Development of a web-based database and research engine for genetic discovery

描述（由申请人提供）：23andMe，Inc.，是一家个人基因组学公司，其使命是通过授权消费者参与研究来加速医学发现。这一使命的核心是23andMe研究引擎，这是一个进行遗传研究的新平台，允许个人通过注册该公司的个人基因组服务（R）和进行在线调查来参与遗传研究。超过13万人提供了遗传和表型数据，而且这个数字每年还在以5万多人的速度增长。我们最初的出版物已经显示了这种基于网络的方法在发现一系列性状和疾病的新遗传关联方面的能力和效率。然而，这些早期的成功只是部分利用了23andMe丰富且快速扩展的数据库。我们目前的挑战是充分挖掘我们正在收集的遗传和表型信息，以加快人类遗传研究的步伐。 在第一阶段的补助金，我们已经证明了这种独特的研究方法的可行性。我们开发了新的计算工具，以便于分析数十万人的数千种表型，策划与许多新表型相关的调查数据，研究我们的遗传数据的可靠性，并进行了几次调查的用户访谈。 在此基础上，在第二阶段，我们将完善现有的调查问题，开发和发布新的调查，并分析所产生的数据的子集，以进一步证明该平台的实用性（目标#1）;实施新的基于网络的数据收集工具，以有效地收集纵向和认知数据（目标#2）;通过统计估算利用即将到来的全基因组序列数据爆炸，使我们有可能发现与疾病相关的罕见SNP（目标3）;测试和完善一个新的工具，23andMe研究门户网站，这将提供外部研究人员访问23andMe数据库（目标#4）。 我们预计，到拟议项目结束时，23andMe数据库将包括超过40万个个体的遗传和表型数据，其中包括几个未充分研究的群体的成员。该数据库有可能产生数千种疾病和性状的新遗传关联，从而对这些疾病、潜在药物靶点和预测个体疾病遗传风险的改进工具有更深入的生物学理解。该项目的一个关键商业成果将是一个对潜在研究伙伴更有价值的数据库和研究引擎。此外，这些发现将为23andMe客户带来新的报告，从而提高个人基因组服务（R）的价值。

DESCRIPTION (provided by applicant): 23andMe, Inc., is a personal genomics company with a mission of accelerating medical discoveries by empowering consumers to participate in research. At the heart of this mission is the 23andMe research engine, a novel platform for conducting genetic studies that allows individuals to participate in genetic research by enrolling in the company's Personal Genome Service(R) and taking online surveys. Over 130,000 individuals have contributed genetic and phenotypic data, and this number is growing by over 50,000 each year. Our initial publications have shown the power and efficiency of this web-based approach for discovering novel genetic associations for a range of traits and diseases. These early successes, however, made only partial use of the rich and rapidly expanding 23andMe database. Our current challenge is to fully mine the genetic and phenotypic information that we are collecting in order to accelerate the pace of human genetic research. In Phase I of this grant, we have demonstrated the feasibility of this unique research approach. We have developed new computational tools to facilitate analysis of thousands of phenotypes in hundreds of thousands of people, curated survey data related to many new phenotypes, studied the reliability of our genetic data, and conducted user interviews for several surveys. Building on this foundation, in Phase II we will refine existing survey questions, develop and post new surveys, and analyze a subset of the resulting data to further demonstrate the utility of this platform (Aim #1); implement novel web-based data collection tools to efficiently gather longitudinal and cognitive data (Aim #2); capitalize on the upcoming explosion of whole-genome sequence data through statistical imputation, making it possible for us to discover rare SNPs associated with disease (Aim #3); and test and refine a new tool, the 23andMe Research Portal, that will provide external researchers access to the 23andMe database (Aim #4). We expect that by the end of the proposed project the 23andMe database will include genetic and phenotypic data for over 400,000 individuals, including members of several understudied populations. This database has the potential to yield thousands of novel genetic associations for diseases and traits, leading to a greater biological understanding of these conditions, potential drug targets, and improved tools to predict an individual's genetic risk of disease. A key commercial outcome of the project will be a database and research engine that is more valuable to potential research partners. Furthermore, discoveries will drive new reports for 23andMe customers, thus increasing the value of the Personal Genome Service(R).