Integrative analysis of whole genomes and transcriptomes from multiple cell types in rare disease patients

NIH Programme application led by collaborator at Icahn School of Medicine at Mount Sinai NY, USA. Programme objective is to develop and validate novel statistical methodology to identify pathogenic genetic variants in whole genome and other platform data sets from patients with unexplained bleeding and platelet disorders. The project includes analysis of clinical and genomic data from an existing UK patient cohort to train and validate the proposed methodology.