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
[1]  
[Anonymous], R Project for Statistical Computing (Version 3.0.2)
[2]   A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization [J].
Arking, Dan E. ;
Pfeufer, Arne ;
Post, Wendy ;
Kao, W. H. Linda ;
Newton-Cheh, Christopher ;
Ikeda, Morna ;
West, Kristen ;
Kashuk, Carl ;
Akyol, Mahmut ;
Perz, Siegfried ;
Jalilzadeh, Shapour ;
Illig, Thomas ;
Gieger, Christian ;
Guo, Chao-Yu ;
Larson, Martin G. ;
Wichmann, H. Erich ;
Marban, Eduardo ;
O'Donnell, Christopher J. ;
Hirschhorn, Joel N. ;
Kaeaeb, Stefan ;
Spooner, Peter M. ;
Meitinger, Thomas ;
Chakravarti, Aravinda .
NATURE GENETICS, 2006, 38 (06) :644-651
[3]   Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].
Burton, Paul R. ;
Clayton, David G. ;
Cardon, Lon R. ;
Craddock, Nick ;
Deloukas, Panos ;
Duncanson, Audrey ;
Kwiatkowski, Dominic P. ;
McCarthy, Mark I. ;
Ouwehand, Willem H. ;
Samani, Nilesh J. ;
Todd, John A. ;
Donnelly, Peter ;
Barrett, Jeffrey C. ;
Davison, Dan ;
Easton, Doug ;
Evans, David ;
Leung, Hin-Tak ;
Marchini, Jonathan L. ;
Morris, Andrew P. ;
Spencer, Chris C. A. ;
Tobin, Martin D. ;
Attwood, Antony P. ;
Boorman, James P. ;
Cant, Barbara ;
Everson, Ursula ;
Hussey, Judith M. ;
Jolley, Jennifer D. ;
Knight, Alexandra S. ;
Koch, Kerstin ;
Meech, Elizabeth ;
Nutland, Sarah ;
Prowse, Christopher V. ;
Stevens, Helen E. ;
Taylor, Niall C. ;
Walters, Graham R. ;
Walker, Neil M. ;
Watkins, Nicholas A. ;
Winzer, Thilo ;
Jones, Richard W. ;
McArdle, Wendy L. ;
Ring, Susan M. ;
Strachan, David P. ;
Pembrey, Marcus ;
Breen, Gerome ;
St Clair, David ;
Caesar, Sian ;
Gordon-Smith, Katherine ;
Jones, Lisa ;
Fraser, Christine ;
Green, Elain K. .
NATURE, 2007, 447 (7145) :661-678
[4]   Exploration, normalization, and genotype calls of high-density oligonucleotide SNP array data [J].
Carvalho, Benilton ;
Bengtsson, Henrik ;
Speed, Terence P. ;
Irizarry, Rafael A. .
BIOSTATISTICS, 2007, 8 (02) :485-499
[5]   Variations on a theme: Cataloging human DNA sequence variation [J].
Collins, FS ;
Guyer, MS ;
Chakravarti, A .
SCIENCE, 1997, 278 (5343) :1580-1581
[6]   High-throughput variation detection and genotyping using microarrays [J].
Cutler, DJ ;
Zwick, ME ;
Carrasquillo, MM ;
Yohn, CT ;
Tobin, KP ;
Kashuk, C ;
Mathews, DJ ;
Shah, NA ;
Eichler, EE ;
Warrington, JA ;
Chakravarti, A .
GENOME RESEARCH, 2001, 11 (11) :1913-1925
[7]   Dynamic model based algorithms for screening and genotyping over 100K SNPs on oligonucleotide microarrays [J].
Di, XJ ;
Matsuzaki, H ;
Webster, TA ;
Hubbell, E ;
Liu, GY ;
Dong, SL ;
Bartell, D ;
Huang, J ;
Chiles, R ;
Yang, G ;
Shen, MM ;
Kulp, D ;
Kennedy, GC ;
Mei, R ;
Jones, KW ;
Cawley, S .
BIOINFORMATICS, 2005, 21 (09) :1958-1963
[8]   Flexible use of high-density oligonucleotide arrays for single-nucleotide polymorphism discovery and validation [J].
Dong, SL ;
Wang, E ;
Hsie, L ;
Cao, YX ;
Chen, XG ;
Gingeras, TR .
GENOME RESEARCH, 2001, 11 (08) :1418-1424
[9]   Parallel genotyping of human SNPs using generic high-density oligonucleotide tag arrays [J].
Fan, JB ;
Chen, XQ ;
Halushka, MK ;
Berno, A ;
Huang, XH ;
Ryder, T ;
Lipshutz, RJ ;
Lockhart, DJ ;
Chakravarti, A .
GENOME RESEARCH, 2000, 10 (06) :853-860
[10]   LIGHT-DIRECTED, SPATIALLY ADDRESSABLE PARALLEL CHEMICAL SYNTHESIS [J].
FODOR, SPA ;
READ, JL ;
PIRRUNG, MC ;
STRYER, L ;
LU, AT ;
SOLAS, D .
SCIENCE, 1991, 251 (4995) :767-773