Literature DB >> 16938560

Whole-genome genotyping.

Kevin L Gunderson1, Frank J Steemers, Hongi Ren, Pauline Ng, Lixin Zhou, Chan Tsan, Weihua Chang, Dave Bullis, Joe Musmacker, Christine King, Lori L Lebruska, David Barker, Arnold Oliphant, Kenneth M Kuhn, Richard Shen.   

Abstract

We have developed an array-based whole-genome genotyping (WGG) assay (Infinium) using our BeadChip platform that effectively enables unlimited multiplexing and unconstrained single nucleotide polymorphism (SNP) selection. A single tube whole-genome amplification reaction is used to amplify the genome, and loci of interest are captured by specific hybridization of amplified gDNA to 50-mer probe arrays. After target capture, SNPs are genotyped on the array by a primer extension reaction in the presence of hapten-labeled nucleotides. The resultant signal is amplified during staining and the array is read out on a high-resolution confocal scanner. We have employed our high-density BeadChips supporting up to 288,000 bead types to create an array that can query over 100,000 SNPs using the Infinium assay. In addition, we have developed an automated BeadChip processing platform using Tecan's GenePaint slide processing system. Hybridization, washing, array-based primer extension, and staining are performed directly in Tecan's capillary gap Te-Flow chambers. This automation process increases assay robustness and throughput greatly while enabling laboratory information management system control of sample tracking.

Mesh:

Year:  2006        PMID: 16938560     DOI: 10.1016/S0076-6879(06)10017-8

Source DB:  PubMed          Journal:  Methods Enzymol        ISSN: 0076-6879            Impact factor:   1.600


  63 in total

Review 1.  Variation in the lysyl oxidase (LOX) gene is associated with keratoconus in family-based and case-control studies.

Authors:  Yelena Bykhovskaya; Xiaohui Li; Irina Epifantseva; Talin Haritunians; David Siscovick; Anthony Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Kent D Taylor; Jerome I Rotter; Yaron S Rabinowitz
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-06-28       Impact factor: 4.799

2.  A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

Authors:  Xiaohui Li; Yelena Bykhovskaya; Talin Haritunians; David Siscovick; Anthony Aldave; Loretta Szczotka-Flynn; Sudha K Iyengar; Jerome I Rotter; Kent D Taylor; Yaron S Rabinowitz
Journal:  Hum Mol Genet       Date:  2011-10-06       Impact factor: 6.150

3.  Quality control, imputation and analysis of genome-wide genotyping data from the Illumina HumanCoreExome microarray.

Authors:  Jonathan R I Coleman; Jack Euesden; Hamel Patel; Amos A Folarin; Stephen Newhouse; Gerome Breen
Journal:  Brief Funct Genomics       Date:  2015-10-05       Impact factor: 4.241

4.  Common genetic variations in the vitamin D pathway in relation to blood pressure.

Authors:  Lu Wang; Audrey Chu; Julie E Buring; Paul M Ridker; Daniel I Chasman; Howard D Sesso
Journal:  Am J Hypertens       Date:  2014-03-31       Impact factor: 2.689

5.  Genome-wide association study of theta band event-related oscillations identifies serotonin receptor gene HTR7 influencing risk of alcohol dependence.

Authors:  Mark Zlojutro; Niklas Manz; Madhavi Rangaswamy; Xiaoling Xuei; Leah Flury-Wetherill; Daniel Koller; Laura J Bierut; Alison Goate; Victor Hesselbrock; Samuel Kuperman; John Nurnberger; John P Rice; Marc A Schuckit; Tatiana Foroud; Howard J Edenberg; Bernice Porjesz; Laura Almasy
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2010-11-02       Impact factor: 3.568

6.  Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.

Authors:  Kathryn P Burdon; Stuart Macgregor; Yelena Bykhovskaya; Sharhbanou Javadiyan; Xiaohui Li; Kate J Laurie; Dorota Muszynska; Richard Lindsay; Judith Lechner; Talin Haritunians; Anjali K Henders; Durga Dash; David Siscovick; Seema Anand; Anthony Aldave; Douglas J Coster; Loretta Szczotka-Flynn; Richard A Mills; Sudha K Iyengar; Kent D Taylor; Tony Phillips; Grant W Montgomery; Jerome I Rotter; Alex W Hewitt; Shiwani Sharma; Yaron S Rabinowitz; Colin Willoughby; Jamie E Craig
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-10-31       Impact factor: 4.799

7.  Application of machine learning algorithms to predict coronary artery calcification with a sibship-based design.

Authors:  Yan V Sun; Lawrence F Bielak; Patricia A Peyser; Stephen T Turner; Patrick F Sheedy; Eric Boerwinkle; Sharon L R Kardia
Journal:  Genet Epidemiol       Date:  2008-05       Impact factor: 2.135

8.  Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function.

Authors:  Nathaniel D Miller; Melonie A Nance; Elizabeth S Wohler; Julie E Hoover-Fong; Emily Lisi; George H Thomas; Jonathan Pevsner
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802

9.  Systematic evaluation of validated type 2 diabetes and glycaemic trait loci for association with insulin clearance.

Authors:  M O Goodarzi; X Guo; J Cui; M R Jones; T Haritunians; A H Xiang; Y-D I Chen; K D Taylor; T A Buchanan; W A Hsueh; L J Raffel; J I Rotter
Journal:  Diabetologia       Date:  2013-03-14       Impact factor: 10.122

10.  Candidate loci for insulin sensitivity and disposition index from a genome-wide association analysis of Hispanic participants in the Insulin Resistance Atherosclerosis (IRAS) Family Study.

Authors:  N D Palmer; C D Langefeld; J T Ziegler; F Hsu; S M Haffner; T Fingerlin; J M Norris; Y I Chen; S S Rich; T Haritunians; K D Taylor; R N Bergman; J I Rotter; D W Bowden
Journal:  Diabetologia       Date:  2009-11-10       Impact factor: 10.122

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