Literature DB >> 21565264

Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.

Thomas J Hoffmann1, Mark N Kvale, Stephanie E Hesselson, Yiping Zhan, Christine Aquino, Yang Cao, Simon Cawley, Elaine Chung, Sheryl Connell, Jasmin Eshragh, Marcia Ewing, Jeremy Gollub, Mary Henderson, Earl Hubbell, Carlos Iribarren, Jay Kaufman, Richard Z Lao, Yontao Lu, Dana Ludwig, Gurpreet K Mathauda, William McGuire, Gangwu Mei, Sunita Miles, Matthew M Purdy, Charles Quesenberry, Dilrini Ranatunga, Sarah Rowell, Marianne Sadler, Michael H Shapero, Ling Shen, Tanushree R Shenoy, David Smethurst, Stephen K Van den Eeden, Larry Walter, Eunice Wan, Reid Wearley, Teresa Webster, Christopher C Wen, Li Weng, Rachel A Whitmer, Alan Williams, Simon C Wong, Chia Zau, Andrea Finn, Catherine Schaefer, Pui-Yan Kwok, Neil Risch.   

Abstract

The success of genome-wide association studies has paralleled the development of efficient genotyping technologies. We describe the development of a next-generation microarray based on the new highly-efficient Affymetrix Axiom genotyping technology that we are using to genotype individuals of European ancestry from the Kaiser Permanente Research Program on Genes, Environment and Health (RPGEH). The array contains 674,517 SNPs, and provides excellent genome-wide as well as gene-based and candidate-SNP coverage. Coverage was calculated using an approach based on imputation and cross validation. Preliminary results for the first 80,301 saliva-derived DNA samples from the RPGEH demonstrate very high quality genotypes, with sample success rates above 94% and over 98% of successful samples having SNP call rates exceeding 98%. At steady state, we have produced 462 million genotypes per week for each Axiom system. The new array provides a valuable addition to the repertoire of tools for large scale genome-wide association studies.
Copyright © 2011 Elsevier Inc. All rights reserved.

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Year:  2011        PMID: 21565264      PMCID: PMC3146553          DOI: 10.1016/j.ygeno.2011.04.005

Source DB:  PubMed          Journal:  Genomics        ISSN: 0888-7543            Impact factor:   5.736


  27 in total

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2.  Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium.

Authors:  Christopher S Carlson; Michael A Eberle; Mark J Rieder; Qian Yi; Leonid Kruglyak; Deborah A Nickerson
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3.  Large-scale genotyping of complex DNA.

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Journal:  Nat Biotechnol       Date:  2003-09-07       Impact factor: 54.908

4.  Complement factor H polymorphism in age-related macular degeneration.

Authors:  Robert J Klein; Caroline Zeiss; Emily Y Chew; Jen-Yue Tsai; Richard S Sackler; Chad Haynes; Alice K Henning; John Paul SanGiovanni; Shrikant M Mane; Susan T Mayne; Michael B Bracken; Frederick L Ferris; Jurg Ott; Colin Barnstable; Josephine Hoh
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

5.  Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays.

Authors:  Hajime Matsuzaki; Shoulian Dong; Halina Loi; Xiaojun Di; Guoying Liu; Earl Hubbell; Jane Law; Tam Berntsen; Monica Chadha; Henry Hui; Geoffrey Yang; Giulia C Kennedy; Teresa A Webster; Simon Cawley; P Sean Walsh; Keith W Jones; Stephen P A Fodor; Rui Mei
Journal:  Nat Methods       Date:  2004-11       Impact factor: 28.547

6.  The future of genetic studies of complex human diseases.

Authors:  N Risch; K Merikangas
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7.  Genetic analysis of complex diseases.

Authors:  B Müller-Myhsok; L Abel
Journal:  Science       Date:  1997-02-28       Impact factor: 47.728

8.  Integrating common and rare genetic variation in diverse human populations.

Authors:  David M Altshuler; Richard A Gibbs; Leena Peltonen; David M Altshuler; Richard A Gibbs; Leena Peltonen; Emmanouil Dermitzakis; Stephen F Schaffner; Fuli Yu; Leena Peltonen; Emmanouil Dermitzakis; Penelope E Bonnen; David M Altshuler; Richard A Gibbs; Paul I W de Bakker; Panos Deloukas; Stacey B Gabriel; Rhian Gwilliam; Sarah Hunt; Michael Inouye; Xiaoming Jia; Aarno Palotie; Melissa Parkin; Pamela Whittaker; Fuli Yu; Kyle Chang; Alicia Hawes; Lora R Lewis; Yanru Ren; David Wheeler; Richard A Gibbs; Donna Marie Muzny; Chris Barnes; Katayoon Darvishi; Matthew Hurles; Joshua M Korn; Kati Kristiansson; Charles Lee; Steven A McCarrol; James Nemesh; Emmanouil Dermitzakis; Alon Keinan; Stephen B Montgomery; Samuela Pollack; Alkes L Price; Nicole Soranzo; Penelope E Bonnen; Richard A Gibbs; Claudia Gonzaga-Jauregui; Alon Keinan; Alkes L Price; Fuli Yu; Verneri Anttila; Wendy Brodeur; Mark J Daly; Stephen Leslie; Gil McVean; Loukas Moutsianas; Huy Nguyen; Stephen F Schaffner; Qingrun Zhang; Mohammed J R Ghori; Ralph McGinnis; William McLaren; Samuela Pollack; Alkes L Price; Stephen F Schaffner; Fumihiko Takeuchi; Sharon R Grossman; Ilya Shlyakhter; Elizabeth B Hostetter; Pardis C Sabeti; Clement A Adebamowo; Morris W Foster; Deborah R Gordon; Julio Licinio; Maria Cristina Manca; Patricia A Marshall; Ichiro Matsuda; Duncan Ngare; Vivian Ota Wang; Deepa Reddy; Charles N Rotimi; Charmaine D Royal; Richard R Sharp; Changqing Zeng; Lisa D Brooks; Jean E McEwen
Journal:  Nature       Date:  2010-09-02       Impact factor: 49.962

Review 9.  A census of human cancer genes.

Authors:  P Andrew Futreal; Lachlan Coin; Mhairi Marshall; Thomas Down; Timothy Hubbard; Richard Wooster; Nazneen Rahman; Michael R Stratton
Journal:  Nat Rev Cancer       Date:  2004-03       Impact factor: 60.716

10.  Hundreds of variants clustered in genomic loci and biological pathways affect human height.

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Journal:  Nature       Date:  2010-09-29       Impact factor: 49.962

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  108 in total

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8.  Nocturnal asthma and the importance of race/ethnicity and genetic ancestry.

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9.  IRF4 Polymorphism Is Associated with Cutaneous Squamous Cell Carcinoma in Organ Transplant Recipients: A Pigment-Independent Phenomenon.

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10.  The impact of improved microarray coverage and larger sample sizes on future genome-wide association studies.

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Journal:  Genet Epidemiol       Date:  2013-03-25       Impact factor: 2.135

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