Literature DB >> 16369550

Whole-genome genotyping with the single-base extension assay.

Frank J Steemers1, Weihua Chang, Grace Lee, David L Barker, Richard Shen, Kevin L Gunderson.   

Abstract

We describe an efficient, accurate and robust whole-genome genotyping (WGG) assay based on a two-color, single-base extension (SBE), single-nucleotide polymorphism (SNP)-scoring step. We report genotyping results for biallelic International HapMap quality control (QC) SNPs using a single probe per locus. We show scalability, throughput and accuracy of the system by resequencing homozygous loci from our 100k Human-1 Genotyping BeadChip.

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Year:  2006        PMID： 16369550     DOI： 10.1038/nmeth842

Source DB:  PubMed          Journal:  Nat Methods        ISSN： 1548-7091            Impact factor:   28.547


  134 in total

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4.  Age-related somatic structural changes in the nuclear genome of human blood cells.

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Journal:  Am J Hum Genet       Date:  2012-02-02       Impact factor: 11.025

5.  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

6.  The Mouse Universal Genotyping Array: From Substrains to Subspecies.

Authors:  Andrew P Morgan; Chen-Ping Fu; Chia-Yu Kao; Catherine E Welsh; John P Didion; Liran Yadgary; Leeanna Hyacinth; Martin T Ferris; Timothy A Bell; Darla R Miller; Paola Giusti-Rodriguez; Randal J Nonneman; Kevin D Cook; Jason K Whitmire; Lisa E Gralinski; Mark Keller; Alan D Attie; Gary A Churchill; Petko Petkov; Patrick F Sullivan; Jennifer R Brennan; Leonard McMillan; Fernando Pardo-Manuel de Villena
Journal:  G3 (Bethesda)       Date:  2015-12-18       Impact factor: 3.154

7.  A genome-wide association study of monozygotic twin-pairs suggests a locus related to variability of serum high-density lipoprotein cholesterol.

Authors:  Ida Surakka; John B Whitfield; Markus Perola; Peter M Visscher; Grant W Montgomery; Mario Falchi; Gonneke Willemsen; Eco J C de Geus; Patrik K E Magnusson; Kaare Christensen; Thorkild I A Sørensen; Kirsi H Pietiläinen; Taina Rantanen; Kaisa Silander; Elisabeth Widén; Juha Muilu; Iffat Rahman; Ulrika Liljedahl; Ann-Christine Syvänen; Aarno Palotie; Jaakko Kaprio; Kirsten O Kyvik; Nancy L Pedersen; Dorret I Boomsma; Tim Spector; Nicholas G Martin; Samuli Ripatti; Leena Peltonen
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8.  Genetic variations in micro-RNA biogenesis genes and clinical outcomes in non-muscle-invasive bladder cancer.

Authors:  Hung-Lung Ke; Meng Chen; Yuanqing Ye; Michelle A T Hildebrandt; Wen-Jeng Wu; Hua Wei; Maosheng Huang; David W Chang; Colin P Dinney; Xifeng Wu
Journal:  Carcinogenesis       Date:  2013-01-14       Impact factor: 4.944

9.  Variation in inflammation-related genes and risk of incident nonfatal myocardial infarction or ischemic stroke.

Authors:  Joshua C Bis; Susan R Heckbert; Nicholas L Smith; Alexander P Reiner; Kenneth Rice; Thomas Lumley; Lucia A Hindorff; Kristin D Marciante; Daniel A Enquobahrie; Stephanie A Monks; Bruce M Psaty
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10.  Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

Authors:  Edward F Attiyeh; Sharon J Diskin; Marc A Attiyeh; Yaël P Mossé; Cuiping Hou; Eric M Jackson; Cecilia Kim; Joseph Glessner; Hakon Hakonarson; Jaclyn A Biegel; John M Maris
Journal:  Genome Res       Date:  2009-01-13       Impact factor: 9.043
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