Mingyao Li, PhD
| Office Location | 213, Blockley Hall |
| Office Phone | (215)746-3916 |
| mingyao@mail.med.upenn.edu | |
| Personal Website | http://www.cceb.upenn.edu/~mli |
Faculty Information | |
| CCEB Appointment | Senior Scholar, Biostatistics |
| Primary Faculty Appointment | Assistant Professor of Biostatistics at HUP, University of Pennsylvania SOM |
Additional Positions
Member, Genomics and Computational Biology Graduate Group
Research Statement
Mingyao Li, Assistant Professor, joined the biostatistics faculty in January 2006, after received her Ph.D. in Biostatistics from the University of Michigan in 2005. Her main research area is statistical genetics. In particular, she is interested in developing statistical methods and computational tools for identifying and characterizing genetic variants that influence susceptibility to complex diseases.
She has developed methods for identifying SNPs responsible for a linkage signal by joint modeling of linkage and association, a unified statistical framework for association analysis of sibship data and unrelated cases and controls, and variance-components linkage and association analysis methods for non-normally distributed quantitative traits. Her paper on joint modeling of linkage and association won the Cotterman Award by the American Society of Human Genetics for the best paper published by a trainee member in 2005.
Her current research work involves evaluating and improving power for genome-wide association studies, developing methods for multi-marker association tests, and algorithms for detection of copy number variations using whole-genome SNP genotyping data.
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 cardiovascular disease, childhood obesity, type 2 diabetes, and autism.
Courses Taught
BSTA787: Methods for Statistical Genetics in Complex Human Disease (2007 Spring; 2008 Spring)
Selected Publications
2009
Zhao J, Bradfield JP, Zhang H, Annaiah K, Wang K, Kim CE, Glessner JT, Frackelton EC, Otieno FG, Doran J, Thomas KA, Garris M, Hou C, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H, Grant SFA. Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. Diabetes: in press.
- Soranzo N, Spector TD, Mangino M, Khnel B, Rendon A, Teumer A, Willenborg C, Wright B, Chen L, Li M, ..., Samani NJ, Meisinger C, Greinacher A, Deloukas P, Ouwehand WH, Gieger C. A meta-analysis of eight hematological parameters identifies 22 associatedloci and extensive disease pleiotropy on chromosome 12q24. Nature Genetics 41:1182-1190. [pdf]
- Zhao J, Li M, Bradfield JP, Wang K, Zhang H, Sleiman P, Kim CE, Annaiah K, Glaberson W, Glessner JT, Otieno GF, Thomas KA, Garris M, Hou C, Frackelton EC, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF. Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes 58:2414-2418. [pdf]
- Bucan M., Abrahams B.S., Wang K., Glessner J., Herman E.I., Sonnenblick L.I., Reteuro A.I.A., Imielinski M., Hadley D., Bradfield J.P., Kim C., Gidaya N.B, Yurcaba L, Hutman T., Sigman M., Lajonchere C., Kustanovich V., Singleton A., Kim J., Li M., Cantor R.M., Grant S.F.A., Geschwind D.H., Hakonarson H.: Genome-wide analysis of exonic deletions identify novel autism susceptibility genes. PLoS Genetics 5: e1000536. [pdf]
- Brown RJ, Edmondson AC, Griffon N, Hill TB, Fuki IV, Badellino KO, Li M, Wolfe ML, Reilly MP, Rader DJ: A naturally occurring variant of endothelial lipase associated with elevated HDL exhibits impaired synthesis. Journal of Lipids Research: in press. [pdf]
- Zhao J, Bradfield JP, Li M, Wang K, Zhang H, Kim CE, Annaiah K, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SFA: The role of obesity-associated loci identified in genome wide association studies in the determination of pediatric BMI. Obesity: in press.
- Kanetsky P, Mitra N, Vardhanabhuti S, Li M, Vaughn D, Letrero R, Ciosek S, Doody D, Smith L, Weaver J, Albano A, Chen C, Starr J, Rader DJ, Godwin AK, Reilly M, Hakonarson H, Schwartz S, Nathanson K: Common variation in KITLG and at 5q31.3 proximate to SPRY4 predispose to testicular germ cell cancer. Nature Genetics 41:811-815. [pdf]
- Wang K, Zhang H, Kugathasan S, Annese V, Bradfield J, Russell RK, Sleiman PMA, Imielinski M, Glessner J, Hou C, Wilson DC, Walters T, Kim C, Cucchiara S, Frackelton EC, Limbergen JV, Guthery S, Denson L, Piccoli D, Li M, Dubinsky M, Silverberg M, Griffiths A, Grant SFA, Sansangi J, Baldassano R, Hakonarson H: Diverse genome-wide association studies associate the IL12 pathway with Crohn's disease. American Journal of Human Genetics 84: 399-405. [pdf]
- Edmonson AC, Brown RJ, Kathiresan S, Cupples LA, Demissie S, Manning A, Jensen M, Rimm EB, Wang J, Wolfe ML, DerOhannessian S, Li M, Reilly M, Evens D, Hegele RA, Rader DJ: Loss-of-function variants in endothelial lipase are a cause of elevanted high density lipoprotein cholesterol in humans. Journal of Clinical Investigation 119:1042-1050. [pdf]
- Myocardial Infarction Genetics Consortium: Genome-wide association of early-onset myocardial infarction with common single nucleotide polymorphisms, common copy number variants, and rare copy number variants. Nature Genetics 41:334-341. [pdf]
- Grant SFA, Bradfield JP, Zhang H, Wang K, Kim CE, Annaiah K, Santa E, Glessner JT, Thomas K, Garris M, Frackelton EC, Otieno FG, Shane JL, Smith RM,Imielinski M, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H: Association of MC4R with childhood obesity in European Americans does not extend to African ancestry. Obesity 17:1461-1465. [pdf]
- Li M, Abecasis GR: Linkage analysis of qualitative traits. Handbook on analyzing human genetic data. Springer Verlag.
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. [pdf]
- Keating BJ, Tischfield S, Murrary SS, ..., Li M, ..., Rader D, Hirschhorn JN, FitzGerald GA: Concept, Design and Implementation of a cardiovascular gene-centric 50K SNP array for large-scale genomic association studies. PLoS ONE v3:e3583. [pdf]
- 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. [pdf] (* corresponding author)
- Grant SFA, Li M, Bradfield JP, Kim CE, Annaiah K, Santa E, Glessner JT, Casalunovo T, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Eckert AW, Imielinski M, Chiavacci RM, Berkowitz RI, Hakonarson H: Association of HMGA2 gene variation with height in specific pediatric age categories. Genomics Insights 1:13-16.[pdf]
- Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H, Bucan M, Maris JM, Wang K: Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Research 36:e126. [pdf] [suppl material]
- Ewens W, 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.[pdf]
- Wei Z, Li M, Rebbeck T, Li H: U-statistics-based tests for multiple genes in genetic association studies. Annals of Human Genetics 72:821-833. [pdf]
- Becker DJ, Gordon RY, Morris P, Yorko J, Gordon YJ, Li M, Iqbal N: Simvastatin versus therapeutic lifestyle changes and supplements: a randomized primary prevention trial. Mayo Clinic Proceedings 83:758-764.[pdf]
- Li M, Li C: Assessing departure from Hardy-Weinberg equilibrium in the presence of disease association. Genetic Epidemiology 32:589-599. [pdf]
- Grant SFA, Li M, Bradfield J, Kim C, Annaiah K, Santa E, Glessner J, Casalunovo T, Frackelton E, Otieno F, Shaner J, Smith R, Imielinski M, Eckert A, Chiavacci R, Berkowitz R, Hakonarson H: Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP. PLoS ONE v3:e1746. [pdf]
- Song P-XK, Li M, Yuan Y: Joint regression analysis of correlated data using Gaussian copulas. Biometrics 65:60-68. [pdf]
- Vorovich E, Chuai S, Li M, Averna J, Marwin V, Wolfe D, Reilly MP, Cappola TP: Comparison of MMP-9 and BNP as clinical biomarkers in chronic heart failure. American Heart Journal 155:992-997 [pdf]
- Christie JD, Ma SF, Aplenc R, Li M, Lanken PN, Fuchs B, Albelda SM, Flores C, Garcia JGN: Variation in the MYLK gene is associated with development of acute lung injury following major trauma. Critical Care Medicine 36:2794-2800.[pdf]
- Li C, Li M, Long J, Cai Q, Zheng W: Evaluating cost efficiency of SNP chips in genome-wide association studies. Genetic Epidemiology 32:387-395. [pdf]
- 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. [pdf] [suppl Figure] [suppl Table]
- Ewens W, Li M: Comments on the entropy-based transmission/disequilibrium test. Human Genetics 123: 97-100. [pdf]
2007
- Li C, Li M: GWAsimulator: a rapid whole-genome simulation program. Bioinformatics 24:140-142. [pdf] [web]
- 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. [pdf] [web]
- Wang K, Li M, Bucan M: Pathway based approaches for analysis of genome-wide association studies. American Journal of Human Genetics 81:1278-1283. [pdf]
- Li C *, Li M *, Lange EM, Watanabe RM: Prioritized subset analysis: improving power in genome-wide association studies. Human Heredity 65:129-141 (*co-first author). [pdf]
2006
- Wei Z, Li M *: Genome-wide linkage and association analysis of rheumatoid arthritis in a Canadian population. BMC Proceedings 1:S19. [pdf] (* corresponding author)
- Li M, Atmaca-Sonmez P, Othman M, Branham KEH, Wade MS, Li Y, Liang L, Zareparsi S, Swaroop A, Abecasis GR: CFH Haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nature Genetics 38:1049-1054. [pdf]
- Li M, Boehnke M, Abecasis GR, Song P-XK: Quantitative trait linkage analysis using Gaussian copulas. Genetics 173:2317-2327. [pdf]
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 78:778-792. [pdf] [web]
- Zareparsi S, Branham KEH, Li M, Klein RJ, Ott J, Hoh J, Abecasis GR, Swaroop A: Stong association of Y402H variation in complement factor H at 1q32 with susceptibility for age-related macular degeneration. American Journal of Human Genetics 77:149-153. [pdf]
- 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. [pdf] [web]
- Zareparsi S, Buraczynski M, Branham KEH, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi S, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A: Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Human Molecular Genetics 14:1449-1455. [pdf]
