Genetic and genomic investigations of diseases and risk factors such as: stroke; smoking and lung function; metabolomics; food preference and diet; infection and immunity
Genetic association studies have been successful in identifying genes and pathways that play roles in a wide range of diseases and disease risk factors, but the majority of such studies have used individuals predominantly of European ancestry. It is becoming increasingly important to understand the genetic architecture of disease and disease traits in ancestries other than Europeans, not only to understand the difference between populations, but also to exploit the contrasting patterns of association for “fine mapping” of the “causal variants” that are responsible for the observed association.
The China Kadoorie Biobank (CKB) study (www.ckbiobank.org) of over 0.5 million adults is one of the largest non-European population cohorts. It includes extensive questionnaire-based health and lifestyle data and detailed physical measurements collected at baseline; and prospective follow-up for incident events from disease registries and health insurance data. Additionally, a resurvey of 25,000 individuals included additional measurements such as electrocardiogram, blood lipids and urine markers; and blood biomarkers, NMR metabolomics, and proteomics have been measured subsets of individuals.
Genome-wide genotyping, with imputation of 10M genetic variants, was recently completed for 100,000 CKB participants, providing unprecedented opportunities for conducting large-scale genetic association studies of disease and disease risk factors in non-Europeans.
RESEARCH EXPERIENCE, RESEARCH METHODS AND TRAINING
The student will have the opportunity to choose from a wide range of genetics and genomics projects, all of which will include: genome-wide association analysis of relevant traits; experience in all stages of data QC and association analysis; meta-analysis of association data within CKB and/or in combination with data from other studies; potential for involvement in international collaborations and/or consortia.
Examples of possible project areas include:
- Stroke and stroke subtypes
- Smoking and lung function
- Food preference and diet
- Infection and immunity
There will be in-house training in epidemiology and in statistical and computational genetics, and attendance at relevant courses including the Wellcome Trust course “Design and Analysis of Genetic-based Association Studies”.
FIELD WORK, SECONDMENTS, INDUSTRY PLACEMENTS AND TRAINING
The project will be based within the CKB 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 2.1 or higher degree, with 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.