Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders.
Leslie Patricia Molina-RamírezClaire KyleJamie M EllingfordRonnie WrightAlgy TaylorSanjeev S BhaskarChristopher CampbellHarriet JacksonAdele FaircloughAbigail RousseauGeorge Joseph BurghelLaura DuttonSiddharth BankaTracy A BriggsJill Clayton-SmithSofia Douzgou HougeElizabeth A JonesHelen M KingstonBronwyn KerrJohn EalingSuresh SomarathiKate E ChandlerHelen M StuartEmma Mm Burkitt-WrightWilliam G NewmanIain A BruceGraeme C BlackDavid GokhalePublished in: Journal of medical genetics (2021)
Our results show that personalised virtual gene panels are a cost-effective approach for variant analysis of CES, maintaining diagnostic yield and optimising the use of resources for clinical genomic sequencing in the clinic.