Missing data imputation and haplotype phase inference for genome-wide association studies

被引:110
作者
Browning, Sharon R. [1 ]
机构
[1] Univ Auckland, Dept Stat, Auckland 1142, New Zealand
关键词
D O I
10.1007/s00439-008-0568-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Imputation of missing data and the use of haplotype-based association tests can improve the power of genome-wide association studies (GWAS). In this article, I review methods for haplotype inference and missing data imputation, and discuss their application to GWAS. I discuss common features of the best algorithms for haplotype phase inference and missing data imputation in large-scale data sets, as well as some important differences between classes of methods, and highlight the methods that provide the highest accuracy and fastest computational performance.
引用
收藏
页码:439 / 450
页数:12
相关论文
共 54 条
  • [1] A haplotype map of the human genome
    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
    [J]. NATURE, 2005, 437 (7063) : 1299 - 1320
  • [2] Guilt beyond a reasonable doubt
    Altshuler, David
    Daly, Mark
    [J]. NATURE GENETICS, 2007, 39 (07) : 813 - 815
  • [3] Evaluating the effects of imputation on the power, coverage, and cost efficiency of genome-wide SNP platforms
    Anderson, Carl A.
    Pettersson, Fredrik H.
    Barrett, Jeffrey C.
    Zhuang, Joanna J.
    Ragoussis, Jiannis
    Cardon, Lon R.
    Morris, Andrew P.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (01) : 112 - 119
  • [4] A dictionary model for haplotyping, genotype calling, and association testing
    Ayers, Kristin L.
    Sabatti, Chiara
    Lange, Kenneth
    [J]. GENETIC EPIDEMIOLOGY, 2007, 31 (07) : 672 - 683
  • [5] A tutorial on statistical methods for population association studies
    Balding, David J.
    [J]. NATURE REVIEWS GENETICS, 2006, 7 (10) : 781 - 791
  • [6] Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    Barrett, Jeffrey C.
    Hansoul, Sarah
    Nicolae, Dan L.
    Cho, Judy H.
    Duerr, Richard H.
    Rioux, John D.
    Brant, Steven R.
    Silverberg, Mark S.
    Taylor, Kent D.
    Barmada, M. Michael
    Bitton, Alain
    Dassopoulos, Themistocles
    Datta, Lisa Wu
    Green, Todd
    Griffiths, Anne M.
    Kistner, Emily O.
    Murtha, Michael T.
    Regueiro, Miguel D.
    Rotter, Jerome I.
    Schumm, L. Philip
    Steinhart, A. Hillary
    Targan, Stephan R.
    Xavier, Ramnik J.
    Libioulle, Cecile
    Sandor, Cynthia
    Lathrop, Mark
    Belaiche, Jacques
    Dewit, Olivier
    Gut, Ivo
    Heath, Simon
    Laukens, Debby
    Mni, Myriam
    Rutgeerts, Paul
    Van Gossum, Andre
    Zelenika, Diana
    Franchimont, Denis
    Hugot, Jean-Pierre
    de Vos, Martine
    Vermeire, Severine
    Louis, Edouard
    Cardon, Lon R.
    Anderson, Carl A.
    Drummond, Hazel
    Nimmo, Elaine
    Ahmad, Tariq
    Prescott, Natalie J.
    Onnie, Clive M.
    Fisher, Sheila A.
    Marchini, Jonathan
    Ghori, Jilur
    [J]. NATURE GENETICS, 2008, 40 (08) : 955 - 962
  • [7] Haplotypic analysis of wellcome trust case control consortium data
    Browning, Brian L.
    Browning, Sharon R.
    [J]. HUMAN GENETICS, 2008, 123 (03) : 273 - 280
  • [8] Efficient multilocus association testing for whole genome association studies using localized haplotype clustering
    Browning, Brian L.
    Browning, Sharon R.
    [J]. GENETIC EPIDEMIOLOGY, 2007, 31 (05) : 365 - 375
  • [9] Estimation of pairwise identity by descent from dense genetic marker data in a population sample of haplotypes
    Browning, Sharon R.
    [J]. GENETICS, 2008, 178 (04) : 2123 - 2132
  • [10] Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering
    Browning, Sharon R.
    Browning, Brian L.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 81 (05) : 1084 - 1097