Genetics, Genomics and Epigenetics

Our wide-ranging Genomics theme aims to translate genomic science into health benefits.

Our work includes: using genome sequencing to diagnose and manage rare monogenic conditions; analysing the role of genomic and epigenomic variation in common complex diseases and traits; using long-read transcript sequencing to explore alternative splicing in health and disease; and evaluating the use of polygenic risk scores and pharmacogenomic markers to inform treatment.