遗传分析研讨会18：分析扩展家系成员人类序列和表型数据的方法与策略。
Genetic Analysis Workshop 18: Methods and strategies for analyzing human sequence and phenotype data in members of extended pedigrees.
作者信息
Bickeböller Heike, Bailey Julia N, Beyene Joseph, Cantor Rita M, Cordell Heather J, Culverhouse Robert C, Engelman Corinne D, Fardo David W, Ghosh Saurabh, König Inke R, Lorenzo Bermejo Justo, Melton Phillip E, Santorico Stephanie A, Satten Glen A, Sun Lei, Tintle Nathan L, Ziegler Andreas, MacCluer Jean W, Almasy Laura
机构信息
Department of Genetic Epidemiology, University Medicine Göttingen, University of Göttingen, Humboldtallee 32, 37073 Göttingen, Germany.
Department of Epidemiology, Fielding School of Public Health, University of California, Los Angeles, CA 90095, USA.
出版信息
BMC Proc. 2014 Jun 17;8(Suppl 1):S1. doi: 10.1186/1753-6561-8-S1-S1. eCollection 2014.
Genetic Analysis Workshop 18 provided a platform for developing and evaluating statistical methods to analyze whole-genome sequence data from a pedigree-based sample. In this article we present an overview of the data sets and the contributions that analyzed these data. The family data, donated by the Type 2 Diabetes Genetic Exploration by Next-Generation Sequencing in Ethnic Samples Consortium, included sequence-level genotypes based on sequencing and imputation, genome-wide association genotypes from prior genotyping arrays, and phenotypes from longitudinal assessments. The contributions from individual research groups were extensively discussed before, during, and after the workshop in theme-based discussion groups before being submitted for publication.
遗传分析研讨会18提供了一个平台，用于开发和评估统计方法，以分析来自基于家系样本的全基因组序列数据。在本文中，我们概述了数据集以及分析这些数据的研究成果。由族群样本中2型糖尿病下一代测序基因探索联盟捐赠的家族数据，包括基于测序和插补的序列水平基因型、先前基因分型阵列的全基因组关联基因型，以及纵向评估的表型。在研讨会之前、期间和之后，各研究小组的成果在主题讨论组中进行了广泛讨论，然后才提交发表。
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