Genotype Imputation for Latinos Using the HapMap and 1000 Genomes Project Reference Panels.

作者: Xiaoyi Gao , Talin Haritunians , Paul Marjoram , Roberta Mckean-Cowdin , Mina Torres

DOI: 10.3389/FGENE.2012.00117

关键词:

摘要: Genotype imputation is a vital tool in genome-wide association studies (GWAS) and meta-analyses of multiple GWAS results. Imputation enables researchers to increase genomic coverage pool data generated using different genotyping platforms. HapMap samples are often employed as the reference panel. More recently, 1000 Genomes Project resource becoming primary source for panels. Multiple targeting Latinos, most populous fastest growing minority group US. However, genotype resources Latinos rather limited compared individuals European ancestry at present, largely because lack good data. One choice panel one derived from population Mexican Los Angeles contained Phase 3 project Project. detailed evaluation quality imputed genotypes public panels has not yet been reported. Using simulation studies, Illumina OmniExpress Angles Latino Eye Study MACH software package, we evaluated accuracy Latinos. Our results show that AMR+CEU+YRI provides highest also including Asian can reduce accuracy. We provide each autosomal chromosome serve guide future imputation-based analysis

参考文章(37)
Rohit Varma, Sylvia H Paz, Stanley P Azen, Ronald Klein, Denise Globe, Mina Torres, Chrisandra Shufelt, Susan Preston-Martin, Los Angeles Latino Eye Study Group, The Los Angeles Latino Eye Study: design, methods, and baseline data Ophthalmology. ,vol. 111, pp. 1121- 1131 ,(2004) , 10.1016/J.OPHTHA.2004.02.001
Yu-Fang Pei, Jian Li, Lei Zhang, Christopher J. Papasian, Hong-Wen Deng, Analyses and Comparison of Accuracy of Different Genotype Imputation Methods PLOS ONE. ,vol. 3, ,(2008) , 10.1371/JOURNAL.PONE.0003551
Yi-Ping Fu, D. Michael Hallman, Victor H. Gonzalez, Barbara E. K. Klein, Ronald Klein, M. Geoffrey Hayes, Nancy J. Cox, Graeme I. Bell, Craig L. Hanis, Identification of Diabetic Retinopathy Genes through a Genome-Wide Association Study among Mexican-Americans from Starr County, Texas Journal of Ophthalmology. ,vol. 2010, pp. 861291- ,(2010) , 10.1155/2010/861291
Li Li, Yun Li, Sharon R. Browning, Brian L. Browning, Andrew J. Slater, Xiangyang Kong, Jennifer L. Aponte, Vincent E. Mooser, Stephanie L. Chissoe, John C. Whittaker, Matthew R. Nelson, Margaret Gelder Ehm, Performance of Genotype Imputation for Rare Variants Identified in Exons and Flanking Regions of Genes PLoS ONE. ,vol. 6, pp. e24945- ,(2011) , 10.1371/JOURNAL.PONE.0024945
Yun Ju Sung, Lihua Wang, Tuomo Rankinen, Claude Bouchard, D.C. Rao, Performance of genotype imputations using data from the 1000 Genomes Project. Human Heredity. ,vol. 73, pp. 18- 25 ,(2012) , 10.1159/000334084
Jonathan K. Pritchard, Molly Przeworski, Linkage Disequilibrium in Humans: Models and Data American Journal of Human Genetics. ,vol. 69, pp. 1- 14 ,(2001) , 10.1086/321275
Sharon R. Browning, Brian L. Browning, Haplotype phasing: existing methods and new developments Nature Reviews Genetics. ,vol. 12, pp. 703- 714 ,(2011) , 10.1038/NRG3054
Bryan Howie, Jonathan Marchini, Matthew Stephens, Genotype Imputation with Thousands of Genomes G3: Genes, Genomes, Genetics. ,vol. 1, pp. 457- 470 ,(2011) , 10.1534/G3.111.001198
Daniel Shriner, Adebowale Adeyemo, Guanjie Chen, Charles N. Rotimi, Practical considerations for imputation of untyped markers in admixed populations Genetic Epidemiology. ,vol. 34, pp. 258- 265 ,(2009) , 10.1002/GEPI.20457