Germline mismatch repair (MMR) gene analyses from English NHS regional molecular genomics laboratories 1996-2020: development of a national resource of patient-level genomics laboratory records.
Lucy LoongCatherine HuntleyFiona McRonaldFrancesco SantanielloJoanna PethickBethany TorrSophie AllenOliver TullochShilpi GoelBrian ShandTameera RahmanMargreet LuchtenborgAlice GarrettRichard BarberTina BedenhamDavid BournKirsty BradshawClaire BrooksJonathan BrutyGeorge Joseph BurghelSamantha ButlerChris BuxtonAlison CallawayJonathan CallawayJames DrummondMiranda DurkieJoanne FieldLucy JenkinsTerri P McVeighRoger MountfordRodney NyanheteEvgenia PetridesRachel RobinsonTracy ScottVictoria StintonJames TellezAndrew J WallaceLaura Yarram-SmithKate SahanNina HallowellDiana M EcclesPaul David Peter PharoahMarc TischkowitzAntonis C AntoniouDafydd Gareth EvansFiona LallooGail NorburyEva MorrisJohn BurnSteven HardyClare TurnbullPublished in: Journal of medical genetics (2022)
The NDRS MMR dataset is a unique national pan-laboratory amalgamation of individual-level clinical and genomic patient data with pseudonymised identifiers enabling linkage to other national datasets. This growing resource will enable longitudinal research and can form the basis of a live national genomic disease registry.