I am currently working as a postdoctoral fellow at Wellcome Sanger Institute, Hinxton. My research focuses on analysing whole genome sequencing data and electronic health records of patients with rare developmental disorders in the 100k Genome project. We are interested in investigating the diagnostic yield and re-annotating parental affected status of patients with rare developmental disorders using electronic health records.
Project Information
Research Driver Programme: Molecules to Health Records
Project Title: Analysis of rare inherited variants stratified by parental health status
Summary:
The aim of this project is to analyse the contribution of inherited variants in rare disease participants data from the 100,000 genomes project and from the Genomic Medicine Service. In some rare disease families, parents have similar conditions to their children, and we anticipate that in these families we may see an increased role for rare inherited variants. In addition to the annotation provided by the recruiting clinician with regard to whether the parent has the same disease as their child, we will use the electronic health record (EHR) data in parents to evaluate whether they share some features of their child’s condition. We will also explore whether some rare inherited variants may only cause a rare genetic disease in combination with an environmental trigger. We will then combine clinical and genetic findings to attempt to link between parental phenotypes and paediatric diseases to improve diagnosis.
Most of the existing work on rare developmental disorders has focussed on the analysis of de novo variants, and this research will help us to better understand the role of inherited variation and penetrance in developmental disorders. This work has provided me with an opportunity to link genetic and electronic health record datasets.
