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¼¿ï´ëÇб³ »ý¹°Á¤º¸ÇÐ Çùµ¿°úÁ¤ ÁÖÃÖ·Î ¼¼¹Ì³ª¸¦ ¾Æ·¡¿Í °°ÀÌ ¿°íÀÚ ÇÏ¿À´Ï,¡¡¸¹Àº Âü¿© ¹Ù¶ø´Ï´Ù.¡¡ ¡¡ ÀϽÃ: 2018³â¡¡03¿ù¡¡08ÀÏ ¸ñ¿äÀÏ ¿ÀÈÄ¡¡5½Ã ¿¬»ç:¡¡¼Û¹Î¼±¡¡(¼÷¸í¿©´ë) Àå¼Ò:¡¡¼¿ï´ëÇб³¡¡25µ¿¡¡411È£ ¡¡ 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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