4.5 Article

Overview of the Rapid Response data

Journal

GENES AND IMMUNITY
Volume 10, Issue -, Pages S5-S15

Publisher

NATURE PUBLISHING GROUP
DOI: 10.1038/gene.2009.85

Keywords

type I diabetes; candidate gene; SNP; quality control; association

Funding

  1. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
  2. National Institute of Allergy and Infectious Diseases (NIAID)
  3. National Human Genome Research Institute (NHGRI)
  4. National Institute of Child Health and Human Development (NICHD)
  5. Juvenile Diabetes Research Foundation International (JDRF)
  6. National Center for Research Resources [U54 RR020278]
  7. [U01 DK062418]

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The Type I Diabetes Genetics Consortium (T1DGC) Rapid Response Workshop was established to evaluate published candidate gene associations in a large collection of affected sib-pair (ASP) families. We report on our quality control (QC) and preliminary family-based association analyses. A random sample of blind duplicates was analyzed for QC. Quality checks, including examination of plate-panel yield, marker yield, Hardy-Weinberg equilibrium, mismatch error rate, Mendelian error rate, and allele distribution across plates, were performed. Genotypes from 2324 families within nine cohorts were obtained from a panel of 21 candidate genes, including 384 single-nucleotide polymorphisms on two genotyping platforms performed at the Broad Institute Center for Genotyping and Analysis (Cambridge, MA, USA). The T1DGC Rapid Response project, following rigorous QC procedures, resulted in a 2297 family, 9688 genotyped individual database on a single-candidate gene panel. The available data include 9005 individuals with genotype data from both platforms and 683 individuals genotyped (276 in Illumina; 407 in Sequenom) on only one platform. Genes and Immunity (2009) 10, S5-S15; doi: 10.1038/gene.2009.85

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