Research Tools to Enable Widespread Access and Use of Add Health GWAS Data

摘要 利用大规模基因分型的基因研究(即“Gwas数据”)越来越普遍，因为 由56,000个独特的单核苷酸多态(SNP)证明-迄今已发现的性状关联 通过全基因组关联研究(GWAS)。Gwas的数据也被用来理解社会遗传 在人口健康和社会科学研究中对遗传易感性的影响、控制和检查 性状间的相关性。尽管越来越多的人采用，但利用GWAS数据的研究在很大程度上仍然局限于 欧洲血统的成年人口往往忽视物质和社会环境。研究对象： 因此，需要Gwas数据与丰富的纵向环境和表型数据相结合才能允许 动态、多层次、综合的健康研究方法，包括双向生物学和背景研究 随着时间的推移，它们的贡献及其相互作用。全国青少年与成人健康纵向研究(新增 健康)是一项持续的、具有全国代表性的、多种族的纵向研究，研究对象是 从青春期早期到成年期的健康和发育轨迹中的生物学联系。作为唯一的 具有全国代表性的对年轻人的纵向研究，包括多层次的社会，行为， 环境和生物数据(包括最近通过美国国家卫生研究院批准的DBGaP获得的Gwas数据 存储库)，Add Health处于很好的位置来解决这些研究差距。然而，数量众多且坚持不懈 挑战阻碍了研究界广泛使用全球气候变化数据。具体而言，添加健康用户可以 对高的概念化、访问、存储、理解、分析和解释准备不足 维度(即&gt；3000万个SNPs)Gwas数据，这一印象得到了我们最近对用户的调查的支持。至 为了能够广泛使用这一宝贵的资源，本应用程序的目标是：(1)开发资源以帮助用户 访问、理解、分析和解释ADD Health Gwas数据；以及(2)发起和支持 Add Health Gwas数据用户的科学社区。拟议的应用程序建立在25年的基础上 Add Health调查员致力于用户支持和数据传播，这导致了多产 具有无与伦比的学科广度的研究成果。我们相信，拟议的资源，即 如果没有专门的资金，将不会开发，将加快获取和促进高质量的研究 由一组新的研究人员添加健康Gwas数据，他们可能对Gwas数据几乎没有经验。 最终，我们预计这项应用将使Add Health社会基因组学研究的影响成倍增加 整个科学界，并为新的科学发现提供刺激。

ABSTRACT Genetic studies leveraging large-scale genotyping (i.e., “GWAS data”) are increasingly ubiquitous, as demonstrated by the >56,000 unique single nucleotide polymorphism (SNP)-trait associations identified to-date by genome-wide association studies (GWAS). GWAS data also are being used to understand social-genetic effects, control for genetic predispositions in population health and social science studies, and examine genetic correlation between traits. Despite growing adoption, studies leveraging GWAS data remain largely limited to adult populations of European ancestry and tend to ignore the physical and social environment. Studies with GWAS data combined with rich, longitudinal environmental and phenotype data are therefore needed to permit dynamic, multilevel, integrative research approaches to health that capture bidirectional biological and contextual contributions and their interactions over time. The National Longitudinal Study of Adolescent to Adult Health (Add Health) is an ongoing, nationally representative, multiethnic longitudinal study of the social, behavioral, and biological linkages in health and developmental trajectories from early adolescence into adulthood. As the only nationally representative longitudinal study of young adults that contains multilevel social, behavioral, environmental, and biological data (including recently available GWAS data through dbGaP, a NIH-sanctioned repository), Add Health is well positioned to address these research gaps. However, numerous and persistent challenges prevent broad usage of GWAS data by the research community. Specifically, Add Health users may be ill-prepared for conceptualizing, accessing, storing, understanding, analyzing, and interpreting high dimensional (i.e. >30 million SNPs) GWAS data, an impression supported by our recent survey of users. To enable widespread use of this valuable resource, this application aims to: (1) develop resources to aid users in accessing, understanding, analyzing, and interpreting Add Health GWAS data; and (2) initiate and support a scientific community of Add Health GWAS data users. The proposed application builds upon a 25-year commitment of Add Health investigators to user support and data dissemination, which has resulted in prolific research production with unparalleled disciplinary breadth. We are confident that the proposed resources, which will not be developed without dedicated funding, will expedite access to and facilitate high-quality studies of the Add Health GWAS data by a new group of investigators who may have little-to-no experience with GWAS data. Ultimately, we anticipate that this application will multiply the impact of Add Health sociogenomics research throughout the scientific community and provide a stimulus for new scientific discovery.