Recommendations for laboratory workflow that better support centralised amalgamation of genomic variant data: findings from CanVIG-UK national molecular laboratory survey.
Sophie AllenLucy LoongAlice GarrettBethany TorrMiranda DurkieJames DrummondAlison CallawayRachel RobinsonGeorge Joseph BurghelHelen HansonJoanne FieldTrudi McDevittTerri P McVeighTina BedenhamChristopher BowlesKirsty BradshawClaire BrooksSamantha ButlerJuan Carlos Del Rey JimenezLorraine HawkesVictoria StintonSuzanne MacMahonMartina OwensSheila Palmer-SmithKenneth SmithJames TellezMikel Valganon-PetrizanErik WaskiewiczMichael YauDiana M EcclesMarc TischkowitzShilpi GoelFiona McRonaldAntonis C AntoniouEva MorrisSteven HardyCatherine HuntleyPublished in: Journal of medical genetics (2024)
The survey responses illustrate heterogeneous laboratory workflow for preparation of genomic variant data from local LIMS for centralised submission. Workflow is often labour-intensive and inefficient, involving multiple manual steps which introduce opportunities for error. These survey findings and adoption of the concomitant recommendations may support improvement in laboratory dataflows, better facilitating submission of data for central amalgamation.