Investigating the genetic control of complex traits
We are looking at different approaches to determine the distribution and effect of genetic variants affecting complex traits. Building on the Regional Mapping approach, and combining both haplotype and SNP based methods, we are analysing data from Generation Scotland and UKBiobank.
Previous work has been carried out by Richard Oppong, a Darwin Trust of Edinburgh funded PhD student, in collaboration with Chris Haley and Pau Navarro (MRC Human Genetics Unit, Institute of Genetics and Cancer, and Roslin Institute). Eilidh Fummey, a BBSRC funded PhD student, built on this work to consider exome sequence data and Caelinn James, a NERC funded PhD student, with collaborator Josephine Pemberton, investigated the use of these approaches to determine the genetic architecture of traits in Soay sheep.
MRC Human Genetics Unit - Institute of Genetics and Cancer
The Roslin Institute - The University of Edinburgh
Josephine Pemberton Group website
New work combines genomic and phenotypic data with additional information, such as from methylation data, proteomics and functional annotations.
Current projects
Investigating the genetic and epigenetic mechanisms that control disease
Using large scale DNA methylation data, available from Generation Scotland, metabolite and protein measures and publicly available GWAS and expression data we are hoping to get new insights on the genetic and epigenetic mechanisms that control disease. Michael Barber, a Precision Medicine PhD student, is initially looking at genetic variants that are associated with DNA methylation. Subsequent analyses will investigate the mechanisms through which these genetic variants affect methylation and disease.
Precision Medicine Doctoral Training Programme page
Harnessing genome characterisation to uncover disease mechanisms
Making use of published genome wide association study (GWAS) summary statistics and incorporating functional annotations and other omics data, we are aiming to determine the mechanism of causation and the control of disease variation. In collaboration with Sara Brown and Pau Navarro, Precision Medicine PhD student, Silvia Shen, is focussing on understanding the genetics of atopic dermatitis.