100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
null nullDamian SmedleyKatherine R SmithAntonio MartinEllen A ThomasEllen M McDonaghValentina CiprianiJamie M EllingfordGavin ArnoArianna TucciJana VandrovcovaGeorgia ChanHywel J WilliamsThiloka RatnaikeWei WeiKathleen StirrupsKristina IbanezLoukas MoutsianasMatthias WielscherAnna NeedMichael R BarnesLetizia VestitoJames BuchananSarah WordsworthSofie AshfordKarola RehmströmEmily LiGavin FullerPhilip TwissOlivera Spasic-BoskovicSally HalsallR Andres FlotoKenneth PooleAnnette WagnerSarju G MehtaMark GurnellNigel BurrowsRoger JamesChristopher PenkettEleanor DewhurstStefan GräfRutendo MapetaMary KasanickiAndrea HaworthHelen SavageMelanie BabcockMartin G ReeseMark BaleEmma BapleChristopher BoustredHelen BrittainAnna de BurcaMarta BledaAndrew DevereauDina HalaiEik HaraldsdottirZerin HyderDalia KasperaviciuteChristine PatchDimitris PolychronopoulosAngela MatchanRazvan SultanaMina RytenAna L T TavaresCarolyn TregidgoClare TurnbullMatthew WellandSuzanne WoodCatherine SnowEleanor WilliamsSarah LeighRebecca E FoulgerLouise C DaughertyOlivia NiblockIvone U S LeongCaroline F WrightJim DaviesCharles CrichtonJames WelchKerrie WoodsLara AbulhoulPaul AuroraDetlef BockenhauerAlexander BroomfieldMaureen A ClearyTanya LamMehul DattaniEmma FootittVijeya GanesanStephanie GrunewaldSandrine Compeyrot-LacassagneFrancesco MuntoniClarissa PilkingtonRosaline QuinlivanNikhil ThaparColin WallisLucy R WedderburnAusten WorthTeofila BueserCecilia ComptonCharu DeshpandeHiva FassihiEshika HaqueLouise IzattDragana JosifovaShehla MohammedLeema RobertSarah RoseDeborah RuddyRobert SarkanyGenevieve SayAdam C ShawAgata WolejkoBishoy HabibGavin BurnsSarah HunterRussell J GrocockSean J HumphrayPeter Nick RobinsonMelissa HaendelMichael A SimpsonSiddharth BankaJill Clayton-SmithSofia DouzgouGeorgina HallHuw B ThomasRaymond T O'KeefeMichel MichaelidesAnthony T MooreSam MalkaNikolas PontikosAndrew C BrowningVolker StraubGráinne Siobhan GormanRita HorvathRichard QuintonAndrew M SchaeferPatrick Yu-Wai-ManDoug M TurnbullRobert McFarlandRobert W TaylorEmer O'ConnorJanice YipKatrina NewlandHuw R MorrisJames PolkeNicholas W WoodCarolyn CampbellCarme CampsKate GibsonNils KoellingTracy LesterAndrea H NémethClaire PallesSmita PatelNoemi B A RoyArjune SenJohn TaylorPilar CacheiroJulius O JacobsenEleanor G SeabyVal DavisonLyn ChittyAngela DouglasKikkeri NareshDom McMullanSian EllardI Karen TempleAndrew D MumfordGill WilsonPhil BealesMaria Bitner-GlindziczGraeme BlackJohn R BradleyPaul BrennanJohn BurnPatrick F ChinneryPerry Mark ElliottFrances FlinterHenry HouldenMelita IrvingWilliam NewmanShamima RahmanJohn A SayerJenny C TaylorAndrew R WebsterAndrew O M WilkieWillem H OuwehandF Lucy RaymondJohn ChisholmSue HillDavid BentleyRichard H ScottTom FowlerAugusto RendonMark CaulfieldPublished in: The New England journal of medicine (2021)
Our pilot study of genome sequencing in a national health care system showed an increase in diagnostic yield across a range of rare diseases. (Funded by the National Institute for Health Research and others.).