Whole-genome sequencing of rare disease patients in a national healthcare system
In my talk, I will describe three recently completed research projects I have led or co-led. Firstly, I will describe a genetic association method for rare Mendelian diseases called BeviMed. Secondly, I will present the results of the analyses of whole-genome sequencing (WGS) data for 13,037 participants in an NIHR-funded study, of whom 9,802 had a rare disease. Briefly, we provided a genetic diagnosis to 1,138 patients, we identified 99 BeviMed associations between genes and rare diseases, we showed that rare alleles can explain the presence of some UK Biobank participants in the tails of a quantitative red blood cell trait, and we reported 4 novel non-coding variants which cause disease through the disruption of transcription. Finally, I will describe our analysis of mitochondrial DNA sequences, generated as a by-product of WGS, suggesting that mitochondrial DNA is under selective forces exerted by the nuclear genome.
31 October 2019, 12:00 (Thursday, 3rd week, Michaelmas 2019)
Wellcome Trust Centre for Human Genetics, Headington OX3 7BN
Ernest Turro (University of Cambridge)
Wellcome Trust Centre for Human Genetics
Isabel Schmidt (University of Oxford, Wellcome Centre for Human Genetics)
Members of the University only