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快速反应数据概述。

Overview of the Rapid Response data.

机构信息

Division of Public Health Sciences, Department of Biostatistics, Wake Forest University Health Sciences, Winston-Salem, NC 27157, USA.

出版信息

Genes Immun. 2009 Dec;10 Suppl 1(Suppl 1):S5-S15. doi: 10.1038/gene.2009.85.

Abstract

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.

摘要

I 型糖尿病遗传学联合会(T1DGC)快速反应研讨会的成立是为了评估已发表的候选基因关联,在一个大型受影响的同胞对(ASP)家庭的集合。我们报告我们的质量控制(QC)和初步基于家庭的关联分析。随机抽取盲重复样本进行 QC 分析。进行了质量检查,包括检查板-面板产量、标记产量、哈迪-温伯格平衡、错配错误率、孟德尔错误率以及板之间的等位基因分布。来自 9 个队列的 2324 个家庭的基因型是从包括在 Broad Institute Center for Genotyping and Analysis(马萨诸塞州剑桥,美国)的两个基因分型平台上进行的 384 个单核苷酸多态性的 21 个候选基因的面板中获得的。T1DGC 快速反应项目,经过严格的 QC 程序,产生了一个 2297 个家庭、9688 个个体的单候选基因面板的基因分型数据库。可用的数据包括来自两个平台的基因型数据的 9005 个人和仅在一个平台上基因分型(Illumina 上 276 个;Sequenom 上 407 个)的 683 个人。

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