Multi-ethnic risk prediction for complex human diseases integrating multi-source genetic and non-genetic information

University Of Pennsylvania, Philadelphia PA

Investigators

Linked publications, trials & patents

Abstract

In genome-wide association studies (GWAS), the lack of data sources for non-European populations results in polygenic risk prediction models that have low transferability across populations. This problem exists in many epidemiologic studies and impacts public health much more broadly. Furthermore, the rapid identification of novel risk factors for complex diseases brings increasing opportunities to develop comprehensive risk prediction models to combine information on genetic and other types of risk factors. The scientific goal of this proposal is to provide enhanced disease risk prediction tools for the general population integrating genetic and other data sources across disparate studies. The specific aims include: (Aim 1) develop enhanced genetic risk prediction models combining GWAS summary statistics with external genomic information, and extend the method to jointly analyze multiple related diseases; (Aim 2) develop a flexible statistical framework that can integrate population-specific, summary-level risk parameter estimates for genetic markers and a variety of other risk factors to further improve multi-population disease risk prediction; and (Aim 3) develop and validate the risk prediction models for leading causes of mortality and other complex traits/diseases, distribute user-friendly software and tools, and investigate their clinical utilization through applications in precision medicine. Dr. Jin’s long-term goal is to establish an interdisciplinary research program that combines statistical genetics, functional genomics and epidemiology, and develop novel statistical and computational methodologies for integrating multi-source health-related data to improve healthcare. This award will facilitate the necessary training required for Jin’s successful transition to independence, including support from the mentoring and advisory committee, advanced coursework, and active participation in collaborations, workshops, and scientific conferences. Jin will gain expertise that complements her current skill set through working closely with a highly multidisciplinary mentoring team with a combined expertise in statistical genetics, genomics, epidemiology, and precision medicine. Johns Hopkins University provides young researchers with an active and engaging intellectual environment, with tremendous opportunities for interdisciplinary collaborations and career development services such as teaching institute, grant writing workshops and interview skills practice. The research supported by this grant will generate enhanced, user-friendly disease risk prediction tools for the general population, as well as data integration methodologies that can be widely implemented by the community to accelerate future research in disease risk prediction and prevention. Upon completing this award, Jin will gain a critical set of skills in research, mentoring, communication and management that will ensure her success in establishing an independent research program and pursuing broader career goals.