Genetic Analysis of Common Diseases: An Evaluation

常见疾病的基因分析：评估

基本信息

批准号：
9494763
负责人：
Laura A. Almasy
金额：
$ 45.64万
依托单位：
CHILDREN'S HOSP OF PHILADELPHIA
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-06-02 至 2020-05-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9494763
关键词：
Genetic Analysis Common Diseases Evaluation

项目摘要

ABSTRACT The goal of this project is to facilitate the development and evaluation of statistical methods for identifying and characterizing the genetic contribution to complex diseases and their precursors and risk factors. We propose to pursue this goal by continuing the organization of the Genetic Analysis Workshops (GAWs), which began in 1982. The Genetic Analysis Workshops are a collaborative effort among genetic epidemiologists and statistical geneticists to evaluate and compare genetic analysis methods. For each GAW, topics are chosen for their relevance to current analytical issues in genetic epidemiology, and sets of real and computer-simulated data are distributed to investigators worldwide. Participants submit the results of their analyses, which are discussed and compared at a 3 1/2 day meeting. Participation at GAWs has increased tremendously, from fewer than 30 at GAW1 in 1982 to 272 at GAW17. In the current grant period GAW16 (2008) and GAW17 (2010) were held. The GAW17 proceedings are currently in press with publication anticipated in December 2011 and planning for GAW18 has begun. During the proposed grant period, the GAW18 Proceedings will be published and two GAWs will be held: GAW19 (in 2014) and GAW20 (in 2017). Before the Workshops, participants devote months to data analysis, communicate with others who have done similar types of analyses, and plan integrated presentations. The GAW submissions invariably contain new ideas for methods to handle complex phenotypes and a number of widely used analytical techniques had their start at a GAW. Recent GAWs have included genome-wide association data and exome sequence data, giving participants an opportunity to try out new methods for localizing and characterizing variants influencing disease risk. Topics for future GAWs will be selected from among currently challenging analytical problems. Suggestions from GAW participants include methods for analyzing whole genome sequence; genome-wide methylation profiles; comparisons of study designs for next generation sequencing projects; analyzing sequence data in admixed populations; gene-environment and gene-gene interactions; and copy number variation. We also will continue to distribute real and simulated data from past GAWs with the permission of the data providers. Long after each GAW is over, investigators continue to use GAW data sets to evaluate new analytical methods and software, to estimate power and false positive rates, and to demonstrate the feasibility of statistical techniques for finding disease genes. GAW data are extensively used in grant proposals and in teaching and dissertation research.

抽象的该项目的目的是促进统计方法的开发和评估，以识别和表征对复杂疾病及其前体和风险因素的遗传贡献。我们建议通过继续组织遗传分析研讨会（GAWS）来实现这一目标，该研讨会始于 1982年。遗传分析研讨会是遗传流行病学家和统计学的一项合作努力遗传学家评估和比较遗传分析方法。对于每个GAW，选择主题与遗传流行病学的当前分析问题以及一组真实和计算机模拟的数据有关分发给全球调查人员。参与者提交了他们的分析结果，这些结果将进行讨论并在3 1/2天的会议上进行了比较。在GAWS的参与量大大增加了，从不到30 在1982年的GAW1至GAW17的272。在当前的赠款期GAW16（2008）和GAW17（2010）中。 GAW17程序目前在媒体上发表，预计将于2011年12月发布，并计划 GAW18已经开始。在拟议的赠款期间，将发布GAW18程序，并将 GAWS将举行：GAW19（2014年）和GAW20（2017年）。在研讨会之前，参与者将数月投入数据分析，与其他人进行交流类似类型的分析和计划综合演示文稿。 GAW提交总是包含新的处理复杂表型的方法和许多广泛使用的分析技术的想法使他们从GAW开始。最近的GAW包括全基因组关联数据和外显子组序列数据，给出了参与者有机会尝试新的方法来定位和表征影响疾病的变体风险。未来GAW的主题将从目前具有挑战性的分析问题中选择。 GAW参与者的建议包括分析整个基因组序列的方法；全基因组甲基化谱；下一代测序项目的研究设计的比较；分析混合种群中的序列数据；基因环境和基因 - 基因相互作用；和复制号变化。我们还将在数据许可下继续从过去的GAW中分发真实和模拟数据提供者。每个GAW结束后很长时间，调查人员继续使用GAW数据集评估新分析方法和软件，以估计功率和误报率，并证明可行性寻找疾病基因的统计技术。 GAW数据广泛用于赠款建议和教学和论文研究。