Mingyao Li, Ph.D.

Dr. Mingyao Li joined the Biostatistics faculty in 2006. She is also a faculty member of the Genomics and Computational Biology (GCB) graduate program. Her main research area is statistical genetics, bioinformatics and computational biology. In particular, she is interested in developing statistical methods and computational tools for identifying and characterizing genetic variants that influence susceptibility to complex diseases. Her current research work involves the analysis of high-throughput genetics/genomics data such as those generated from next-generation sequencing studies. She is particularly interested in the analysis of admixed populations, RNA-sequencing data, and genetics of gene expression. In addition to methods development, Dr. Li is also interested in collaborating with researchers seeking to identify complex disease susceptibility genes. Her collaborative research includes studies of the genetics of cardiometabolic diseases and eye diseases. Dr. Li actively serves in the scientific community. She is on the editorial board of Briefings in Bioinformatics, and is a regular member of the Genomics, Computational Biology and Technology (GCAT) study section and a member of the review committee of the Center for Inherited Disease Research (CIDR) of the NIH.

Selected Publications

  • Li M, Boehnke M, Abecasis GR. Joint modeling of linkage and association: identifying SNPs responsible for a linkage signal. American Journal of Human Genetics 76:934-949, 2005.

  • Li M, Boehnke M, Abecasis GR. Efficient study designs for test of genetic association using sibship data and unrelated cases and controls. American Journal of Human Genetics 78:778-992, 2006.

  • Li M, Atmaca-Sonmez P, Othman M, Branham KEH, Wade MS, Li Y, Liang L, Zareparsi S, Swaroop A, Abecasis GR. CFH haplotypes without Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nature Genetics 38:1049-1054, 2006.

  • Li M, Boehnke M, Abecasis GR, Song PXK. Quantitative trait linkage analysis using Gaussian copulas. Genetics 173:2317-2327, 2006.

  • Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SFA, Hakonarson H, Bucan M. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Research 17:1665-1674, 2007.

  • Wang K, Li M, Bucan M. Pathway-based approaches for analysis of genome-wide association studies. American Journal of Human Genetics 81:1278-1283, 2007.

  • Li M, Li C. Assessing departure from Hardy-Weinberg equilibrium in the presence of disease association. Genetic Epidemiology 32:589-599, 2008.

  • Li M, Li C, Guan W. Evaluation of coverage variation of SNP chips for genome-wide association studies. European Journal of Human Genetics 16:635-643, 2008.

  • Li C, Li M. GWAsimulator: a rapid whole-genome simulation program. Bioinformatics 24:140-142, 2008.

  • Wang K, Chen Z, Tadesse MG, Glessner J, Grant SFA, Hakonarson H, Bucan M, Li M. Modeling genetic inheritance of copy number variations. Nucleic Acids Research 36:e138, 2008.

  • Ewens WJ, Li M, Spielman RS. A review of family-based tests for linkage disequilibrium between a quantitative trait and a genetic marker. PLoS Genetics 4:e1000180, 2008.

  • Li M, Wang K, Grant SFA, Hakonarson H, Li C. ATOM: a powerful gene-based association test by combining optimally weighted markers. Bioinformatics 25: 497-503, 2009.

  • Li M, Reilly MP, Rader DJ, Wang LS. Correcting population stratification in genetic association studies using a phylogenetic approach. Bioinformatics 26:798-806, 2010.

  • Li Y, Byrnes AE, Li M. To identify associations with rare variants, just WHaIT: Weighted haplotype and imputation-based tests. American Journal of Human Genetics 87:728-735, 2010.

  • Wang K, Li M, Hakonarson H. Analyzing biological pathways in genome-wide association studies. Nature Review Genetics 11:843-854, 2010.

  • Li M*, Wang IX*, Li Y, Bruzel A, Richards A, Toung JM, Cheung VG. Widespread RNA and DNA sequence differences in the human transcriptome. Science 33:53-58, 2011.

  • Reilly MP*, Li M*, He J, Ferguson JF, Stylianou IM, ..., Rader DJ. Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. The Lancet 337:383-392, 2011.

  • Wang X, Zhu X, Qin H, Cooper R, Ewens W, Li C, Li M. Adjustment for local ancestry in genetic association analysis of admixed populations. Bioinformatics 27:670-677, 2011.

  • He J, Wang K, Edmondson AC, Rader DJ, Li C, Li M. Gene-based interaction analysis by incorporating external linkage disequilibrium information. European Journal of Human Genetics 19:164-172, 2011.

  • He J, Li H, Edmondson AC, Rader DJ, Li M. A Gaussian copula approach for the analysis of secondary phenotypes in case-control genetic association studies. Biostatistics 13:497-508, 2012.

  • Mao X, Li Y, Liu Y, Lange L, Li M. Testing genetic association with rare variants in admixed populations. Genetic Epidemiology 37:38-47, 2013.

  • Hu Y, Liu Y, Mao X, Jia C, Ferguson JF, Xue C, Reilly MP, Li H, Li M. PennSeq: accurate isoform-specific gene expression quantification in RNA-Seq by modeling non-uniform read distribution. Nucleic Acids Research 42:e20, 2014.

  • Li M, Jia C, Kazmierkiewicz KL, Bowman AS, Tian L, Liu Y, Gupta NA, Gudsieva HV, Yee SS, Kim M, Dentchev T, Kimble JA, Parker JS, Messinger JD, Curcio CA, Stambolian D. Comprehensive analysis of gene expression in human retina and supporting tissues. Human Molecular Genetics, in press, 2014.