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).
Genetic research has already produced biological discoveries and personalized treatments, but the field has far to go. This proposal aims to accelerate that research by taking advantage of 23andMe's growing membership of research participants who provide a wide range of personal as well as genetic information. The study will enable 23andMe to greatly increase the scope of their research and lead to new understanding of how genetics impacts human disease.
|Martin, Joanna; Walters, Raymond K; Demontis, Ditte et al. (2018) A Genetic Investigation of Sex Bias in the Prevalence of Attention-Deficit/Hyperactivity Disorder. Biol Psychiatry 83:1044-1053|
|Warrier, Varun; Toro, Roberto; Chakrabarti, Bhismadev et al. (2018) Genome-wide analyses of self-reported empathy: correlations with autism, schizophrenia, and anorexia nervosa. Transl Psychiatry 8:35|
|Warrier, Varun; Baron-Cohen, Simon (2018) Genetic contribution to 'theory of mind' in adolescence. Sci Rep 8:3465|
|Warrier, V; Grasby, K L; Uzefovsky, F et al. (2018) Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition. Mol Psychiatry 23:1402-1409|
|Tsoi, Lam C; Stuart, Philip E; Tian, Chao et al. (2017) Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. Nat Commun 8:15382|
|Lin, Yuan; Chahal, Harvind S; Wu, Wenting et al. (2017) Association between genetic variation within vitamin D receptor-DNA binding sites and risk of basal cell carcinoma. Int J Cancer 140:2085-2091|
|Lin, Yuan; Chahal, Harvind S; Wu, Wenting et al. (2017) Association study of genetic variation in DNA repair pathway genes and risk of basal cell carcinoma. Int J Cancer 141:952-957|
|Ferreira, Manuel A R; Jansen, Rick; Willemsen, Gonneke et al. (2017) Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling. J Allergy Clin Immunol 139:1148-1157|
|Pickrell, Joseph K; Berisa, Tomaz; Liu, Jimmy Z et al. (2016) Detection and interpretation of shared genetic influences on 42 human traits. Nat Genet 48:709-17|
|Revez, J A; Matheson, M C; Hui, J et al. (2016) Identification of STOML2 as a putative novel asthma risk gene associated with IL6R. Allergy 71:1020-30|
Showing the most recent 10 out of 26 publications