SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

被引:1090
作者
Johnson, Andrew D. [3 ,4 ]
Handsaker, Robert E. [1 ,2 ]
Pulit, Sara L. [5 ,6 ]
Nizzari, Marcia M. [1 ,2 ]
O'Donnell, Christopher J. [3 ,4 ,7 ]
de Bakker, Paul I. W. [1 ,2 ,5 ,6 ]
机构
[1] MIT, Broad Inst, Cambridge, MA 02142 USA
[2] Harvard Univ, Cambridge, MA 02142 USA
[3] NHLBI, Framingham Heart Study, NIH, Framingham, MA 01702 USA
[4] Boston Univ, Sch Med, Framingham, MA 01702 USA
[5] Brigham & Womens Hosp, Dept Med, Div Genet, Boston, MA 02215 USA
[6] Harvard Univ, Sch Med, Partners HealthCare Ctr Genet & Genom, Boston, MA 02215 USA
[7] Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA
关键词
D O I
10.1093/bioinformatics/btn564
中图分类号
Q5 [生物化学];
学科分类号
071010 ; 081704 ;
摘要
The interpretation of genome-wide association results is confounded by linkage disequilibrium between nearby alleles. We have developed a flexible bioinformatics query tool for single-nucleotide polymorphisms (SNPs) to identify and to annotate nearby SNPs in linkage disequilibrium (proxies) based on HapMap. By offering functionality to generate graphical plots for these data, the SNAP server will facilitate interpretation and comparison of genome-wide association study results, and the design of fine-mapping experiments (by delineating genomic regions harboring associated variants and their proxies).
引用
收藏
页码:2938 / 2939
页数:2
相关论文
共 9 条
[1]   Haploview: analysis and visualization of LD and haplotype maps [J].
Barrett, JC ;
Fry, B ;
Maller, J ;
Daly, MJ .
BIOINFORMATICS, 2005, 21 (02) :263-265
[2]   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
[3]   A common variant on chromosome 9p21 affects the risk of myocardial infarction [J].
Helgadottir, Anna ;
Thorleifsson, Gudmar ;
Manolescu, Andrei ;
Gretarsdottir, Solveig ;
Blondal, Thorarinn ;
Jonasdottir, Aslaug ;
Jonasdottir, Adalbjorg ;
Sigurdsson, Asgeir ;
Baker, Adam ;
Palsson, Arnar ;
Masson, Gisli ;
Gudbjartsson, Daniel F. ;
Magnusson, Kristinn P. ;
Andersen, Karl ;
Levey, Allan I. ;
Backman, Valgerdur M. ;
Matthiasdottir, Sigurborg ;
Jonsdottir, Thorbjorg ;
Palsson, Stefan ;
Einarsdottir, Helga ;
Gunnarsdottir, Steinunn ;
Gylfason, Arnaldur ;
Vaccarino, Viola ;
Hooper, W. Craig ;
Reilly, Muredach P. ;
Granger, Christopher B. ;
Austin, Harland ;
Rader, Daniel J. ;
Shah, Svati H. ;
Quyyumi, Arshed A. ;
Gulcher, Jeffrey R. ;
Thorgeirsson, Gudmundur ;
Thorsteinsdottir, Unnur ;
Kong, Augustine ;
Stefansson, Kari .
SCIENCE, 2007, 316 (5830) :1491-1493
[4]   GeneCruiser: a web service for the annotation of microarray data [J].
Liefeld, T ;
Reich, M ;
Gould, J ;
Zhang, PL ;
Tamayo, P ;
Mesirov, JP .
BIOINFORMATICS, 2005, 21 (18) :3681-3682
[5]   A new multipoint method for genome-wide association studies by imputation of genotypes [J].
Marchini, Jonathan ;
Howie, Bryan ;
Myers, Simon ;
McVean, Gil ;
Donnelly, Peter .
NATURE GENETICS, 2007, 39 (07) :906-913
[6]   Genome-wide association studies for complex traits: consensus, uncertainty and challenges [J].
McCarthy, Mark I. ;
Abecasis, Goncalo R. ;
Cardon, Lon R. ;
Goldstein, David B. ;
Little, Julian ;
Ioannidis, John P. A. ;
Hirschhorn, Joel N. .
NATURE REVIEWS GENETICS, 2008, 9 (05) :356-369
[7]   A common allele on chromosome 9 associated with coronary heart disease [J].
McPherson, Ruth ;
Pertsemlidis, Alexander ;
Kavaslar, Nihan ;
Stewart, Alexandre F. R. ;
Roberts, Robert ;
Cox, David R. ;
Hinds, David A. ;
Pennacchio, Len A. ;
Tybjaerg-Hansen, Anne ;
Folsom, Aaron R. ;
Boerwinkle, Eric ;
Hobbs, Helen H. ;
Cohen, Jonathan C. .
SCIENCE, 2007, 316 (5830) :1488-1491
[8]   Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels [J].
Saxena, Richa ;
Voight, Benjamin F. ;
Lyssenko, Valeriya ;
Burtt, Noel P. ;
de Bakker, Paul I. W. ;
Chen, Hong ;
Roix, Jeffrey J. ;
Kathiresan, Sekar ;
Hirschhorn, Joel N. ;
Daly, Mark J. ;
Hughes, Thomas E. ;
Groop, Leif ;
Altshuler, David ;
Almgren, Peter ;
Florez, Jose C. ;
Meyer, Joanne ;
Ardlie, Kristin ;
Bostroem, Kristina Bengtsson ;
Isomaa, Bo ;
Lettre, Guillaume ;
Lindblad, Ulf ;
Lyon, Helen N. ;
Melander, Olle ;
Newton-Cheh, Christopher ;
Nilsson, Peter ;
Orho-Melander, Marju ;
Rastam, Lennart ;
Speliotes, Elizabeth K. ;
Taskinen, Marja-Riitta ;
Tuomi, Tiinamaija ;
Guiducci, Candace ;
Berglund, Anna ;
Carlson, Joyce ;
Gianniny, Lauren ;
Hackett, Rachel ;
Hall, Liselotte ;
Holmkvist, Johan ;
Laurila, Esa ;
Sjoegren, Marketa ;
Sterner, Maria ;
Surti, Aarti ;
Svensson, Margareta ;
Svensson, Malin ;
Tewhey, Ryan ;
Blumenstiel, Brendan ;
Parkin, Melissa ;
DeFelice, Matthew ;
Barry, Rachel ;
Brodeur, Wendy ;
Camarata, Jody .
SCIENCE, 2007, 316 (5829) :1331-1336
[9]   Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes [J].
Zeggini, Eleftheria ;
Scott, Laura J. ;
Saxena, Richa ;
Voight, Benjamin F. ;
Marchini, Jonathan L. ;
Hu, Tianle ;
de Bakker, Paul I. W. ;
Abecasis, Goncalo R. ;
Almgren, Peter ;
Andersen, Gitte ;
Ardlie, Kristin ;
Bostroem, Kristina Bengtsson ;
Bergman, Richard N. ;
Bonnycastle, Lori L. ;
Borch-Johnsen, Knut ;
Burtt, Noel P. ;
Chen, Hong ;
Chines, Peter S. ;
Daly, Mark J. ;
Deodhar, Parimal ;
Ding, Chia-Jen ;
Doney, Alex S. F. ;
Duren, William L. ;
Elliott, Katherine S. ;
Erdos, Michael R. ;
Frayling, Timothy M. ;
Freathy, Rachel M. ;
Gianniny, Lauren ;
Grallert, Harald ;
Grarup, Niels ;
Groves, Christopher J. ;
Guiducci, Candace ;
Hansen, Torben ;
Herder, Christian ;
Hitman, Graham A. ;
Hughes, Thomas E. ;
Isomaa, Bo ;
Jackson, Anne U. ;
Jorgensen, Torben ;
Kong, Augustine ;
Kubalanza, Kari ;
Kuruvilla, Finny G. ;
Kuusisto, Johanna ;
Langenberg, Claudia ;
Lango, Hana ;
Lauritzen, Torsten ;
Li, Yun ;
Lindgren, Cecilia M. ;
Lyssenko, Valeriya ;
Marvelle, Amanda F. .
NATURE GENETICS, 2008, 40 (05) :638-645