Diagnostic exome sequencing carried out by the Exeter Exome team at the Molecular Genetics department has been highlighted in a publication accepted this month by the journal Prenatal Diagnosis. The paper outlines the parental exome sequencing strategy used in 50 consecutive cases to diagnose lethal autosomal recessive disorders in couples who have endured unsuccessful pregnancies. It describes how, using exome sequencing, it is possible to determine which genetic variants are likely to be causative and so enable prenatal testing for future pregnancies and improve patient outcomes. The paper abstract can be found by clicking on this link.
