CORE--GENOMICS /BIOINFORMATICS--ALZHEIMER'S AND AUTISM

核心--基因组学/生物信息学--阿尔茨海默病和自闭症

• 批准号: 7149525
• 负责人: Thomas Conrad GILLIAM
• 金额: $ 26.09万
• 依托单位: COLUMBIA UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-09-15 至 2010-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7149525
• 关键词: Alzheimer' s disease; artificial intelligence; autism; bioinformatics; biomedical facility; computational biology; computer program /software; cooperative study; family genetics; functional /structural genomics; genetic disorder; genetic polymorphism; genetic susceptibility; genotype; statistics /biometry

The goal of the proposed studies is to inform and enhance the search for genetic determinants of common, heritable disease by predicting novel candidate genes, and pathways of interacting gene products, likely to harbor genetic variation that influences susceptibility to, or protection against, development of disease. This study will provide a conduit of candidate genes, and gene-networks, that will be genotyped in large, family-based sample collections of Alzheimer's Disease (AD) and autism plus spectrum disorder (ASD) kindreds, respectively. A second goal is to design and apply appropriate statistical and computational methods to analyze the type of novel genetic datasets that will emerge from the proposed studies, and to identify disease related genetic variants. This will require extensive use of evidence integration methods, biomedical literature datamining, and ontologies developed in Cores 9001 and 9002.

拟议的研究的目的是通过预测新型候选基因以及相互作用的基因产物的途径来告知和增强寻找常见，可遗传疾病的遗传决定因素，这可能会影响遗传变异，从而影响对疾病发展的易感性或保护性。这项研究将提供候选基因和基因网络的渠道，这些基因将分别在大型的，基于家庭的阿尔茨海默氏病（AD）和自闭症加谱疾病（ASD）的基于家庭的样本集中。第二个目标是设计和应用适当的统计和计算方法来分析将从拟议的研究中出现的新型遗传数据集的类型，并鉴定疾病 相关的遗传变异。这将需要广泛使用证据整合方法，生物医学文献数据进行的以及在9001和9002中开发的本体。