Whole-genome sequencing of patients with rare diseases in a national health system.
Ernest TurroWilliam J. AstleKaryn MegyStefan GräfDaniel GreeneOlga ShamardinaHana Lango AllenAlba Sanchis-JuanMattia FrontiniChantal ThysJonathan StephensRutendo MapetaOliver S. BurrenKate DownesMatthias HaimelSalih TunaSri V. V. DeeviTimothy J. AitmanDavid L. BennettPaul CallejaKeren CarssMark J. CaulfieldPatrick F. ChinneryPeter H. DixonDaniel P. GaleRoger JamesAnia KoziellMichael A. LaffanAdam P. LevineEamonn R. MaherHugh S. MarkusJoannella MoralesNicholas W. MorrellAndrew D. MumfordElizabeth OrmondroydStuart RankinAugusto RendonSylvia RichardsonIrene RobertsNoemi B. A. RoyMoin A. SaleemKenneth G. C. SmithHannah StarkRhea Y. Y. TanAndreas C. ThemistocleousAdrian J. ThrasherHugh WatkinsAndrew R. WebsterMartin R. WilkinsCatherine WilliamsonJames WhitworthSean HumphrayDavid R. BentleyStephen AbbsLara AbulhoulJulian AdlardMunaza AhmedHana AlachkarDavid J. AllsupJeff Almeida-KingPhilip AncliffRichard AntrobusRuth ArmstrongGavin ArnoSofie AshfordAnthony AttwoodPaul AuroraChristian BabbsChiara BacchelliTamam BakchoulSiddharth BankaTadbir BarianaJulian BarwellJoana BatistaHelen E. BaxendalePhil L. BealesAgnieszka BierzynskaTina BissMaria A. K. Bitner-GlindziczGraeme C. M. BlackMarta BledaIulia BlesneacDetlef BockenhauerHarm BogaardChristian J. BourneSara BoyceJohn R. BradleyEugene BraginGerome BreenPaul BrennanCarole BrewerMatthew BrownAndrew C. BrowningMichael J. BrowningRachel J. BuchanMatthew S. BucklandTeofila BueserCarmen Bugarin DizJohn BurnSiobhan O. BurnsNigel BurrowsCarolyn CampbellGerald Carr-WhiteRuth CaseyJenny ChambersJohn ChambersMelanie M. Y. ChanCalvin CheahFloria ChengManali ChitreMartin T. ChristianColin ChurchJill Clayton-SmithMaureen ClearyNaomi Clements BrodGerry CoghlanElizabeth ColbyTrevor R. P. ColeJanine CollinsPeter W. CollinsCamilla ColomboCecilia J. ComptonRobin CondliffeStuart A. CookH. Terence CookNichola CooperPaul A. CorrisAbigail FurnellFiona CunninghamNicola S. CurryAntony J. CutlerMatthew J. DanielsMehul DattaniLouise C. DaughertyJohn DavisAnthony De SoyzaTimothy DentCharu DeshpandeEleanor F. DewhurstSofia DouzgouAnna M. DrazykElizabeth DreweDaniel DuarteTina DuttJ. David M. EdgarKaren EdwardsWilliam EgnerMelanie N. EkaniPerry ElliottWendy N. ErberMarie ErwoodMaria C. EstiuDafydd Gareth EvansGillian EvansTamara EveringtonMélanie EyriesHiva FassihiRemi FavierJack FindhammerDebra FletcherFrances A. FlinterR. Andres FlotoTom FowlerJames FoxAmy J. FraryCourtney E. FrenchKathleen FresonHenning GallVijeya GanesanMichael GattensClaire GeogheganTerence S. A. GerightyAli G. GharaviStefano GhioHossein-Ardeschir GhofraniJ. Simon R. GibbsKate GibsonKimberly C. GilmourBarbara GirerdNicholas S. GleadallSarah GoddardDavid B. 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PenkettJoanna Pepke-ZabaRomina PetersenClarissa PilkingtonKenneth E. S. PooleRadhika PrathalingamBethan PsailaAngela PyleRichard QuintonShamima RahmanAnupama RaoF. Lucy RaymondPaula J. Rayner-MatthewsChristine ReesTara RentonChristopher J. RhodesAndrew S. C. RiceAlex RichterLeema RobertAnthony RogersSarah J. RoseRobert Ross-RussellCatherine RoughleyDeborah M. RuddyOmid Sadeghi-AlavijehNilesh J. SamaniCrina SamarghiteanRavishankar B. SargurRobert N. SarkanySimon SatchellSinisa SavicJohn A. SayerGenevieve SayerLaura ScelsiAndrew M. SchaeferSol SchulmanRichard ScottMarie ScullyClaire SearleWerner SeegerArjune SenW. A. Carrock SewellDenis SeyresNeil ShahSusan E. ShapiroAdam C. ShawPatrick J. ShortKeith SibsonLucy SideIlenia SimeoniMichael A. SimpsonMatthew C. SimsSuthesh SivapalaratnamDamian SmedleyKatherine R. SmithKatie SnapeNicole SoranzoFlorent SoubrierLaura SouthgateOlivera Spasic-BoskovicSimon StainesEmily StaplesCharles A. StewardKathleen E. StirrupsAlex StuckeyJay SuntharalingamEmilia M. SwietlikPetros SyrrisR. Campbell TaitKate TalksKatie TateJohn M. TaylorJenny C. TaylorJames E. ThaventhiranEllen ThomasDavid ThomasMoira J. ThomasPatrick ThomasKate ThomsonGlen ThreadgoldTobias TillyMarc TischkowitzCatherine TittertonJohn A. ToddCheng-Hock TohBas TolhuisIan P. TomlinsonMark ToshnerMatthew TraylorCarmen TreacyPaul TreadawayRichard TrembathWojciech TurekPhilip TwissTom ValeChris Van GeetNatalie van ZuydamMaarten VandekuilenAnthony M. VandersteenMarta Vazquez-LopezJulie von ZiegenweidtAnton Vonk-NoordegraafAnnette WagnerQuinten WaisfiszSuellen M. WalkerNeil WalkerKlaudia WalterJames S. WareChristopher WattLucy WedderburnWei WeiSteven B. WelchJulie WesselsSarah K. WestburyJohn-Paul WestwoodJohn WhartonDeborah WhitehornAndrew O. M. WilkieBrian T. WilsonEdwin K. S. WongNicholas W. WoodYvette WoodChristopher Geoffrey WoodsEmma R. WoodwardStephen J. WortAusten WorthMichael WrightKatherine YatesPatrick F. K. YongTimothy YoungPing YuPatrick Yu-Wai-ManEliska ZlamalovaPublished in: Nat. (2020)
Keyphrases
- national health
- clinically relevant
- cardiovascular disease
- neurodegenerative diseases
- colorectal cancer
- diabetes mellitus
- clinical diagnosis
- medical doctors
- early diagnosis
- patient groups
- medical practitioners
- infectious disease
- health related
- smoking cessation
- clinical data
- disease progression
- breast cancer patients
- risk factors
- medical care
- rare events
- patient data
- medical data
- medical diagnosis
- disease outbreaks
- public health
- computer aided
- decision support system
- vital signs
- normal subjects
- genomic sequences
- normal controls
- medical knowledge
- mixed model assembly
- breast cancer