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Title :¡¡Testing for genetic associations in arbitrarily structured populations

We present a new statistical test of association between a trait and genetic markers, which we theoretically and practically prove to be robust to arbitrarily complex population structure. The statistical test involves a set of parameters that can be directly estimated from large-scale genotyping data, such as those measured in genome-wide associations studies. We also derive a new set of methodologies, called a genotype-conditional association test, shown to provide accurate association tests in populations with complex structures, manifested in both the genetic and non-genetic contributions to the trait. We demonstrate the proposed method on a large simulation study and on the real data. Our proposed framework provides a substantially different approach to the problem from existing methods.


Education and Training

2001 B.S. Statistics, Seoul National University

2003 M.S. Statistics, Seoul National University

2008 Ph.D. Statistics, The University of Chicago


2016 - present Assistant Professor, Department of Statistics, Sookmyung Women¡¯s University

2015 - 2016 Assistant Professor, Department of Mathematics and Statistics, University of Nevada, Reno

2012 - 2015 Postdoctoral Fellow, Biostatistics Branch, Division of Cancer Epidemiology and Ge- netics, National Cancer Institute, National Institutes of Health

2008 - 2011 Postdoctoral Research Associate, the Lewis-Sigler Institute for Integrative Genomics, Princeton University


Publications

Song, M. and Nicolae, D. L. (2009), ¡°Restricted parameter space models for testing gene-gene interaction¡±, Genetic Epidemiology, 33(5), 386-393

De la Cruz, O., Wen, X., Ke, B., Song, M., and Nicolae, D. L. (2010), ¡°Gene, region and pathway level analyses in whole-genome studies¡±, Genetic Epidemiology, 34(3), 222-231

Song, M., Kraft, P., Joshi, A., Barrdahl, M., and Chatterjee, N. (2015), ¡°Testing calibration of risk models at extremes of disease risk ¡±, Biostatistics, 16(1), 143-154

Hosgood, H. D., Song, M., ..., Chanock, S. J., Rothman, N., Lan, Q.(2015) , ¡°Interactions between household air pollution and GWAS-identified lung cancer sus- ceptibility markers in the Female Lung Cancer Consortium in Asia (FLCCA)¡±, Joint first author, Human Genetics , 134(3), 333-341

Song,M., Hao, W., and Storey, J. D. (2015), ¡°Testing for genetic associations in arbitrarily structured populations¡±, Joint first author, Nature Genetics, 47(5), 550-554

Song, M. (2015), ¡°Jackknife-based gene-gene interaction tests for untyped SNPs¡±, BMC Genetics, 16:85, doi:10.1186/s12863-015-0225-9

Hao, W., Song,M., and Storey, J. D. (2016), ¡°Probabilistic models of genetic variation in structured populations applied to global human studies¡±, Joint first author, Bioinformatics, 32(5), 713-721

Wang, Z., Seow, W. J., ... , Song, M., .... , Chanock, S. J., Rothman, N., and Lan, Q. (2016), ¡°Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women¡±, Human Molecular Genetics, 1:25(3), 620-629

Seow, W.J., Matsuo, K., Shiraishi, K., Hosgood, H.D., Song, M.,..., Chanock, S. J., Rothman, N., and Lan, Q. (2016), ¡°Association between GWAS-identified lung adenocarcinoma susceptibility loci and EGFR mutation in never-smoking Asian women ¡±, Joint first author, Human Molecular Genetics, 26(2), 454-465

Song, M., Wheeler, W., Caporaso, N.E., Landi, M.T., and Chatterjee, N.(2018), ¡°Using imputed genotype data in the joint score tests for genetic association and gene-environment interactions in case-control studies¡±, Genetic Epidemiology, 42(2), 146-155

Rudolph, A., Song, M., Brook, M.N., ...., Chatterjee, N., Chang-Claude, J., Garca- Closas, M. (2018), ¡° Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium¡±, International Journal of Epidemiology, doi: 10.1093/ije/dyx242.

Song, M.(2018), ¡°A unified genetic association test robust to population structure for count phenotype ¡±, Statistics in Medicine, 1-14, https://doi.org/10.1002/sim.7634¡¡

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