX et al. Nucleic Acids Res. 2012;40(7):e53], a effective framework to merge huge amount of genotypes from high-throughput arrays for whole genome linkage/association analysis [Li MX et al. Bioinformatics. 2009;25(11):1449-50]. Currently, I am developing methods and software tools to integrate genomic evidences for the identification of rare and common susceptibility loci to Mendelian and complex diseases using next-generation sequencing data, including whole-exome sequencing, whole-genome sequencing and whole-transcriptome shotgun sequencing.

Genetic linkage and association analysis for a series of specific human diseases
I am also interested in unraveling genes or genetic loci of human disorders, using my own and other’s methods/software tools. Collaborating with some clinical doctors and colleagues, we have successfully identified a number of novel mutations or susceptibility loci of human diseases, including the -459C>T of GJB1 of Charcot-Marie-Tooth neuropathy [Li MX et al. Peripher Nerv Syst. 2009;14(1):14-21], the c.1528G>C of TGM6 of Spinocerebellar ataxia [Li MX et al, Clin Genet. 2012 May 3 (In press)], several novel missense mutations susceptible to Hepatitis B Infection [Zhao Q, ..., Li MX et al. Hepatology. Hepatology. 2012 56(5):1661-70] and a locus in Chromosome X for Schizophrenia [Wong E, So HC, Li MX et al. Under review]. There are also several on-going disease gene mapping projects, including the atrial standstill, familial spastic paraplegias and hepatocellular carcinoma.