This person is a member of Sanger Institute Alumni.
Sophie is a Wellcome Trust funded PhD student working on the genetic overlap between different metabolic and musculoskeletal traits. Using statistical and computational methods, Sophie's research aims to identify regions of the genome influencing several disorders.
The term “pleiotropy” describes the phenomenon of a single genetic variant influencing multiple traits of an organism. The overarching aim of my PhD is to identify such variants in order to gain a better understanding of disease biology. Studying the shared genetics of common disorders holds the potential to refine their medical classification and clinical management.
Some of the key questions I am interest in are:
- To what extent does genetics explain the epidemiologic overlap of complex traits?
- Which loci in the genome govern the co-occurrence of disorders?
- What statistical models are best suited to tease out pleiotropic variants from large-scale genetic data?
To find answers to these questions I use both summary and individual level data from genome-wide association studies of different traits and disorders. As my PhD progresses I am also keen to think about designing new approaches to detect pleiotropic regions.
Although my current work is entirely computational, I started out as a “wet-lab” scientist. During and after my undergraduate degree I worked on a broad range of topics, including psychiatric epigenetics, B cell class-switching and microRNAs in the developing immune system.