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

开发基于网络的数据库和基因发现研究引擎

• 批准号: 8591464
• 负责人: Joanna L. MOUNTAIN
• 金额: $ 80.6万
• 依托单位: 23ANDME, INC.
• 依托单位国家: 美国
• 财政年份: 2012
• 资助国家: 美国
• 起止时间: 2012-09-17 至 2015-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8591464
• 关键词: Ashkenazim; Biological; Cognitive; Collection; Data; Data Aggregation; Data Collection; Data Quality; Data Set; Databases; Development; Disease; Drug Targeting; Enrollment; Explosion; Foundations; Genes; Genetic; Genetic Databases; Genetic Research; Genetic Risk; Genome; Genomics; Genotype; Grant; Health; Heart; Human Genetics; Individual; Interview; Lead; Learning; Medical; Mining; Mission; Mutation; Nature; Online Systems; Outcome; Participant; Patient Self-Report; Phase; Phenotype; Population; Privacy; Publications; Publishing; Questionnaires; Reporting; Research; Research Infrastructure; Research Personnel; Services; Single Nucleotide Polymorphism; Surveys; Testing; Variant; Work; base; cohort; computerized tools; drug development; empowered; follower of religion Jewish; genetic association; genetic variant; genome sequencing; human disease; improved; interest; member; novel; programs; public health relevance; response; success; tool; trait; usability; web site; web-enabled

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).

描述(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。这项任务的核心是23andMe研究引擎，这是一个进行基因研究的新型平台，允许个人通过注册公司的个人基因组服务(R)和进行在线调查来参与基因研究。超过13万人贡献了遗传和表型数据，而且这个数字每年都在以超过5万人的速度增长。我们最初的出版物已经展示了这种基于网络的方法在发现一系列特征和疾病的新基因关联方面的力量和效率。然而，这些早期的成功只部分利用了丰富且迅速扩张的23andMe数据库。我们目前面临的挑战是充分挖掘我们正在收集的遗传和表型信息，以加快人类基因研究的步伐。在这笔赠款的第一阶段，我们已经证明了这一独特研究方法的可行性。我们开发了新的计算工具来促进对数十万人的数千种表型的分析，整理了与许多新表型相关的调查数据，研究了我们基因数据的可靠性，并为几项调查进行了用户访谈。在此基础上，在第二阶段，我们将完善现有调查问题，开发和发布新的调查，并分析结果数据的子集，以进一步展示该平台的效用(目标#1)；实施新颖的网络数据收集工具，以高效地收集纵向和认知数据(目标#2)；通过统计归因利用即将到来的全基因组序列数据爆炸式增长，使我们能够发现与疾病相关的罕见SNPs(目标#3)；以及测试和完善新工具23andMe研究门户网站，它将使外部研究人员能够访问23andMe数据库(目标#4)。我们预计，到拟议的项目结束时，23andMe数据库将包括400,000多名个人的遗传和表型数据，其中包括几个未被研究的群体的成员。这个数据库有可能产生数千种与疾病和特征有关的新基因，从而在生物学上更好地了解这些疾病、潜在的药物靶点，并改进预测个人疾病遗传风险的工具。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，这些发现将推动23andMe客户的新报告，从而增加个人基因组服务(R)的价值。