Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays

被引:26
作者
Lin, Shin [2 ]
Carvalho, Benilton [1 ]
Cutler, David J. [2 ]
Arking, Dan E. [2 ]
Chakravarti, Aravinda [1 ,2 ]
Irizarry, Rafael A. [1 ]
机构
[1] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Biostat, Baltimore, MD 21205 USA
[2] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA
关键词
D O I
10.1186/gb-2008-9-4-r63
中图分类号
Q81 [生物工程学(生物技术)]; Q93 [微生物学];
学科分类号
071005 ; 0836 ; 090102 ; 100705 ;
摘要
Multiple algorithms have been developed for the purpose of calling single nucleotide polymorphisms (SNPs) from Affymetrix microarrays. We extend and validate the algorithm CRLMM, which incorporates HapMap information within an empirical Bayes framework. We find CRLMM to be more accurate than the Affymetrix default programs (BRLMM and Birdseed). Also, we tie our call confidence metric to percent accuracy. We intend that our validation datasets and methods, refered to as SNPaffycomp, serve as standard benchmarks for future SNP calling algorithms.
引用
收藏
页数:12
相关论文
共 31 条
[11]   A second generation human haplotype map of over 3.1 million SNPs [J].
Frazer, Kelly A. ;
Ballinger, Dennis G. ;
Cox, David R. ;
Hinds, David A. ;
Stuve, Laura L. ;
Gibbs, Richard A. ;
Belmont, John W. ;
Boudreau, Andrew ;
Hardenbol, Paul ;
Leal, Suzanne M. ;
Pasternak, Shiran ;
Wheeler, David A. ;
Willis, Thomas D. ;
Yu, Fuli ;
Yang, Huanming ;
Zeng, Changqing ;
Gao, Yang ;
Hu, Haoran ;
Hu, Weitao ;
Li, Chaohua ;
Lin, Wei ;
Liu, Siqi ;
Pan, Hao ;
Tang, Xiaoli ;
Wang, Jian ;
Wang, Wei ;
Yu, Jun ;
Zhang, Bo ;
Zhang, Qingrun ;
Zhao, Hongbin ;
Zhao, Hui ;
Zhou, Jun ;
Gabriel, Stacey B. ;
Barry, Rachel ;
Blumenstiel, Brendan ;
Camargo, Amy ;
Defelice, Matthew ;
Faggart, Maura ;
Goyette, Mary ;
Gupta, Supriya ;
Moore, Jamie ;
Nguyen, Huy ;
Onofrio, Robert C. ;
Parkin, Melissa ;
Roy, Jessica ;
Stahl, Erich ;
Winchester, Ellen ;
Ziaugra, Liuda ;
Altshuler, David ;
Shen, Yan .
NATURE, 2007, 449 (7164) :851-U3
[12]   Bioconductor: open software development for computational biology and bioinformatics [J].
Gentleman, RC ;
Carey, VJ ;
Bates, DM ;
Bolstad, B ;
Dettling, M ;
Dudoit, S ;
Ellis, B ;
Gautier, L ;
Ge, YC ;
Gentry, J ;
Hornik, K ;
Hothorn, T ;
Huber, W ;
Iacus, S ;
Irizarry, R ;
Leisch, F ;
Li, C ;
Maechler, M ;
Rossini, AJ ;
Sawitzki, G ;
Smith, C ;
Smyth, G ;
Tierney, L ;
Yang, JYH ;
Zhang, JH .
GENOME BIOLOGY, 2004, 5 (10)
[13]   Comparison of Affymetrix GeneChip expression measures [J].
Irizarry, RA ;
Wu, ZJ ;
Jaffee, HA .
BIOINFORMATICS, 2006, 22 (07) :789-794
[14]   Exploration, normalization, and summaries of high density oligonucleotide array probe level data [J].
Irizarry, RA ;
Hobbs, B ;
Collin, F ;
Beazer-Barclay, YD ;
Antonellis, KJ ;
Scherf, U ;
Speed, TP .
BIOSTATISTICS, 2003, 4 (02) :249-264
[15]   Large-scale genotyping of complex DNA [J].
Kennedy, GC ;
Matsuzaki, H ;
Dong, SL ;
Liu, WM ;
Huang, J ;
Liu, GY ;
Xu, X ;
Cao, MQ ;
Chen, WW ;
Zhang, J ;
Liu, WW ;
Yang, G ;
Di, XJ ;
Ryder, T ;
He, ZJ ;
Surti, U ;
Phillips, MS ;
Boyce-Jacino, MT ;
Fodor, SPA ;
Jones, KW .
NATURE BIOTECHNOLOGY, 2003, 21 (10) :1233-1237
[16]   Complement factor H polymorphism in age-related macular degeneration [J].
Klein, RJ ;
Zeiss, C ;
Chew, EY ;
Tsai, JY ;
Sackler, RS ;
Haynes, C ;
Henning, AK ;
SanGiovanni, JP ;
Mane, SM ;
Mayne, ST ;
Bracken, MB ;
Ferris, FL ;
Ott, J ;
Barnstable, C ;
Hoh, J .
SCIENCE, 2005, 308 (5720) :385-389
[17]   GENETIC DISSECTION OF COMPLEX TRAITS [J].
LANDER, ES ;
SCHORK, NJ .
SCIENCE, 1994, 265 (5181) :2037-2048
[18]   Exhaustive allelic transmission disequilibrium tests as a new approach to genome-wide association studies [J].
Lin, S ;
Chakravarti, A ;
Cutler, DJ .
NATURE GENETICS, 2004, 36 (11) :1181-1188
[19]   Algorithms for large-scale genotyping microarrays [J].
Liu, WM ;
Di, XJ ;
Yang, G ;
Matsuzaki, H ;
Huang, J ;
Mei, R ;
Ryder, TB ;
Webster, TA ;
Dong, SL ;
Liu, GY ;
Jones, KW ;
Kennedy, GC ;
Kulp, D .
BIOINFORMATICS, 2003, 19 (18) :2397-2403
[20]   Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test [J].
Mitchell, AA ;
Cutler, DJ ;
Chakravarti, A .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (03) :598-610