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Miao-Xin Li
Academic qualifications
 2006.8-2009.12 Doctor of Philosophy (PhD), Research area: Bioinformatics and Statistical
Genetics, the University of Hong Kong, Hong Kong
 2001.9-2004.6 Master of Science, Research area: Bioinformatics and Statistical Genetics, Hunan
Normal University, Changsha, P.R.China
 1997.9-2001.6 Bachelor of Science, Biotechnology, Hunan Normal University, Changsha,
P.R.China
Present position
2013.1-Present
Research Assistant Professor, Research area: Statistical Genetics and
Bioinformatics, Faculty of Medicine, the University of Hong Kong, Hong Kong
Past position
2004.10-2006.6 Assistant investigator, Shanghai Center for Bioinformation Technology
(http://www.scbit.org), Shanghai, P.R.C.
2010.1-2013.1 Postdoctoral fellow, Research area: Statistical Genetics and Bioinformatics,
Faculty of Medicine, the University of Hong Kong, Hong Kong
Research description
I have devoted myself to develop advanced statistical and bioinformatics methods for identifying
genetic factors responsible for human diseases, and their application to specific human diseases,
which are my primary research interests as well, for over ten years with over 40 peer-reviewed
research articles. Some research results were published on top professorial journals in genetics
and bioinformatics fields, including American Journal of Human Genetics (IF=11.2), PLOS
Genetics (IF=8.5), Nucleic Acids Research (IF=8.3). As the primary investigator, I have
developed a series of novel integrative approaches and software tools (e.g., KGGSeq, KGG, PI,
and IGG) to combine the bioinformatics and statistical genetic information to more powerfully
identify genetic risk factors of human diseases. Subsequently, I have succeeded in applying these
methods to identify genetic factors of a number of diseases, including Charcot-Marie-Tooth
neuropathy, spinocerebellar ataxia and Schizophrenia. Meanwhile, these tools are also being used
by many international researchers. Please see more my relevant research on my homepage,
http://statgenpro.psychiatry.hku.hk/limx/homepage/.
Representative publications from past 5 years
1. Li MX*, Kwan JS*, Bao SY, Yang W, Ho SL, Song YQ, Sham PC. Predicting mendelian
disease-causing non-synonymous single nucleotide variants in exome sequencing studies. PLoS
Genet. 2013;9(1):e1003143.
2. Li MX*, Kwan JS*, Sham PC. HYST: A Hybrid Set-Based Test for Genome-wide Association
Studies, with Application to Protein-Protein Interaction-Based Association Analysis. Am J Hum
Genet. 2012;91(3):478-88.
3. Li MX, Gui HS, Kwan JS, Bao SY, Sham PC. A comprehensive framework for prioritizing
variants in exome sequencing studies of Mendelian diseases. Nucleic Acids Res. 2012;40(7):e53.
Epub 2012 Jan 12.
4. Li MX, Gui HS, Kwan JS, Sham PC. GATES: a rapid and powerful gene-based association test
using extended Simes procedure. Am J Hum Genet. 2011;88(3):283-93.
5. Li MX, Sham PC, Cherny SS, Song YQ. A knowledge-based weighting framework to boost the
power of genome-wide association studies. PLoS One. 2010;5(12):e14480.
*: First co-authored
Older representative publications
1. Li MX, Jiang L, Ho SL, Song YQ, Sham PC. IGG: A tool to integrate GeneChips for genetic
studies. Bioinformatics. 2007;23(22):3105-7.
2. Zhao LJ*, Li MX*, Guo YF, Xu FH, Li JL, Deng HW. SNPP: automating large-scale SNP
genotype data management. Bioinformatics. 2005;21(2):266-8.
3. Li JL, Li MX, Deng HY, Duffy PE, Deng HW. PhD: a web database application for phenotype
data management. Bioinformatics. 2005;21(16):3443-4.
4. MX Li, PY Liu, Li YM, Qin YJ, Liu YZ, Deng HW. A major gene model of adult height is
suggested in Chinese. J Hum Genet. 2004; 49(3): 148-53.
5. Deng HW, Li YM, Li MX, Liu PY. Robust Indices of Hardy-Weinberg Disequilibrium for QTL
Fine Mapping. Hum Hered. 2003; 56(4): 160-5.
Awards and distinctions
2011.11 Hong Kong Young Scientist Award, finalists’ recognition.
2003.12 Outstanding Graduate Students for Scientific Research of Hunan Normal University
2000.10 Practices and Innovation Award of Hunan Normal University
*: First co-authored