BIO Seminar: Caroline F Wright

Speaker: Senior Lecturer Caroline F Wright, College of Medicin and Health, University of Exeter, UK

Host:  Professor Kresten Lindorff-Larsen, Section for Biomolecular Sciences

Abstract
Genome-wide sequencing is increasingly being used in research and clinical practice to diagnose rare disease. However, due to the enormous amount of normal genomic variation, interpretation of rare genetic variants remains challenging. The UK-wide Deciphering Developmental Disorders (DDD) Study has brought together hundreds of clinicians and scientists with thousands of families to pioneer new methods of gene discovery and variant interpretation in rare developmental disorders. I will outline the DDD Study and describe some of its key findings, focussing particularly on the analysis of rare genetic variants.