Whole-genome sequencing of patients with rare diseases in a national health system.
Actin-Related Protein 2-3 Complex
/ genetics
Adaptor Proteins, Signal Transducing
/ genetics
Alleles
Databases, Factual
Erythrocytes
/ metabolism
GATA1 Transcription Factor
/ genetics
Humans
Internationality
National Health Programs
Phenotype
Quantitative Trait Loci
Rare Diseases
/ diagnosis
Receptors, Thrombopoietin
/ genetics
State Medicine
United Kingdom
Whole Genome Sequencing
Journal
Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462
Informations de publication
Date de publication:
07 2020
07 2020
Historique:
received:
23
12
2018
accepted:
05
05
2020
pubmed:
26
6
2020
medline:
24
7
2020
entrez:
26
6
2020
Statut:
ppublish
Résumé
Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered
Identifiants
pubmed: 32581362
doi: 10.1038/s41586-020-2434-2
pii: 10.1038/s41586-020-2434-2
pmc: PMC7610553
mid: EMS104398
doi:
Substances chimiques
ARPC1B protein, human
0
Actin-Related Protein 2-3 Complex
0
Adaptor Proteins, Signal Transducing
0
GATA1 Transcription Factor
0
GATA1 protein, human
0
Receptors, Thrombopoietin
0
MPL protein, human
143641-95-6
LRBA protein, human
EC 2.7.10.-
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
96-102Subventions
Organisme : Wellcome Trust
ID : 202747/Z/16/Z
Pays : United Kingdom
Organisme : Department of Health
ID : RP-2016-07-019
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N025431/2
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0800571
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 201064
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/J011711/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1002528
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 204809/Z/16/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0701386
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 204809
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S025502/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT108749/Z/15/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_17228
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 107469
Pays : United Kingdom
Organisme : British Heart Foundation
ID : FS/18/53/33863
Pays : United Kingdom
Organisme : Cancer Research UK
ID : 29034
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 098519
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 202747
Pays : United Kingdom
Organisme : British Heart Foundation
ID : CH/1992001/6764
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N025431/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/N010035/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/K020919/1
Pays : United Kingdom
Organisme : British Heart Foundation
ID : FS/18/52/33808
Pays : United Kingdom
Organisme : Cancer Research UK
ID : 28051
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1000848
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/P02002X/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L019027/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_EX_MR/M009203/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G1002570
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M012212/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_18030
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_15080
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R002363/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT098519MA
Pays : United Kingdom
Organisme : Wellcome Trust
ID : WT200990/Z/16/Z
Pays : United Kingdom
Organisme : European Research Council
ID : 309548
Pays : International
Organisme : Wellcome Trust
ID : 212219
Pays : United Kingdom
Organisme : British Heart Foundation
ID : SP/12/12/29836
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 107469/Z/15/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 109915/Z/15/Z
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 090532
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 095908
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/M009203/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/S021329/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 108749
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_U120085815
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L006340/1
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RG/16/4/32218
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 212219/Z/18/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/R013942/1
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 109915
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 201064/Z/16/Z
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_QA137853
Pays : United Kingdom
Organisme : Medical Research Council
ID : MC_PC_14089
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 200990
Pays : United Kingdom
Investigateurs
Stephen Abbs
(S)
Lara Abulhoul
(L)
Julian Adlard
(J)
Munaza Ahmed
(M)
Timothy J Aitman
(TJ)
Hana Alachkar
(H)
David J Allsup
(DJ)
Jeff Almeida-King
(J)
Philip Ancliff
(P)
Richard Antrobus
(R)
Ruth Armstrong
(R)
Gavin Arno
(G)
Sofie Ashford
(S)
William J Astle
(WJ)
Anthony Attwood
(A)
Paul Aurora
(P)
Christian Babbs
(C)
Chiara Bacchelli
(C)
Tamam Bakchoul
(T)
Siddharth Banka
(S)
Tadbir Bariana
(T)
Julian Barwell
(J)
Joana Batista
(J)
Helen E Baxendale
(HE)
Phil L Beales
(PL)
David L Bennett
(DL)
David R Bentley
(DR)
Agnieszka Bierzynska
(A)
Tina Biss
(T)
Maria A K Bitner-Glindzicz
(MAK)
Graeme C Black
(GC)
Marta Bleda
(M)
Iulia Blesneac
(I)
Detlef Bockenhauer
(D)
Harm Bogaard
(H)
Christian J Bourne
(CJ)
Sara Boyce
(S)
John R Bradley
(JR)
Eugene Bragin
(E)
Gerome Breen
(G)
Paul Brennan
(P)
Carole Brewer
(C)
Matthew Brown
(M)
Andrew C Browning
(AC)
Michael J Browning
(MJ)
Rachel J Buchan
(RJ)
Matthew S Buckland
(MS)
Teofila Bueser
(T)
Carmen Bugarin Diz
(CB)
John Burn
(J)
Siobhan O Burns
(SO)
Oliver S Burren
(OS)
Nigel Burrows
(N)
Paul Calleja
(P)
Carolyn Campbell
(C)
Gerald Carr-White
(G)
Keren Carss
(K)
Ruth Casey
(R)
Mark J Caulfield
(MJ)
Jenny Chambers
(J)
John Chambers
(J)
Melanie M Y Chan
(MMY)
Calvin Cheah
(C)
Floria Cheng
(F)
Patrick F Chinnery
(PF)
Manali Chitre
(M)
Martin T Christian
(MT)
Colin Church
(C)
Jill Clayton-Smith
(J)
Maureen Cleary
(M)
Naomi Clements Brod
(NC)
Gerry Coghlan
(G)
Elizabeth Colby
(E)
Trevor R P Cole
(TRP)
Janine Collins
(J)
Peter W Collins
(PW)
Camilla Colombo
(C)
Cecilia J Compton
(CJ)
Robin Condliffe
(R)
Stuart Cook
(S)
H Terence Cook
(HT)
Nichola Cooper
(N)
Paul A Corris
(PA)
Abigail Furnell
(A)
Fiona Cunningham
(F)
Nicola S Curry
(NS)
Antony J Cutler
(AJ)
Matthew J Daniels
(MJ)
Mehul Dattani
(M)
Louise C Daugherty
(LC)
John Davis
(J)
Anthony De Soyza
(A)
Sri V V Deevi
(SVV)
Timothy Dent
(T)
Charu Deshpande
(C)
Eleanor F Dewhurst
(EF)
Peter H Dixon
(PH)
Sofia Douzgou
(S)
Kate Downes
(K)
Anna M Drazyk
(AM)
Elizabeth Drewe
(E)
Daniel Duarte
(D)
Tina Dutt
(T)
J David M Edgar
(JDM)
Karen Edwards
(K)
William Egner
(W)
Melanie N Ekani
(MN)
Perry Elliott
(P)
Wendy N Erber
(WN)
Marie Erwood
(M)
Maria C Estiu
(MC)
Dafydd Gareth Evans
(DG)
Gillian Evans
(G)
Tamara Everington
(T)
Mélanie Eyries
(M)
Hiva Fassihi
(H)
Remi Favier
(R)
Jack Findhammer
(J)
Debra Fletcher
(D)
Frances A Flinter
(FA)
R Andres Floto
(RA)
Tom Fowler
(T)
James Fox
(J)
Amy J Frary
(AJ)
Courtney E French
(CE)
Kathleen Freson
(K)
Mattia Frontini
(M)
Daniel P Gale
(DP)
Henning Gall
(H)
Vijeya Ganesan
(V)
Michael Gattens
(M)
Claire Geoghegan
(C)
Terence S A Gerighty
(TSA)
Ali G Gharavi
(AG)
Stefano Ghio
(S)
Hossein-Ardeschir Ghofrani
(HA)
J Simon R Gibbs
(JSR)
Kate Gibson
(K)
Kimberly C Gilmour
(KC)
Barbara Girerd
(B)
Nicholas S Gleadall
(NS)
Sarah Goddard
(S)
David B Goldstein
(DB)
Keith Gomez
(K)
Pavels Gordins
(P)
David Gosal
(D)
Stefan Gräf
(S)
Jodie Graham
(J)
Luigi Grassi
(L)
Daniel Greene
(D)
Lynn Greenhalgh
(L)
Andreas Greinacher
(A)
Paolo Gresele
(P)
Philip Griffiths
(P)
Sofia Grigoriadou
(S)
Russell J Grocock
(RJ)
Detelina Grozeva
(D)
Mark Gurnell
(M)
Scott Hackett
(S)
Charaka Hadinnapola
(C)
William M Hague
(WM)
Rosie Hague
(R)
Matthias Haimel
(M)
Matthew Hall
(M)
Helen L Hanson
(HL)
Eshika Haque
(E)
Kirsty Harkness
(K)
Andrew R Harper
(AR)
Claire L Harris
(CL)
Daniel Hart
(D)
Ahamad Hassan
(A)
Grant Hayman
(G)
Alex Henderson
(A)
Archana Herwadkar
(A)
Jonathan Hoffman
(J)
Simon Holden
(S)
Rita Horvath
(R)
Henry Houlden
(H)
Arjan C Houweling
(AC)
Luke S Howard
(LS)
Fengyuan Hu
(F)
Gavin Hudson
(G)
Joseph Hughes
(J)
Aarnoud P Huissoon
(AP)
Marc Humbert
(M)
Sean Humphray
(S)
Sarah Hunter
(S)
Matthew Hurles
(M)
Melita Irving
(M)
Louise Izatt
(L)
Roger James
(R)
Sally A Johnson
(SA)
Stephen Jolles
(S)
Jennifer Jolley
(J)
Dragana Josifova
(D)
Neringa Jurkute
(N)
Tim Karten
(T)
Johannes Karten
(J)
Mary A Kasanicki
(MA)
Hanadi Kazkaz
(H)
Rashid Kazmi
(R)
Peter Kelleher
(P)
Anne M Kelly
(AM)
Wilf Kelsall
(W)
Carly Kempster
(C)
David G Kiely
(DG)
Nathalie Kingston
(N)
Robert Klima
(R)
Nils Koelling
(N)
Myrto Kostadima
(M)
Gabor Kovacs
(G)
Ania Koziell
(A)
Roman Kreuzhuber
(R)
Taco W Kuijpers
(TW)
Ajith Kumar
(A)
Dinakantha Kumararatne
(D)
Manju A Kurian
(MA)
Michael A Laffan
(MA)
Fiona Lalloo
(F)
Michele Lambert
(M)
Hana Lango Allen
(HL)
Allan Lawrie
(A)
D Mark Layton
(DM)
Nick Lench
(N)
Claire Lentaigne
(C)
Tracy Lester
(T)
Adam P Levine
(AP)
Rachel Linger
(R)
Hilary Longhurst
(H)
Lorena E Lorenzo
(LE)
Eleni Louka
(E)
Paul A Lyons
(PA)
Rajiv D Machado
(RD)
Robert V MacKenzie Ross
(RV)
Bella Madan
(B)
Eamonn R Maher
(ER)
Jesmeen Maimaris
(J)
Samantha Malka
(S)
Sarah Mangles
(S)
Rutendo Mapeta
(R)
Kevin J Marchbank
(KJ)
Stephen Marks
(S)
Hugh S Markus
(HS)
Hanns-Ulrich Marschall
(HU)
Andrew Marshall
(A)
Jennifer Martin
(J)
Mary Mathias
(M)
Emma Matthews
(E)
Heather Maxwell
(H)
Paul McAlinden
(P)
Mark I McCarthy
(MI)
Harriet McKinney
(H)
Aoife McMahon
(A)
Stuart Meacham
(S)
Adam J Mead
(AJ)
Ignacio Medina Castello
(IM)
Karyn Megy
(K)
Sarju G Mehta
(SG)
Michel Michaelides
(M)
Carolyn Millar
(C)
Shehla N Mohammed
(SN)
Shahin Moledina
(S)
David Montani
(D)
Anthony T Moore
(AT)
Joannella Morales
(J)
Nicholas W Morrell
(NW)
Monika Mozere
(M)
Keith W Muir
(KW)
Andrew D Mumford
(AD)
Andrea H Nemeth
(AH)
William G Newman
(WG)
Michael Newnham
(M)
Sadia Noorani
(S)
Paquita Nurden
(P)
Jennifer O'Sullivan
(J)
Samya Obaji
(S)
Chris Odhams
(C)
Steven Okoli
(S)
Andrea Olschewski
(A)
Horst Olschewski
(H)
Kai Ren Ong
(KR)
S Helen Oram
(SH)
Elizabeth Ormondroyd
(E)
Willem H Ouwehand
(WH)
Claire Palles
(C)
Sofia Papadia
(S)
Soo-Mi Park
(SM)
David Parry
(D)
Smita Patel
(S)
Joan Paterson
(J)
Andrew Peacock
(A)
Simon H Pearce
(SH)
John Peden
(J)
Kathelijne Peerlinck
(K)
Christopher J Penkett
(CJ)
Joanna Pepke-Zaba
(J)
Romina Petersen
(R)
Clarissa Pilkington
(C)
Kenneth E S Poole
(KES)
Radhika Prathalingam
(R)
Bethan Psaila
(B)
Angela Pyle
(A)
Richard Quinton
(R)
Shamima Rahman
(S)
Stuart Rankin
(S)
Anupama Rao
(A)
F Lucy Raymond
(FL)
Paula J Rayner-Matthews
(PJ)
Christine Rees
(C)
Augusto Rendon
(A)
Tara Renton
(T)
Christopher J Rhodes
(CJ)
Andrew S C Rice
(ASC)
Sylvia Richardson
(S)
Alex Richter
(A)
Leema Robert
(L)
Irene Roberts
(I)
Anthony Rogers
(A)
Sarah J Rose
(SJ)
Robert Ross-Russell
(R)
Catherine Roughley
(C)
Noemi B A Roy
(NBA)
Deborah M Ruddy
(DM)
Omid Sadeghi-Alavijeh
(O)
Moin A Saleem
(MA)
Nilesh Samani
(N)
Crina Samarghitean
(C)
Alba Sanchis-Juan
(A)
Ravishankar B Sargur
(RB)
Robert N Sarkany
(RN)
Simon Satchell
(S)
Sinisa Savic
(S)
John A Sayer
(JA)
Genevieve Sayer
(G)
Laura Scelsi
(L)
Andrew M Schaefer
(AM)
Sol Schulman
(S)
Richard Scott
(R)
Marie Scully
(M)
Claire Searle
(C)
Werner Seeger
(W)
Arjune Sen
(A)
W A Carrock Sewell
(WAC)
Denis Seyres
(D)
Neil Shah
(N)
Olga Shamardina
(O)
Susan E Shapiro
(SE)
Adam C Shaw
(AC)
Patrick J Short
(PJ)
Keith Sibson
(K)
Lucy Side
(L)
Ilenia Simeoni
(I)
Michael A Simpson
(MA)
Matthew C Sims
(MC)
Suthesh Sivapalaratnam
(S)
Damian Smedley
(D)
Katherine R Smith
(KR)
Kenneth G C Smith
(KGC)
Katie Snape
(K)
Nicole Soranzo
(N)
Florent Soubrier
(F)
Laura Southgate
(L)
Olivera Spasic-Boskovic
(O)
Simon Staines
(S)
Emily Staples
(E)
Hannah Stark
(H)
Jonathan Stephens
(J)
Charles Steward
(C)
Kathleen E Stirrups
(KE)
Alex Stuckey
(A)
Jay Suntharalingam
(J)
Emilia M Swietlik
(EM)
Petros Syrris
(P)
R Campbell Tait
(RC)
Kate Talks
(K)
Rhea Y Y Tan
(RYY)
Katie Tate
(K)
John M Taylor
(JM)
Jenny C Taylor
(JC)
James E Thaventhiran
(JE)
Andreas C Themistocleous
(AC)
Ellen Thomas
(E)
David Thomas
(D)
Moira J Thomas
(MJ)
Patrick Thomas
(P)
Kate Thomson
(K)
Adrian J Thrasher
(AJ)
Glen Threadgold
(G)
Chantal Thys
(C)
Tobias Tilly
(T)
Marc Tischkowitz
(M)
Catherine Titterton
(C)
John A Todd
(JA)
Cheng-Hock Toh
(CH)
Bas Tolhuis
(B)
Ian P Tomlinson
(IP)
Mark Toshner
(M)
Matthew Traylor
(M)
Carmen Treacy
(C)
Paul Treadaway
(P)
Richard Trembath
(R)
Salih Tuna
(S)
Wojciech Turek
(W)
Ernest Turro
(E)
Philip Twiss
(P)
Tom Vale
(T)
Chris Van Geet
(CV)
Natalie van Zuydam
(NV)
Maarten Vandekuilen
(M)
Anthony M Vandersteen
(AM)
Marta Vazquez-Lopez
(M)
Julie von Ziegenweidt
(J)
Anton Vonk Noordegraaf
(A)
Annette Wagner
(A)
Quinten Waisfisz
(Q)
Suellen M Walker
(SM)
Neil Walker
(N)
Klaudia Walter
(K)
James S Ware
(JS)
Hugh Watkins
(H)
Christopher Watt
(C)
Andrew R Webster
(AR)
Lucy Wedderburn
(L)
Wei Wei
(W)
Steven B Welch
(SB)
Julie Wessels
(J)
Sarah K Westbury
(SK)
John-Paul Westwood
(JP)
John Wharton
(J)
Deborah Whitehorn
(D)
James Whitworth
(J)
Andrew O M Wilkie
(AOM)
Martin R Wilkins
(MR)
Catherine Williamson
(C)
Brian T Wilson
(BT)
Edwin K S Wong
(EKS)
Nicholas Wood
(N)
Yvette Wood
(Y)
Christopher Geoffrey Woods
(CG)
Emma R Woodward
(ER)
Stephen J Wort
(SJ)
Austen Worth
(A)
Michael Wright
(M)
Katherine Yates
(K)
Patrick F K Yong
(PFK)
Timothy Young
(T)
Ping Yu
(P)
Patrick Yu-Wai-Man
(P)
Eliska Zlamalova
(E)
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