Genomics

Genetics and genomics play a central role in investigations of human disease and its underlying causes and mechanisms. Methods such as genome-wide association studies (GWAS) have underpinned the discovery of many factors relevant for improved disease prediction, prevention, and treatment. However, such studies have been mostly conducted in populations of European descent, and it remains unclear to what extent their findings are relevant or transferable to populations of other ancestries. Our research combines CKB genetic resources (link to resources case-study), trait and disease data, and external datasets (e.g. UK Biobank), to investigate the contribution of genetics to disease risk and aetiology, and how it varies between different populations.

Our current and planned research aims include:

• to conduct GWAS of diseases and their risk factors in the Chinese population;
• to compare the genetic architectures and shared heritability of traits and diseases in different ancestries;
• to develop and implement methodologies for combining genetic data from multiple ancestries, including trans-ancestry GWAS meta-analysis;
• to investigate how genetic variation in China contributes to geographic patterns of disease prevalence;
• to derive genetic scores for prediction of disease in East Asian populations, and for determining the contribution of risk factors to diseases;

This work includes ongoing participation in a wide range of international collaborations and consortia. We are also continuing to further enhance the CKB genetic resources (e.g. through whole genome sequencing) to strengthen existing studies and to enable new avenues of investigation.