The NIA Genetics of Alzheimer's Disease Data Storage Site

描述(由申请人提供)：全基因组SNP基因分型和重新测序方面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给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的研究人员管理，他们深入了解最新科学的优先事项和需求，并由拥有这些领域专业知识的团队提供支持。NIAGADS数据库将进行扩展，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，并精选常用的二级数据，如SNP推算和注释。我们将开发一个综合基因组学数据库，将分析结果与出版物数据库中的基因组注释、途径和遗传变异联系起来，以便于访问。最后，我们将与NIA赞助的主要AD遗传学资源开展合作倡议，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。

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.