Development and application of novel methods for large scale genetic studies in Chinese and UK populations
Large biobanks, including UK Biobank (UKB) and China Kadoorie Biobank (CKB), are accumulating detailed and complex data including questionnaire-based health and lifestyle data; detailed physical and biomarkers measurements; and prospective follow-up for disease events. The recent availability of corresponding genome-wide genotyping datasets (0.5M for UKB; 102,000 for CKB, with whole genome sequencing of both biobanks underway) provides unprecedented opportunities for investigating the genetic architecture underlying disease risk and disease risk factors.
However, many interesting behaviours or phenotypes are within highly complex data structures, and investigation of these requires development and/or application of novel approaches to genetic association analysis.
RESEARCH EXPERIENCE, RESEARCH METHODS AND TRAINING
This project will involve the development, testing and application of new methods for investigating the contribution of genetic variation to phenotypes of interest. Depending on the student’s interests and capabilities, the project will involve one or more of the following:
- Development and testing of efficient analytical pipelines for large-scale genome wide association studies of individual and/or multiple phenotypes
- Formulation and coding/programming of novel analytical approaches
- Application of new and existing methods to investigate disease and phenotype heritability in UKB and CKB datasets
- Integration of association results with expression, pathway or other external datasets, to elucidate the functional basis for the observed associations
- Investigation of differences in genetic architecture of UK and Chinese populations
There will be in-house training in epidemiology and in statistical and computational genetics, and attendance at relevant courses including the Wellcome Trust course “Genetic Analysis of Population-based Association Studies”. By the end of the DPhil, the student will be able to plan, undertake and interpret analyses of large-scale genetic and epidemiological data, and to report research findings, including publications as the lead author in peer-reviewed journals and presentation at national/international conferences.
FIELD WORK, SECONDMENTS, INDUSTRY PLACEMENTS AND TRAINING
The project will be based within the China Kadoorie Biobank research group, part of the Nuffield Department of Population Health and based in the Big Data Institute. There are excellent facilities and a world-class community of genomics and population health scientists. There will be opportunities to collaborate across scientific disciplines and potential for involvement in international collaborations and/or consortia, depending on the direction of the project.
The candidate should have a strong background in genetics, statistics and/or computational biology. The project will involve large-scale data and statistical analyses and, therefore, requires some previous statistical and programming training/experience, and aptitude for and interest in extending these skills.