The NIA Genetics of Alzheimer's Disease Data Storage Site

NIA 阿尔茨海默病遗传学数据存储站点

基本信息

批准号：
8450733
负责人：
LI-SAN WANG
金额：
$ 75.4万
依托单位：
UNIVERSITY OF PENNSYLVANIA
依托单位国家：
美国
项目类别：
财政年份：
2012
资助国家：
美国
起止时间：
2012-04-01 至 2017-03-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8450733
关键词：
Address Agreement Alzheimer&apos s Disease Benchmarking Bioinformatics Collaborations Communities DNA Resequencing Data Data Analyses Data Set Data Storage and Retrieval Databases Deposition Development Disease Funding Future Gap Junctions Generations Genes Genetic Genetic Research Genetic Variation Genome Genomics Genotype Guidelines Hereditary Disease Housing Individual Information Technology International Knowledge Late Onset Alzheimer Disease Light Link Online Systems Pathway interactions Phenotype Policies Procedures Process Publications Qualifying Research Research Infrastructure Research Personnel Resources Running SNP genotyping Sampling Science Scientist Site Structure Surveys Update Variant data sharing exome experience gene interaction genetic resource genome wide association study genome-wide innovation meetings member next generation sequencing non-genetic operation outreach outreach program repository research study response sample collection software development symposium web site

项目摘要

DESCRIPTION (provided by applicant): Recent technological advances in genome-wide SNP genotyping and resequencing are revolutionizing how disease research is conducted. New discoveries in AD genetics and the large influx of data present opportunities and challenge to sharing data and integrating knowledge. We propose to enhance the NIA Genetics of Alzheimer's Disease Storage Site (NIAGADS) to support the community to address these challenges, and become a nexus for research in AD genetics and genomics. The new NIAGADS will be governed by researchers in AD genetics, genomics, and bioinformatics with deep understanding of the priorities and needs by the latest science, and supported by a team with expertise in these fields. The NIAGADS data repository will be expanded to accommodate for next generation sequencing data, larger data submissions, and more requests. Simultaneously, we will enhance the repository through developing and sharing workflows for data analysis, and curate commonly used secondary data such as SNP imputation and annotation. We will develop an integrated genomics database to interlink analysis results with genomic annotations, pathways, and genetic variations from publication databases for easy access. Finally, we will develop collaborative initiatives with major AD genetics resources sponsored by NIA, and will actively promote the database through website, publications, and presentations at major conferences.

描述（由申请人提供）：全基因组 SNP 基因分型和重测序的最新技术进步正在彻底改变疾病研究的进行方式。 AD 遗传学的新发现和大量数据的涌入为共享数据和整合知识带来了机遇和挑战。我们建议加强 NIA 阿尔茨海默病遗传学存储站点 (NIAGADS)，以支持社区应对这些挑战，并成为 AD 遗传学和基因组学研究的纽带。新的 NIAGADS 将由 AD 遗传学、基因组学和生物信息学研究人员管理，他们对最新科学的优先事项和需求有深入了解，并得到在这些领域拥有专业知识的团队的支持。 NIAGADS 数据存储库将进行扩展，以适应下一代测序数据、更大的数据提交和更多请求。同时，我们将通过开发和共享数据分析工作流程来增强存储库，并整理常用的二手数据，例如 SNP 插补和注释。我们将开发一个集成的基因组数据库，将分析结果与出版物数据库中的基因组注释、通路和遗传变异链接起来，以便于访问。最后，我们将与 NIA 赞助的主要 AD 遗传资源开展合作计划，并将通过网站、出版物和在主要会议上的演讲积极推广该数据库。