Fast and accurate inference of local ancestry in Latino populations

被引:178
作者
Baran, Yael [3 ]
Pasaniuc, Bogdan [1 ,2 ,4 ]
Sankararaman, Sriram [4 ,5 ]
Torgerson, Dara G. [6 ,7 ]
Gignoux, Christopher [6 ,7 ]
Eng, Celeste [6 ,7 ]
Rodriguez-Cintron, William [8 ]
Chapela, Rocio [9 ]
Ford, Jean G. [10 ]
Avila, Pedro C. [11 ]
Rodriguez-Santana, Jose [12 ]
Burchard, Esteban Gonzalez [6 ,7 ]
Halperin, Eran [3 ,13 ,14 ]
机构
[1] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA
[2] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA
[3] Tel Aviv Univ, Blavatnik Sch Comp Sci, IL-69978 Tel Aviv, Israel
[4] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA
[5] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA
[6] Univ Calif San Francisco, Dept Bioengn & Therapeut Sci, San Francisco, CA 94158 USA
[7] Univ Calif San Francisco, Dept Med, San Francisco, CA 94158 USA
[8] Vet Caribbean Hlth Care Syst, San Juan, PR 00927 USA
[9] INER, Mexico City 14080, DF, Mexico
[10] Johns Hopkins Bloomberg Sch Publ Hlth, Baltimore, MD 21231 USA
[11] Northwestern Univ, Dept Med, Feinberg Sch Med, Div Allergy Immunol, Chicago, IL 60611 USA
[12] CSP, Ctr Neumol Pediat, San Juan, PR 00917 USA
[13] Tel Aviv Univ, George Wise Fac Life Sci, Dept Mol Microbiol & Biotechnol, IL-69978 Tel Aviv, Israel
[14] Int Comp Sci Inst, Berkeley, CA 94704 USA
基金
美国国家卫生研究院;
关键词
ADMIXTURE; RECOMBINATION; DISEASE; LOCUS;
D O I
10.1093/bioinformatics/bts144
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
Results: To address these challenges we introduce here methods for local ancestry inference which leverage the structure of linkage disequilibrium in the ancestral population (LAMP-LD), and incorporate the constraint of Mendelian segregation when inferring local ancestry in nuclear family trios (LAMP-HAP). Our algorithms uniquely combine hidden Markov models (HMMs) of haplotype diversity within a novel window-based framework to achieve superior accuracy as compared with published methods. Further, unlike previous methods, the structure of our HMM does not depend on the number of reference haplotypes but on a fixed constant, and it is thereby capable of utilizing large datasets while remaining highly efficient and robust to over-fitting. Through simulations and analysis of real data from 489 nuclear trio families from the mainland US, Puerto Rico and Mexico, we demonstrate that our methods achieve superior accuracy compared with published methods for local ancestry inference in Latinos.
引用
收藏
页码:1359 / 1367
页数:9
相关论文
共 32 条
[1]   A haplotype map of the human genome [J].
Altshuler, D ;
Brooks, LD ;
Chakravarti, A ;
Collins, FS ;
Daly, MJ ;
Donnelly, P ;
Gibbs, RA ;
Belmont, JW ;
Boudreau, A ;
Leal, SM ;
Hardenbol, P ;
Pasternak, S ;
Wheeler, DA ;
Willis, TD ;
Yu, FL ;
Yang, HM ;
Zeng, CQ ;
Gao, Y ;
Hu, HR ;
Hu, WT ;
Li, CH ;
Lin, W ;
Liu, SQ ;
Pan, H ;
Tang, XL ;
Wang, J ;
Wang, W ;
Yu, J ;
Zhang, B ;
Zhang, QR ;
Zhao, HB ;
Zhao, H ;
Zhou, J ;
Gabriel, SB ;
Barry, R ;
Blumenstiel, B ;
Camargo, A ;
Defelice, M ;
Faggart, M ;
Goyette, M ;
Gupta, S ;
Moore, J ;
Nguyen, H ;
Onofrio, RC ;
Parkin, M ;
Roy, J ;
Stahl, E ;
Winchester, E ;
Ziaugra, L ;
Shen, Y .
NATURE, 2005, 437 (7063) :1299-1320
[2]  
Bercovici S., 2012, P 16 ANN INT C RES C
[3]   Identifying Signatures of Natural Selection in Tibetan and Andean Populations Using Dense Genome Scan Data [J].
Bigham, Abigail ;
Bauchet, Marc ;
Pinto, Dalila ;
Mao, Xianyun ;
Akey, Joshua M. ;
Mei, Rui ;
Scherer, Stephen W. ;
Julian, Colleen G. ;
Wilson, Megan J. ;
Herraez, David Lopez ;
Brutsaert, Tom ;
Parra, Esteban J. ;
Moore, Lorna G. ;
Shriver, Mark D. .
PLOS GENETICS, 2010, 6 (09)
[4]   Genome-wide patterns of population structure and admixture among Hispanic/Latino populations [J].
Bryc, Katarzyna ;
Velez, Christopher ;
Karafet, Tatiana ;
Moreno-Estrada, Andres ;
Reynolds, Andy ;
Auton, Adam ;
Hammer, Michael ;
Bustamante, Carlos D. ;
Ostrer, Harry .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2010, 107 :8954-8961
[5]   Lower bronchodilator responsiveness in Puerto Rican than in Mexican subjects with asthma [J].
Burchard, EG ;
Avila, PC ;
Nazario, S ;
Casal, J ;
Torres, A ;
Rodriguez-Santan, JR ;
Toscano, M ;
Sylvia, JS ;
Alioto, M ;
Salazar, M ;
Gomez, I ;
Fagan, JK ;
Salas, J ;
Lilly, C ;
Matallana, H ;
Ziv, E ;
Castro, R ;
Selman, M ;
Chapela, R ;
Sheppard, D ;
Weiss, ST ;
Ford, JG ;
Boushey, HA ;
Rodriguez-Cintron, W ;
Drazen, JM ;
Silverman, EK .
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2004, 169 (03) :386-392
[6]   Latino populations: A unique opportunity for the study of race, genetics, and social environment in epidemiological research [J].
Burchard, EG ;
Borrell, LN ;
Choudhry, S ;
Naqvi, M ;
Tsai, HJ ;
Rodriguez-Santana, JR ;
Chapela, R ;
Rogers, SD ;
Mei, R ;
Rodriguez-Cintron, W ;
Arena, JF ;
Kittles, R ;
Perez-Stable, EJ ;
Ziv, E ;
Risch, N .
AMERICAN JOURNAL OF PUBLIC HEALTH, 2005, 95 (12) :2161-2168
[7]  
Carrion A., 1983, PUERTO RICO POLITICA
[8]   Genomic Ancestry of North Africans Supports Back-to-Africa Migrations [J].
Henn, Brenna M. ;
Botigue, Laura R. ;
Gravel, Simon ;
Wang, Wei ;
Brisbin, Abra ;
Byrnes, Jake K. ;
Fadhlaoui-Zid, Karima ;
Zalloua, Pierre A. ;
Moreno-Estrada, Andres ;
Bertranpetit, Jaume ;
Bustamante, Carlos D. ;
Comas, David .
PLOS GENETICS, 2012, 8 (01)
[9]   The landscape of recombination in African Americans [J].
Hinch, Anjali G. ;
Tandon, Arti ;
Patterson, Nick ;
Song, Yunli ;
Rohland, Nadin ;
Palmer, Cameron D. ;
Chen, Gary K. ;
Wang, Kai ;
Buxbaum, Sarah G. ;
Akylbekova, Ermeg L. ;
Aldrich, Melinda C. ;
Ambrosone, Christine B. ;
Amos, Christopher ;
Bandera, Elisa V. ;
Berndt, Sonja I. ;
Bernstein, Leslie ;
Blot, William J. ;
Bock, Cathryn H. ;
Boerwinkle, Eric ;
Cai, Qiuyin ;
Caporaso, Neil ;
Casey, Graham ;
Cupples, L. Adrienne ;
Deming, Sandra L. ;
Diver, W. Ryan ;
Divers, Jasmin ;
Fornage, Myriam ;
Gillanders, Elizabeth M. ;
Glessner, Joseph ;
Harris, Curtis C. ;
Hu, Jennifer J. ;
Ingles, Sue A. ;
Isaacs, William ;
John, Esther M. ;
Kao, W. H. Linda ;
Keating, Brendan ;
Kittles, Rick A. ;
Kolonel, Laurence N. ;
Larkin, Emma ;
Le Marchand, Loic ;
McNeill, Lorna H. ;
Millikan, Robert C. ;
Murphy, Adam ;
Musani, Solomon ;
Neslund-Dudas, Christine ;
Nyante, Sarah ;
Papanicolaou, George J. ;
Press, Michael F. ;
Psaty, Bruce M. ;
Reiner, Alex P. .
NATURE, 2011, 476 (7359) :170-U67
[10]   Design and analysis of admixture mapping studies [J].
Hoggart, CJ ;
Shriver, MD ;
Kittles, RA ;
Clayton, DG ;
McKeigue, PM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 74 (05) :965-978