Clinically relevant CNV detection via WGS and ExomeCG WES – towards a single assay approach
As part of the ESHG 2020 Virtual Annual Meeting, Dominic McMullan speaks on how Birmingham Women’s and Children’s NHS Foundation Trust have been detecting clinically relevant CNVs using WGS and ExomeCG WES. Dom highlights the results from their validation of the ExomeCG assay, as well as the benefits of using a single assay approach.
Head Genomics Programme Birmingham Women’s and Children’s NHS Foundation Trust
Dom McMullan is a Consultant Clinical Scientist at West Midlands Regional Genetics Laboratories, Birmingham and leads the Germline Programme of the laboratory service, which encapsulates all rare disease and reproductive genetic testing serving a patient population of ~5.5 million. He is Chair of Association of Clinical Genetic Science (ACGS) in the UK. His main interests lie broadly in application of genomic technologies in detection and interpretation of structural and sequence variation; in particular in patients with developmental disorders/congenital anomalies both in the postnatal and prenatal settings and he is co-applicant/collaborator and WMRGL lead on the UK National Health Innovation Challenge Fund (HICF) Prenatal Assessment of Genomes and Exomes (PAGE) project.