9 research outputs found
The importance of thermal neutron scattering laws in reactor calculations
- Publication venue
- Publication date
- 01/01/1969
- Field of study
Imperial Users onl
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
- Author
- Aarnoud Huissoon
- Abigail Furnell
- Adam Mead
- Adam P. Levine
- Adnan Manzur
- Adrian Thrasher
- Alan Greenhalgh
- Alasdair Parker
- Alba Sanchis-Juan
- Alex Richter
- Alice Gardham
- Allan Lawrie
- Aman Sohal
- Amanda Creaser-Myers
- Amy Frary
- Andreas Greinacher
- Andreas Themistocleous
- Andrew J. Peacock
- Andrew Marshall
- Andrew Mumford
- Andrew Rice
- Andrew Webster
- Andy G. Lynch
- Angie Brady
- Ania Koziell
- Ania Manson
- Anita Chandra
- Anke Hensiek
- Anna Huis in’t Veld
- Anna Maw
- Anne M. Kelly
- Anthony Moore
- Anton Vonk Noordegraaf
- Antony Attwood
- Archana Herwadkar
- Ardi Ghofrani
- Arjan C. Houweling
- Barbara Girerd
- Bruce Furie
- Carmen M. Treacy
- Carolyn M. Millar
- Carrock Sewell
- Catherine Roughley
- Catherine Titterton
- Catherine Williamson
- Charaka Hadinnapola
- Charu Deshpande
- Cheng-Hock Toh
- Chiara Bacchelli
- Chris Patch
- Chris Van Geet
- Christian Babbs
- Christine Bryson
- Christopher J. Penkett
- Christopher J. Rhodes
- Christopher Watt
- Claire Bethune
- Claire Booth
- Claire Lentaigne
- Coleen McJannet
- Colin Church
- Courtney French
- Crina Samarghitean
- Csaba Halmagyi
- Daniel Gale
- Daniel Greene
- Daniel Hart
- David Allsup
- David Bennett
- David Edgar
- David G. Kiely
- David Gosal
- David J. Perry
- David Keeling
- David Montani
- Debbie Shipley
- Deborah Whitehorn
- Debra Fletcher
- Deepa Krishnakumar
- Detelina Grozeva
- Dinakantha Kumararatne
- Dorothy Thompson
- Dragana Josifova
- Eamonn Maher
- Edwin K. S. Wong
- Elaine Murphy
- Eleanor Dewhurst
- Eleni Louka
- Elisabeth Rosser
- Elizabeth Chalmers
- Elizabeth Colby
- Elizabeth Drewe
- Elizabeth McDermott
- Ellen Thomas
- Emily Staples
- Emma Clement
- Emma Matthews
- Emma Wakeling
- Eric Oksenhendler
- Ernest Turro
- Evan Reid
- Evangeline Wassmer
- F. Lucy Raymond
- Fengyuan Hu
- Fiona Kennedy
- Florent Soubrier
- Frances Flinter
- Gabor Kovacs
- Gary Polwarth
- Gautum Ambegaonkar
- Gavin Arno
- Gavin Hudson
- Geoff Woods
- Gerry Coghlan
- Grant Hayman
- Gururaj Arumugakani
- Gwen Schotte
- H. Terry Cook
- Hana Alachkar
- Hana Lango Allen
- Hana Lango-Allen
- Hannah Stark
- Hans Stauss
- Harald Schulze
- Harm J. Boggard
- Helen Baxendale
- Helen Dolling
- Helen Firth
- Henning Gall
- Henry Watson
- Hilary Longhurst
- Hugh S. Markus
- Hugh Watkins
- Ilenia Simeoni
- Ingrid Emmerson
- Irene Roberts
- Isabella Quinti
- Ivy Wanjiku
- J. Simon R. Gibbs
- James H. R. Farmery
- James Thaventhiran
- James Whitworth
- Jane Hurst
- Janine Collins
- Jay Suntharalingam
- Jeanette Payne
- Jecko Thachil
- Jennifer M. Martin
- Jennifer Martin
- Jenny Carmichael
- Jesmeen Maimaris
- Joan Paterson
- Joanna Pepke-Zaba
- Johan W. M. Heemskerk
- Johanna Gebhart
- John Davis
- John Pasi
- John R. Bradley
- John Wharton
- Jonathan Stephens
- Julia Rankin
- Julie Anderson
- Julie Vogt
- Julie von Ziegenweldt
- Karola Rehnstrom
- Karyn Megy
- Kate Talks
- Kathelijne Peerlinck
- Katherine Yates
- Kathleen Freson
- Kathleen Stirrups
- Keith Gomez
- Kenneth G. C. Smith
- Keren Carss
- Kevin Rue-Albrecht
- Kimberley Gilmour
- Larahmie Masati
- Laura Scelsi
- Laura Southgate
- Lavanya Ranganathan
- Lionel Ginsberg
- Lisa Devlin
- Lisa Willcocks
- Liz Ormondroyd
- Lorena Lorenzo
- Lorraine Harper
- Louise Allen
- Louise Daugherty
- Manali Chitre
- Manju Kurian
- Marc Humbert
- Marc Tischkowitz
- Maria Bitner-Glindzicz
- Marie Erwood
- Marie Scully
- Marijke Veltman
- Mark Caulfield
- Mark Layton
- Mark McCarthy
- Mark Ponsford
- Mark Toshner
- Marta Bleda
- Martin Wilkins
- Mary Mathias
- Mary Reilly
- Maryam Afzal
- Matthew Brown
- Matthew Rondina
- Matthew Stubbs
- Matthias Haimel
- Melissa Lees
- Michael A. Laffan
- Michael Browning
- Michael Gattens
- Michael Richards
- Michel Michaelides
- Michele P. Lambert
- Mike L. Smith
- Mike Makris
- Minka De Vries
- Mohamed Mahdi-Rogers
- Moin Saleem
- Moira Thomas
- Muriel Holder
- Mélanie Eyries
- Naomi Clements-Brod
- Natalie Canham
- Natalie Dormand
- Natalie Van Zuydam
- Nathalie Kingston
- Neeti Ghali
- Nichola Cooper
- Nicholas W. Morrell
- Nigel Yeatman
- Noémi Roy
- null null
- Olga Shamardina
- Omid S. Alavijeh
- Paolo Gresele
- Paquita Nurden
- Patrick Chinnery
- Patrick Deegan
- Patrick Yong
- Patrick Yu-Wai-Man
- Paul A. Corris
- Paul Calleja
- Paul Gissen
- Paula Bolton-Maggs
- Paula Rayner-Matthews
- Pavandeep K. Ghataorhe
- Pavel Gordins
- Penelope Stein
- Peter Collins
- Peter Dixon
- Peter Kelleher
- Phil Ancliff
- Ping Yu
- R. Campbell Tait
- Rachel Linger
- Rainer Doffinger
- Rajiv Machado
- Rashid Kazmi
- Ravishankar Sargur
- Remi Favier
- Rhea Tan
- Ri Liesner
- Richard Antrobus
- Richard Sandford
- Richard Scott
- Richard Trembath
- Rita Horvath
- Rob Hadden
- Rob V. MackenzieRoss
- Robert Henderson
- Robert MacLaren
- Roger James
- Rohit Ghurye
- Rosa DaCosta
- Rosie Hague
- Rutendo Mapeta
- Ruth Armstrong
- Sadia Noorani
- Sai Murng
- Saikat Santra
- Salih Tuna
- Sally Johnson
- Sam Chong
- Sara Lear
- Sara Walker
- Sarah Goddard
- Sarah Mangles
- Sarah Westbury
- Sarju Mehta
- Scott Hackett
- Sergey Nejentsev
- Shahin Moledina
- Shahnaz Bibi
- Sharon Meehan
- Shokri Othman
- Shoshana Revel-Vilk
- Simon Holden
- Simon McGowan
- Simon Staines
- Sinisa Savic
- Siobhan Burns
- Sofia Grigoriadou
- Sofia Papadia
- Sofie Ashford
- Sol Schulman
- Sonia Ali
- Soo-Mi Park
- Sophie Davies
- Sophie Stock
- Souad Ali
- Sri V. V. Deevi
- Stefan Gräf
- Stefano Ghio
- Stephen J. Wort
- Stephen Jolles
- Steve Austin
- Steve Welch
- Stuart Meacham
- Stuart Rankin
- Suellen Walker
- Suranjith Seneviratne
- Susan Holder
- Suthesh Sivapalaratnam
- Sylvia Richardson
- Taco Kuijpers
- Taco W. Kuijpers
- Tadbir K. Bariana
- Tamam Bakchoul
- Tamara Everington
- Tara Renton
- Tim Young
- Timothy Aitman
- Timothy Q. Warner
- Tom Vale
- Tracey Hammerton
- Val Pollock
- Vera Matser
- Victoria Cookson
- Virginia Clowes
- Waseem Qasim
- Wei Wei
- Wendy N. Erber
- Willem H. Ouwehand
- William Astle
- William Egner
- Wojciech Turek
- Yvonne Henskens
- Yvonne Tan
- Publication venue
- Sci Rep
- Publication date
- 01/01/2018
- Field of study
Telomere length is a risk factor in disease and the dynamics of telomere length are crucial to our understanding of cell replication and vitality. The proliferation of whole genome sequencing represents an unprecedented opportunity to glean new insights into telomere biology on a previously unimaginable scale. To this end, a number of approaches for estimating telomere length from whole-genome sequencing data have been proposed. Here we present Telomerecat, a novel approach to the estimation of telomere length. Previous methods have been dependent on the number of telomeres present in a cell being known, which may be problematic when analysing aneuploid cancer data and non-human samples. Telomerecat is designed to be agnostic to the number of telomeres present, making it suited for the purpose of estimating telomere length in cancer studies. Telomerecat also accounts for interstitial telomeric reads and presents a novel approach to dealing with sequencing errors. We show that Telomerecat performs well at telomere length estimation when compared to leading experimental and computational methods. Furthermore, we show that it detects expected patterns in longitudinal data, repeated measurements, and cross-species comparisons. We also apply the method to a cancer cell data, uncovering an interesting relationship with the underlying telomerase genotype
Publisher Correction: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.
- Author
- Afzal Maryam
- Aitman Timothy
- Alachkar Hana
- Alavijeh Omid S
- Ali Sonia
- Ali Souad
- Allen Hana Lango
- Allen Louise
- Allsup David
- Ambegaonkar Gautum
- Ancliff Phil
- Anderson Julie
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Babbs Christian
- Bacchelli Chiara
- Bakchoul Tamam
- Bariana Tadbir K
- Baxendale Helen
- Bennett David
- Bethune Claire
- Bibi Shahnaz
- Bitner-Glindzicz Maria
- Bleda Marta
- Boggard Harm J
- Bolton-Maggs Paula
- Booth Claire
- Bradley John R
- Brady Angie
- Brown Matthew
- Browning Michael
- Bryson Christine
- Burns Siobhan
- Calleja Paul
- Canham Natalie
- Carmichael Jenny
- Carss Keren
- Caulfield Mark
- Chalmers Elizabeth
- Chandra Anita
- Chinnery Patrick
- Chitre Manali
- Chong Sam
- Church Colin
- Clement Emma
- Clements-Brod Naomi
- Clowes Virginia
- Coghlan Gerry
- Colby Elizabeth
- Collins Janine
- Collins Peter
- Cook H Terry
- Cookson Victoria
- Cooper Nichola
- Corris Paul A
- Creaser-Myers Amanda
- DaCosta Rosa
- Daugherty Louise
- Davies Sophie
- Davis John
- De Vries Minka
- Deegan Patrick
- Deevi Sri VV
- Deshpande Charu
- Devlin Lisa
- Dewhurst Eleanor
- Dixon Peter
- Doffinger Rainer
- Dolling Helen
- Dormand Natalie
- Drewe Elizabeth
- Edgar David
- Egner William
- Emmerson Ingrid
- Erber Wendy N
- Erwood Marie
- Everington Tamara
- Eyries Melanie
- Farmery James HR
- Favier Remi
- Firth Helen
- Fletcher Debra
- Flinter Frances
- Frary Amy
- French Courtney
- Freson Kathleen
- Furie Bruce
- Furnell Abigail
- Gale Daniel
- Gall Henning
- Gardham Alice
- Gattens Michael
- Gebhart Johanna
- Ghali Neeti
- Ghataorhe Pavandeep K
- Ghio Stefano
- Ghofrani Ardi
- Ghurye Rohit
- Gibbs J Simon R
- Gilmour Kimberley
- Ginsberg Lionel
- Girerd Barbara
- Gissen Paul
- Goddard Sarah
- Gomez Keith
- Gordins Pavel
- Gosal David
- Graf Stefan
- Greene Daniel
- Greenhalgh Alan
- Greinacher Andreas
- Gresele Paolo
- Grigoriadou Sofia
- Grozeva Detelina
- Hackett Scott
- Hadden Rob
- Hadinnapola Charaka
- Hague Rosie
- Haimel Matthias
- Halmagyi Csaba
- Hammerton Tracey
- Harper Lorraine
- Hart Daniel
- Hayman Grant
- Heemskerk Johan WM
- Henderson Robert
- Hensiek Anke
- Henskens Yvonne
- Herwadkar Archana
- Holden Simon
- Holder Muriel
- Holder Susan
- Horvath Rita
- Houweling Arjan C
- Hu Fengyuan
- Hudson Gavin
- Huissoon Aarnoud
- Humbert Marc
- Hurst Jane
- in't Veld Anna Huis
- James Roger
- Johnson Sally
- Jolles Stephen
- Josifova Dragana
- Kazmi Rashid
- Keeling David
- Kelleher Peter
- Kelly Anne M
- Kennedy Fiona
- Kiely David G
- Kingston Nathalie
- Kovacs Gabor
- Koziell Ania
- Krishnakumar Deepa
- Kuijpers Taco
- Kuijpers Taco W
- Kumararatne Dinakantha
- Kurian Manju
- Laffan Michael A
- Lambert Michele P
- Lango-Allen Hana
- Lawrie Allan
- Layton Mark
- Lear Sara
- Lees Melissa
- Lentaigne Claire
- Levine Adam P
- Liesner Ri
- Linger Rachel
- Longhurst Hilary
- Lorenzo Lorena
- Louka Eleni
- Lynch Andy G
- Machado Rajiv
- MackenzieRoss Rob V
- MacLaren Robert
- Mahdi-Rogers Mohamed
- Maher Eamonn
- Maimaris Jesmeen
- Makris Mike
- Mangles Sarah
- Manson Ania
- Manzur Adnan
- Mapeta Rutendo
- Markus Hugh S
- Marshall Andrew
- Martin Jennifer
- Martin Jennifer M
- Masati Larahmie
- Mathias Mary
- Matser Vera
- Matthews Emma
- Maw Anna
- McCarthy Mark
- McDermott Elizabeth
- McGowan Simon
- McJannet Coleen
- Meacham Stuart
- Mead Adam
- Meehan Sharon
- Megy Karyn
- Mehta Sarju
- Michaelides Michel
- Millar Carolyn M
- Moledina Shahin
- Montani David
- Moore Anthony
- Morrell Nicholas W
- Mumford Andrew
- Murng Sai
- Murphy Elaine
- Nejentsev Sergey
- Noorani Sadia
- Noordegraaf Anton Vonk
- Nurden Paquita
- Oksenhendler Eric
- Ormondroyd Liz
- Othman Shokri
- Ouwehand Willem H
- Papadia Sofia
- Park Soo-Mi
- Parker Alasdair
- Pasi John
- Patch Chris
- Paterson Joan
- Payne Jeanette
- Peacock Andrew J
- Peerlinck Kathelijne
- Penkett Christopher J
- Pepke-Zaba Joanna
- Perry David J
- Pollock Val
- Polwarth Gary
- Ponsford Mark
- Qasim Waseem
- Quinti Isabella
- Ranganathan Lavanya
- Rankin Julia
- Rankin Stuart
- Raymond F Lucy
- Rayner-Matthews Paula
- Rehnstrom Karola
- Reid Evan
- Reilly Mary
- Renton Tara
- Revel-Vilk Shoshana
- Rhodes Christopher J
- Rice Andrew
- Richards Michael
- Richardson Sylvia
- Richter Alex
- Roberts Irene
- Rondina Matthew
- Rosser Elisabeth
- Roughley Catherine
- Roy Noemi
- Rue-Albrecht Kevin
- Saleem Moin
- Samarghitean Crina
- Sanchis-Juan Alba
- Sandford Richard
- Santra Saikat
- Sargur Ravishankar
- Savic Sinisa
- Scelsi Laura
- Schotte Gwen
- Schulman Sol
- Schulze Harald
- Scott Richard
- Scully Marie
- Seneviratne Suranjith
- Sewell Carrock
- Shamardina Olga
- Shipley Debbie
- Simeoni Ilenia
- Sivapalaratnam Suthesh
- Smith Kenneth GC
- Smith Mike L
- Sohal Aman
- Soubrier Florent
- Southgate Laura
- Staines Simon
- Staples Emily
- Stark Hannah
- Stauss Hans
- Stein Penelope
- Stephens Jonathan
- Stirrups Kathleen
- Stock Sophie
- Stubbs Matthew
- Suntharalingam Jay
- Tait R Campbell
- Talks Kate
- Tan Rhea
- Tan Yvonne
- Thachil Jecko
- Thaventhiran James
- Themistocleous Andreas
- Thomas Ellen
- Thomas Moira
- Thompson Dorothy
- Thrasher Adrian
- Tischkowitz Marc
- Titterton Catherine
- Toh Cheng-Hock
- Toshner Mark
- Treacy Carmen M
- Trembath Richard
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Vale Tom
- Van Geet Chris
- Van Zuydam Natalie
- Veltman Marijke
- Vogt Julie
- von Ziegenweldt Julie
- Wakeling Emma
- Walker Sara
- Walker Suellen
- Wanjiku Ivy
- Warner Timothy Q
- Wassmer Evangeline
- Watkins Hugh
- Watson Henry
- Watt Christopher
- Webster Andrew
- Wei Wei
- Welch Steve
- Westbury Sarah
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Wilkins Martin
- Willcocks Lisa
- Williamson Catherine
- Wong Edwin KS
- Woods Geoff
- Wort Stephen J
- Yates Katherine
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Yu-Wai-Man Patrick
- Publication venue
- Sci Rep
- Publication date
- 01/01/2018
- Field of study
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper
Quellenverzeichnis
- Author
- Abulafia David
- Adloff Mau
- Ahmad Salahuddin
- Akerman James R
- Albion
- Albion
- Alexander Caroline
- Allan David
- Allen Robert C
- Allen Robert C
- Allen Robert C
- Alston William P
- Amery Garvin
- Anderson Benedict
- Anderson Bern
- Angster Julia
- Appleby Joyce
- Arendt Hannah
- Armitage David
- Arneil Barbara
- Asdaile Charles
- Attman A.
- Austin K.
- Bachmann-Medick Doris
- Bagchi
- Bagrow Leo
- Baker
- Baker John H
- Baker John H
- Banks R. E. R.
- Banner Stuart
- Banner Stuart
- Banner Stuart
- Barber Lynn
- Barker Alan H
- Barker Dennis
- Barley Nigel
- Barlow Cleve
- Barnett Correlli
- Barrow Ian J
- Barrow Terence
- Barth Osterhammel
- Bartlett
- Bartlett
- Bartlett
- Bastable Marshall J
- Bastian Adolf
- Bastin
- Bastin
- Bastin
- Bastin John Sturges
- Baugh Daniel A
- Baugh Daniel A
- Bauman Zygmunt
- Baumgart Winfried
- Baumgart Winfried
- Baumgart Winfried
- Bayly
- Bayly C. A.
- Bayly C. A.
- Bayly C. A.
- Bayly C. A.
- Bayly C. A.
- Bayly Susan
- Baynham Henry
- Beaglehole John C
- Beaglehole John C
- Beastall T. W.
- Beck Ryden
- Bell
- Bellamy Richard
- Bennett J.
- Bentley Michael
- Bentley Michael
- Bentley Michael
- Benton Lauren
- Benton Lauren
- Beretta Marco
- Berger Peter L
- Berkeley George
- Berkely George
- Berking Helmuth
- Bernard H.
- Bernstein George
- Berton Pierre
- Berton Pierre
- Beyrau Hochgeschwender
- Bitterli Urs
- Black Clinton V
- Black Jeremy
- Black Jeremy
- Black Jeremy
- Black Jeremy
- Blanning T.C.W.
- Blasius
- Blunt Linnaeus
- Bonnemains J.
- Borroughs Peter
- Bosbach Hiery
- Boulger D.C.
- Bourne Kenneth
- Bourne Palmerston
- Bowler Peter J
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- Brown Janet
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- Bryson Bill
- Bryson Bill
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- Burney James
- Burroughs Peter
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- Burton Antoinette
- Butterfield Herbert
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- Caddy John F
- Cain P. J.
- Calliess
- Cameron Ian
- Campbell A. B.
- Carew Anthony
- Carey Peter
- Carey Peter
- Carter Harold B
- Carter Paul
- Cassirer E.
- Cawthorne Nigel
- Chakrabarty Dipesh
- Challis R. L.
- Chamberlain Muriel
- Chamberlain Muriel E
- Chambers Palmerston
- Chandler David P
- Chapman
- Charlesworth Neil
- Chaudhuri
- Clark
- Clark
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- Clark Ronald W
- Claver Scott
- Clayden McBride
- Clowes
- Coad Jonathan G
- Coleman Bruce
- Colley Britons
- Colley Britons
- Conrad Christoph
- Conrad Conrad
- Conrad Eckert
- Conrad Randeria
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- Conze Eckart
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- Cooper Stoler
- Cordingly David
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- Dahrendorf Ralf
- Dankelmann Otfried
- Davidson
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- Deleuze Guattari
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- Dening Greg
- Dening Greg
- Dennett Daniel C
- Denzin Norman K
- Dickinson Harry T
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- Dietz Bettina
- Doel Marcus
- Doering-Manteuffel Anselm
- Doering-Manteuffel Anselm
- Dorling Henry T
- Douaire-Marsaudon Francoise
- Downs David Stea
- Drayton Richard
- Drescher Seymor
- Driver Felix
- Duchhardt Heinz
- Duerr Traumzeit
- Duffy Michael
- Dupree A. H.
- Dupree A. H.
- Dwyer Philip G
- Döring Jörg
- Dünne Stephan Günzel
- Earle Peter
- Eastwood David
- Eccleshall Robert
- Eckert Andreas
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- Eisenstadt
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- Estensen Miriam
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- Fayle C.
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- Fleck Ludwik
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- Flinders Tim
- Flournoy
- Fohrmann Jürgen
- Foucault Michel
- Foucault Michel
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- Foucault Michel
- Foucault Michel
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- Fraenkel Ernst
- Francis Mark
- Frank A. G.
- Freilich Morris
- Frevert Haupt
- Friendly Alfred
- Friis Herman
- Frost Samson
- Fry Howard T
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- Frykenberg
- Frykenberg Robert Eric
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- Gates David
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- Glete Jan
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- Goldman Lawrence
- Goldsmith Donald
- Gollwitzer Heinz
- Gosset William P
- Gottmann Jean
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- Oliver Douglas
- Omerod Henry
- Osterhammel Jürgen
- Osterhammel Jürgen
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- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Jürgen
- Osterhammel Petersson
- Overton Campbell
- Oxford Dictionary of National Biography.
- Pack A. J.
- Padfield Peter
- Padfield Peter
- Pagden Anthony
- Parkinson C. Northcote
- Parris Henry
- Parry John H
- Parry John H
- Paulmann Johannes
- Penny H.
- Penny H.
- Perkin
- Petermann Werner
- Petersson Niels P
- Philips C. H.
- Phillipson David
- Pietschmann Horst
- Pinkney D.
- Pittock
- Pitts Jenniffer
- Pocock Tom
- Pollock Maitland
- Ponting Clive
- Pool Ian
- Porter Andrew
- Porter Andrew
- Porter Andrew
- Porter Andrew
- Porter Andrew N
- Porter Bernard
- Porter Enlightenment
- Porter Roy
- Powell David
- Pratt Michael
- Prest John M
- Preston Antony
- Preston Antony
- Pugh Martin
- Ramsden John
- Ransome-Wallis Cosnett
- Raphael Lutz
- Raphael Lutz
- Raphael Lutz
- Rasor Eugene L
- Rasor Eugene L
- Rasor Eugene L
- Raymond Joad
- Rediker Marcus
- Reilly Michael
- Reinhard Wolfgang
- Rice Anthony L
- Richardson Bogart
- Richmond H. W.
- Rigby Nigel
- Rippon Peter M
- Ritchie G. S.
- Ritchie Robert C
- Robbins Keith
- Robinson Howard
- Robinson Jane
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- Rodger N. A. M.
- Rohe Karl
- Roscoe
- Roskill Stephen
- Rubin Alfred P
- Rudwick
- Ruggles Richard J
- Ruoff Michael
- Russell C.
- Sack
- Sack
- Said Edward W
- Said Edward W
- Sainsbury Antony B
- Sainty J. C.
- Salewski Michael
- Sarazin Philipp
- Sartori Andrew
- Savours Ann
- Schirrmacher Arne
- Schluchter Wolfgang
- Schlögel Karl
- Schmidt Gustav
- Schneer Cecil J
- Schneider Ute
- Schofield R.
- Schorn-Schütte Luise
- Schröder Höhler
- Schwartz Stuart
- Schwerhoff Gerd
- Scott Ernest
- Scott James C
- Scott James C
- Seeley
- Seeley
- Semmel Bernard
- Shaw-Taylor L.
- Sheets-Pyenson Susan
- Sheppard Eric
- Sherwood Marika
- Shiel Robert S
- Shrubb R. E. A.
- Shulman
- Siegrist Sugarman
- Simpson Donald
- Skelton
- Syrett DiNardo
- Publication venue
- 'Vandenhoeck & Ruprecht GmbH & Co, KG'
- Publication date
- Field of study
Whole-genome sequencing of patients with rare diseases in a national health system
- Author
- Abbs Stephen
- Abulhoul Lara
- Adlard Julian
- Ahmed Munaza
- Aitman Timothy J.
- Aitman Timothy J.
- Alachkar Hana
- Allen Hana Lango
- Allen Hana Lango
- Allsup David J.
- Almeida-King Jeff
- Ancliff Philip
- Antrobus Richard
- Armstrong Ruth
- Arno Gavin
- Ashford Sofie
- Ashford Sofie
- Astle William J.
- Astle William J.
- Attwood Anthony
- Aurora Paul
- Babbs Christian
- Bacchelli Chiara
- Bakchoul Tamam
- Banka Siddharth
- Bariana Tadbir
- Barwell Julian
- Batista Joana
- Baxendale Helen E.
- Beales Phil L.
- Bennett David L.
- Bennett David L.
- Bentley David R.
- Bentley David R.
- Bierzynska Agnieszka
- Biss Tina
- Bitner-Glindzicz Maria A.K.
- Black Graeme C.
- Bleda Marta
- Blesneac Iulia
- Bockenhauer Detlef
- Bogaard Harm
- Bourne Christian J.
- Boyce Sara
- Bradley John R.
- Bradley John R.
- Bragin Eugene
- Breen Gerome
- Brennan Paul
- Brewer Carole
- Brod Naomi Clements
- Brown Matthew
- Browning Andrew C.
- Browning Michael J.
- Buchan Rachel J.
- Buckland Matthew S.
- Bueser Teofila
- Burn John
- Burns Siobhan O.
- Burren Oliver S.
- Burren Oliver S.
- Burrows Nigel
- Calleja Paul
- Calleja Paul
- Campbell Carolyn
- Carr-White Gerald
- Carss Keren
- Carss Keren
- Casey Ruth
- Castello Ignacio Medina
- Caulfield Mark J.
- Caulfield Mark J.
- Chambers Jenny
- Chambers John
- Chan Melanie M.Y.
- Cheah Calvin
- Cheng Floria
- Chinnery Patrick F.
- Chinnery Patrick F.
- Chitre Manali
- Christian Martin T.
- Church Colin
- Clayton-Smith Jill
- Cleary Maureen
- Coghlan Gerry
- Colby Elizabeth
- Cole Trevor R.P.
- Collins Janine
- Collins Peter W.
- Colombo Camilla
- Compton Cecilia J.
- Condliffe Robin
- Cook H. Terence
- Cook Stuart
- Cooper Nichola
- Corris Paul A A.
- Cunningham Fiona
- Curry Nicola S.
- Cutler Antony J.
- Daniels Matthew J.
- Dattani Mehul
- Daugherty Louise C.
- Davis John
- De Soyza Anthony
- Deevi Sri V.V.
- Deevi Sri V.V.
- Dent Timothy
- Deshpande Charu
- Dewhurst Eleanor F.
- Dixon Peter H.
- Dixon Peter H.
- Diz Carmen Bugarin
- Douzgou Sofia
- Downes Kate
- Downes Kate
- Drazyk Anna M.
- Drewe Elizabeth
- Duarte Daniel
- Dutt Tina
- Edgar J. David M.
- Edwards Karen
- Egner William
- Ekani Melanie N.
- Elliott Perry
- Erber Wendy N.
- Erwood Marie
- Estiu Maria C.
- Evans Dafydd Gareth
- Evans Gillian
- Everington Tamara
- Eyries Mélanie
- Fassihi Hiva
- Favier Remi
- Findhammer Jack
- Fletcher Debra
- Flinter Frances A.
- Floto R. Andres
- Fowler Tom
- Fox James
- Frary Amy J.
- French Courtney E.
- Freson Kathleen
- Freson Kathleen
- Frontini Mattia
- Frontini Mattia
- Furnell Abigail
- Gale Daniel P.
- Gale Daniel P.
- Gall Henning
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- Gattens Michael
- Geet Chris Van
- Geoghegan Claire
- Gerighty Terence S.A.
- Gharavi Ali G.
- Ghio Stefano
- Ghofrani Hossein Ardeschir
- Gibbs J. Simon R.
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- Gilmour Kimberly C.
- Girerd Barbara
- Gleadall Nicholas S.
- Goddard Sarah
- Goldstein David B.
- Gomez Keith
- Gordins Pavels
- Gosal David
- Graham Jodie
- Grassi Luigi
- Greene Daniel
- Greene Daniel
- Greenhalgh Lynn
- Greinacher Andreas
- Gresele Paolo
- Griffiths Philip
- Grigoriadou Sofia
- Grocock Russell J.
- Grozeva Detelina
- Gräf Stefan
- Gräf Stefan
- Gurnell Mark
- Hackett Scott
- Hadinnapola Charaka
- Hague Rosie
- Hague William M.
- Haimel Matthias
- Haimel Matthias
- Hall Matthew
- Hanson Helen L.
- Haque Eshika
- Harkness Kirsty
- Harper Andrew R.
- Harris Claire L L.
- Hart Daniel
- Hassan Ahamad
- Hayman Grant
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- Herwadkar Archana
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- Holden Simon
- Horvath Rita
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- Hu Fengyuan
- Hudson Gavin
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- Huissoon Aarnoud P.
- Humbert Marc
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- Humphray Sean
- Hunter Sarah
- Hurles Matthew
- Irving Melita
- Izatt Louise
- James Roger
- James Roger
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- Josifova Dragana
- Jurkute Neringa
- Karten Johannes
- Karten Tim
- Kasanicki Mary A.
- Kazkaz Hanadi
- Kazmi Rashid
- Kelleher Peter
- Kelly Anne M.
- Kelsall Wilf
- Kempster Carly
- Kiely David G.
- Kingston Nathalie
- Kingston Nathalie
- Klima Robert
- Koelling Nils
- Kostadima Myrto
- Kovacs Gabor
- Koziell Ania
- Koziell Ania
- Kreuzhuber Roman
- Kuijpers Taco W.
- Kumar Ajith
- Kumararatne Dinakantha
- Kurian Manju A.
- Laffan Michael A.
- Laffan Michael A.
- Lalloo Fiona
- Lambert Michele
- Lawrie Allan
- Layton D. Mark
- Lench Nick
- Lentaigne Claire
- Lester Tracy
- Levine Adam P.
- Levine Adam P.
- Linger Rachel
- Longhurst Hilary
- Lorenzo Lorena E.
- Louka Eleni
- Lyons Paul A.
- Machado Rajiv D.
- MacKenzie Ross Robert V.
- Madan Bella
- Maher Eamonn R.
- Maher Eamonn R.
- Maimaris Jesmeen
- Malka Samantha
- Mangles Sarah
- Mapeta Rutendo
- Mapeta Rutendo
- Marchbank Kevin J.
- Marks Stephen
- Markus Hugh S.
- Markus Hugh S.
- Marschall Hanns Ulrich
- Marshall Andrew
- Martin Jennifer
- Mathias Mary
- Matthews Emma
- Maxwell Heather
- McAlinden Paul
- McCarthy Mark I.
- McKinney Harriet
- McMahon Aoife
- Meacham Stuart
- Mead Adam J.
- Megy Karyn
- Megy Karyn
- Mehta Sarju G G.
- Michaelides Michel
- Millar Carolyn
- Mohammed Shehla N.
- Moledina Shahin
- Montani David
- Moore Anthony T.
- Morales Joannella
- Morales Joannella
- Morrell Nicholas W.
- Morrell Nicholas W.
- Mozere Monika
- Muir Keith W.
- Mumford Andrew D.
- Mumford Andrew D.
- Nemeth Andrea H.
- Newman William G.
- Newnham Michael
- Noorani Sadia
- Nurden Paquita
- Obaji Samya
- Odhams Chris
- Okoli Steven
- Olschewski Andrea
- Olschewski Horst
- Ong Kai Ren
- Oram S. Helen
- Ormondroyd Elizabeth
- Ormondroyd Elizabeth
- Ouwehand Willem H.
- Ouwehand Willem H.
- O’Sullivan Jennifer
- Palles Claire
- Papadia Sofia
- Park Soo Mi
- Parry David
- Patel Smita
- Paterson Joan
- Peacock Andrew
- Pearce Simon H H.
- Peden John
- Peerlinck Kathelijne
- Penkett Christopher J.
- Penkett Christopher J.
- Pepke-Zaba Joanna
- Petersen Romina
- Pilkington Clarissa
- Poole Kenneth E.S.
- Prathalingam Radhika
- Psaila Bethan
- Pyle Angela
- Quinton Richard
- Rahman Shamima
- Rankin Stuart
- Rankin Stuart
- Rao Anupama
- Raymond F. Lucy
- Raymond F. Lucy
- Rayner-Matthews Paula J.
- Rees Christine
- Rendon Augusto
- Rendon Augusto
- Renton Tara
- Rhodes Christopher J.
- Rice Andrew S.C.
- Richardson Sylvia
- Richardson Sylvia
- Richter Alex
- Robert Leema
- Roberts Irene
- Roberts Irene
- Rogers Anthony
- Rose Sarah J.
- Ross-Russell Robert
- Roughley Catherine
- Roy Noemi B.A.
- Roy Noemi B. A
- Ruddy Deborah M.
- Sadeghi-Alavijeh Omid
- Saleem Moin A.
- Saleem Moin A.
- Samani Nilesh
- Samarghitean Crina
- Sanchis-Juan Alba
- Sanchis-Juan Alba
- Sargur Ravishankar B.
- Sarkany Robert N.
- Satchell Simon
- Savic Sinisa
- Sayer Genevieve
- Sayer John A.
- Scelsi Laura
- Schaefer Andrew M.
- Schulman Sol
- Scott Richard
- Scully Marie
- Searle Claire
- Seeger Werner
- Sen Arjune
- Sewell W. A.Carrock
- Seyres Denis
- Shah Neil
- Shamardina Olga
- Shamardina Olga
- Shapiro Susan E.
- Shaw Adam C.
- Short Patrick J.
- Sibson Keith
- Side Lucy
- Simeoni Ilenia
- Simpson Michael A A.
- Sims Matthew C.
- Sivapalaratnam Suthesh
- Smedley Damian
- Smith Katherine R.
- Smith Kenneth G.C.
- Smith Kenneth G.C.
- Snape Katie
- Soranzo Nicole
- Soubrier Florent
- Southgate Laura
- Spasic-Boskovic Olivera
- Staines Simon
- Staples Emily
- Stark Hannah
- Stark Hannah
- Stephens Jonathan
- Stephens Jonathan
- Steward Charles
- Stirrups Kathleen E.
- Stirrups Kathleen E.
- Stuckey Alex
- Suntharalingam Jay
- Swietlik Emilia M.
- Syrris Petros
- Tait R. Campbell
- Talks Kate
- Tan Rhea Y.Y.
- Tan Rhea Y.Y.
- Tate Katie
- Taylor Jenny C.
- Taylor John M.
- Thaventhiran James E.
- Themistocleous Andreas C.
- Themistocleous Andreas C.
- Thomas David
- Thomas Ellen
- Thomas Moira J.
- Thomas Patrick
- Thomson Kate
- Thrasher Adrian J.
- Thrasher Adrian J.
- Threadgold Glen
- Thys Chantal
- Thys Chantal
- Tilly Tobias
- Tischkowitz Marc
- Titterton Catherine
- Todd John A.
- Toh Cheng Hock
- Tolhuis Bas
- Tomlinson Ian P.
- Toshner Mark
- Traylor Matthew
- Treacy Carmen
- Treadaway Paul
- Trembath Richard
- Tuna Salih
- Tuna Salih
- Turek Wojciech
- Turro Ernest
- Turro Ernest
- Twiss Philip
- Vale Tom
- Vandekuilen Maarten
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- von Ziegenweidt Julie
- Vonk Noordegraaf Anton
- Wagner Annette
- Waisfisz Quinten
- Walker Neil
- Walker Neil
- Walker Suellen M.
- Walter Klaudia
- Ware James S.
- Watkins Hugh
- Watkins Hugh
- Watt Christopher
- Webster Andrew R.
- Webster Andrew R.
- Wedderburn Lucy
- Wei Wei
- Welch Steven B.
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Whitworth James
- Wilkie Andrew O. M
- Wilkins Martin R.
- Wilkins Martin R.
- Williamson Catherine
- Williamson Catherine
- Wilson Brian T.
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R R.
- Wort Stephen J.
- Worth Austen
- Wright Michael
- Yates Katherine
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zlamalova Eliska
- Zuydam Natalie van
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/07/2020
- Field of study
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 discovered1. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of the 7,065 extensively phenotyped participants. We identified 95 Mendelian associations between genes and rare diseases, of which 11 have been discovered since 2015 and at least 79 are confirmed to be aetiological. By generating WGS data of UK Biobank participants2, we found that rare alleles can explain the presence of some individuals in the tails of a quantitative trait for red blood cells. Finally, we identified four novel non-coding variants that cause disease through the disruption of transcription of ARPC1B, GATA1, LRBA and MPL. Our study demonstrates a synergy by using WGS for diagnosis and aetiological discovery in routine healthcare
Fazit
- Author
- Abulafia David
- Adloff Mau
- Ahmad Salahuddin
- Akerman James R
- Albion
- Albion
- Alexander Caroline
- Alfred Thayer Mahan
- Allan David
- Allen Robert C
- Allen Robert C
- Allen Robert C
- Alston William P
- Amery Garvin
- Andaya Barbara
- Anderson Benedict
- Anderson Bern
- Angster Julia
- Appleby Joyce
- Arendt Hannah
- Armitage David
- Armitage David
- Arneil Barbara
- Arneil Barbara
- Asdaile Charles
- Attman A.
- Austin K.
- Bachmann-Medick Doris
- Bagchi
- Bagehot Walter
- Bagrow Leo
- Baker
- Baker John H
- Baker John H
- Banks R. E. R.
- Banner Stuart
- Banner Stuart
- Banner Stuart
- Banner Stuart
- Banner Stuart
- Barber Lynn
- Barker Alan H
- Barker Dennis
- Barley Nigel
- Barlow Cleve
- Barnard Alan
- Barnett Correlli
- Barrow Ian J
- Barrow Terence
- Barth Osterhammel
- Bartlett
- Bartlett
- Bartlett
- Bastable Marshall J
- Bastian Adolf
- Bastin
- Bastin
- Bastin
- Bastin John Sturges
- Baugh Daniel A
- Baugh Daniel A
- Bauman
- Bauman Zygmunt
- Baumgart Winfried
- Baumgart Winfried
- Baumgart Winfried
- Bayly
- Bayly C. A.
- Bayly C. A.
- Bayly C. A.
- Bayly C. A.
- Bayly Susan
- Baynham Henry
- Beaglehole John C
- Beaglehole John C
- Beastall T. W.
- Beck Ryden
- Bell
- Bellamy Richard
- Bennett J.
- Bentley Michael
- Bentley Michael
- Bentley Michael
- Benton Lauren
- Benton Lauren
- Benton Lauren
- Beretta Marco
- Berger Peter L
- Berkeley George
- Berkely George
- Berking Helmuth
- Bernard H.
- Bernstein George
- Berton Pierre
- Berton Pierre
- Beyrau Hochgeschwender
- Bitterli Urs
- Black Clinton V
- Black Jeremy
- Black Jeremy
- Black Jeremy
- Black Jeremy
- Blanning T.C.W.
- Blasius
- Blunt Linnaeus
- Boas Hall Marie
- Bonnemains J.
- Borroughs Peter
- Bosbach Hiery
- Boulger D.C.
- Bourke Richard
- Bourne Kenneth
- Bourne Palmerston
- Bowler Peter J
- Boyd C.
- Brading David A
- Brandes Karl
- Bravo Michael
- Brendecke Arndt
- Brice Martin H
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- Bridge Fedorowich
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- Briggs Asa
- Briggs J. H.
- Broich Ulrich
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- Brown Janet
- Brown R.
- Brown Richard D
- Bryson Bill
- Bryson Bill
- Bublitz Hannelore
- Buck A.R.
- Buck Sir Peter H
- Budde
- Bullen Roger
- Burney James
- Burroughs Peter
- Burt
- Burton Antoinette
- Butterfield Herbert
- Byrn John D
- Caddy John F
- Cain P. J.
- Cain Peter
- Calliess
- Cameron Ian
- Campbell A. B.
- Carew Anthony
- Carey Peter
- Carey Peter
- Carter Harold B
- Carter Paul
- Cassirer E.
- Cawthorne Nigel
- Chakrabarty Dipesh
- Chakrabarty Dipesh
- Chakravarti Gautam
- Challis R. L.
- Chamberlain Muriel
- Chamberlain Muriel E
- Chambers Palmerston
- Chandler David P
- Chapman
- Charles Lyell
- Charlesworth Neil
- Chaudhuri
- Christopher Herbert
- Clark
- Clark
- Clark
- Clark Ronald W
- Claver Scott
- Clayden McBride
- Clowes
- Coad Jonathan G
- Coleman Bruce
- Colley Britons
- Colley Britons
- Colls Robert
- Conrad Christoph
- Conrad Conrad
- Conrad Eckert
- Conrad Randeria
- Conze Eckart
- Conze Eckart
- Conze Eckart
- Conze Eckart
- Conze Müller
- Cooper Stoler
- Cordingly David
- Cosgrove Daniels
- Courtney Nicholas
- Cowan C. D.
- Creighton M.
- Crowhurst Patrick
- Crowther J. G.
- Crump Helen
- Cunningham
- Cyriax Richard J
- Czempiel Ernst-Otto
- Dahrendorf Ralf
- Dankelmann Otfried
- Davidson
- Day
- Dean Dennis R
- Deane S.
- Deleuze Guattari
- Demel Walter
- Dening Greg
- Dening Greg
- Dennett Daniel C
- Denzin Norman K
- Dickinson Harry T
- Dickinson Harry T
- Dickinson Harry T
- Dickinson Harry T
- Dickinson Harry T
- Dickinson Harry W
- Dietz Bettina
- Doel Marcus
- Doering-Manteuffel Anselm
- Doering-Manteuffel Anselm
- Dorling Henry T
- Douaire-Marsaudon Francoise
- Downs David Stea
- Drayton Richard
- Drayton Richard
- Drescher Seymor
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- Driver Martins
- Duchhardt Heinz
- Duerr Traumzeit
- Duffy Michael
- Dupree A. H.
- Dupree A. H.
- Dwyer Philip G
- Döring Jörg
- Dünne Stephan Günzel
- Earle Peter
- Eastwood David
- Eccleshall Robert
- Eckert
- Eckert Andreas
- Eckert Andreas
- Edney Matthew H
- Edwards Brian
- Eisenstadt
- Elliott Charles
- Elliston Deborah A
- Elz Neitzel
- Enkemann J.
- Entdeckung
- Eriksen
- Esposito Fernando
- Estensen Miriam
- Etherington Norman
- Etzemüller Thomas
- Evans Eric J
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- Evans-Pritchard Edward
- Falconer William
- Fara Patricia
- Fayle C.
- Fayle C.
- Feather J.
- Findlen Paula
- Flayhart W. H.
- Fleck Ludwik
- Fleming Fergus
- Fletcher Ian
- Flinders Tim
- Flournoy
- Fohrmann Jürgen
- Foucault Michel
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Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)
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- Vale Tom
- Van Geet Chris
- van Zuydam Natalie
- Vandersteen Anthony M.
- Vazquez-Lopez Marta
- Veltman Marijcke W.M.
- Vogt Julie
- von Ziegenweidt Julie
- Vora Ajay
- Vries Minka J.A.
- Wakeling Emma L.
- Walker Neil
- Walker Suellen M.
- Walsh Roddy
- Wanjiku Ivy
- Ware James S.
- Warner Timothy Q.
- Wassmer Evangeline
- Watkins Hugh
- Watson Henry G.
- Watt Christopher
- Waugh Dean
- Webb Nick
- Webster Andrew R.
- Wei Wei
- Welch Angela
- Welch Steven B.
- Werring David
- Wessels Julie
- Westbury Sarah K.
- Westwood John Paul W.
- Wharton John
- Whitehorn Deborah
- Whitworth James
- Wilkins Martin R.
- Willcocks Lisa
- Williams David J.
- Williamson Catherine
- Wong Edwin K.S.
- Wood Nicholas
- Wood Yvette
- Woods Christopher Geoffrey
- Woodward Emma R.
- Workman Sarita
- Wort Stephen J.
- Worth Austen
- Worth Austen
- Yates Katherine
- Yeatman Nigel
- Yong Patrick F.K.
- Young Timothy
- Yu Ping
- Yu-Wai-Man Patrick
- Zhang Zinan
- Zlamalova Eliska
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 06/08/2020
- Field of study
An amendment to this paper has been published and can be accessed via a link at the top of the paper
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- Author
- Abdelrazik M
- Abedalthagafi M
- Abel L
- Abel L
- Abellan J
- Abernathy C
- Abraheem A
- Acklery A
- Acosta-Isaac R
- Adam R
- Adams C
- Adams K
- Adams N
- Adanini O
- Afolabi D
- Agasou A
- Agravante K
- Agravante K
- Agrawal S
- Aguado JM
- Aguilar C
- Aguilar PM
- Aguilera-Albesa S
- Ahmad N
- Ahmadhaider N
- Ahmed A
- Ahmed C
- Aitkin E
- Akeroyd L
- Akhtar MN
- Akinkugbe O
- Al-Moasseb H
- Alasdair F
- Alba J
- Albu S
- Alcalá-Gallardo KAM
- Alcoba-Florez J
- Aldridge J
- Alex B
- Alexander P
- Alfonso J
- Algarin-Lara HR
- Ali A
- Ali HH
- Ali IAM
- Ali S
- Allan A
- Allan E
- Allan J
- Alldis Z
- Allen L
- Allen M
- Allen S
- Allibone S
- Allison KS
- Ally SM
- Almadana V
- Almaden-Boyle C
- Almeida J
- Almoguera B
- Alonso MR
- Altabaibeh A
- Alvarez N
- Alvaro A
- Alves MDM
- Amamio M
- Amamio M
- Amin V
- Anastasescu E
- Anderson J
- Anderson M
- Anderson P
- Anderson S
- Anderson S
- Anderson T
- Andreou P
- Andreu-Bernabeu Á
- Andrew A
- Andrew B
- Andrew G
- Andrews J
- Andrikopoulos P
- Antcliffe D
- Antoine P
- Antonijoan MR
- Antony S
- Anumakonda V
- Anwer M
- Apetri E
- Aquino M
- Arana-Arri E
- Aranda C
- Arango C
- Araque C
- Araujo IMT
- Araujo NK
- Aravindan L
- Arbane G
- Arcanjo AC
- Archer K
- Arden T
- Arias SS
- Arif S
- Armistead J
- Armstrong D
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- Arnaiz A
- Arnott A
- Arora M
- Arranz MJ
- Artiga M-J
- Ashby K
- Ashok SR
- Ashraf S
- Ashton L
- Aslibekyan S
- Astin-Chamberlain R
- Atayeva N
- Attwood B
- Atwal I
- Auld F
- Austin K
- Austin P
- Auton A
- Avello-Malaver Y
- Ayers A
- Ayuso C
- Bach B
- Badal B
- Baddeley A
- Bafitis V
- Baikady RR
- Bailey L
- Baillie JK
- Baillie JK
- Baillie K
- Baines D
- Baines K
- Baird T
- Baird Y
- Baker M
- Bakthavatsalam D
- Baldión-Elorza AM
- Bamford A
- Bamford A
- Bamford P
- Banach D
- Bancroft H
- Bandla N
- Bano S
- Baptista D
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- Barclay WS
- Barker J
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- Barranco-Díaz A
- Barreda-Sánchez M
- Barrera-Penagos V
- Barrett F
- Barron A
- Barrow E
- Barry P
- Bartley S
- Barton J
- Baruah R
- Bashyal A
- Basikolo C
- Bastion V
- Bates H
- Bates M
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- Battle C
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- Baxter-Dore S
- Bayo L-A
- Beadle J
- Bean S
- Beasley A
- Beaumont K
- Beavis S
- Beech E
- Beech V
- Beekes M
- Beer S
- Beesley K
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- Belagodu Z
- Belfield H
- Belhassen-Garcia M
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- Bellamy M
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- Bellwood R
- Bemand T
- Benham L
- Benito HG
- Benkenstein S
- Bennett S
- Bentley M
- Benyon S
- Beranova E
- Bercades G
- Bernal E
- Bernal-Bello D
- Bevan E
- Bewley J
- Bezerra JF
- Bezerra MAC
- Bhatia N
- Bhatterjee R
- Bhuie P
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- Bibi F
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- Biggs H
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- Birkinshaw I
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- Birt M
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- Biss J
- Black C
- Black E
- Black K
- Blackledge B
- Blackledge B
- Blackman H
- Blakemore H
- Blanca-López N
- Blancas R
- Bland Y
- Blow S
- Blowing H
- Blunt M
- Board S
- Bociek A
- Bogaert D
- Boix-Palop L
- Bokhari M
- Bolger A
- Bolger C
- Bolton M
- Bolton R
- Boltwood K
- Bonner S
- Bonnici J
- Booker L
- Borislavova B
- Borja AL
- Borobia A
- Borra C
- Botello A
- Botfield D
- Botfield L
- Bough L
- Bowes A
- Bowey A
- Bowles R
- Bowman F
- Boxall H
- Boyd E
- Boyer N
- Boyle P
- Boyle R
- Boz C
- Bradley C
- Bradley P
- Bradley-Potts J
- Bradley-Potts J
- Bradshaw Z
- Brady A
- Brady L
- Brady M
- Brady R
- Brandwood C
- Brandwood C
- Branney D
- Bravo E
- Brayne A
- Brealey D
- Brealey D
- Brearey S
- Bremmer P
- Bretherick AD
- Brett M
- Brett S
- Brickell K
- Bridgett V
- Brimfield L
- Brinkworth E
- Brion M
- Briton K
- Briton K
- Brochado-Kith Ó
- Bromley M
- Brooke H
- Brooks J
- Brooks J
- Brooks S
- Brown A
- Brown A
- Brown A
- Brown CW
- Brown E
- Brown J
- Bruce M
- Brugada R
- Brunton M
- Bryant J
- Buckley C
- Buckley J
- Buckley S
- Bull R
- Bullock E
- Bullock E
- Bunni L
- Burchett C
- Burda D
- Burgoyne A
- Burn I
- Burnett C
- Burnish R
- Burns K
- Burrow A
- Burt K
- Burtenshaw A
- Burton M
- Bustos M
- Butcher D
- Butler A
- Butler J
- Butler S
- Butt F
- Butterworth-Cowin N
- Button H
- Buttriss C
- Cabello A
- Cabral-Ortega L
- Cabrelli L
- Caceres-Agra JJ
- Cagova L
- Calbo E
- Calderón EJ
- Cale E
- Callaghan M
- Callam S
- Calvo CM
- Camacho S
- Campbell A
- Campbell B
- Campbell H
- Campbell R
- Campbell S
- Campos MC
- Campos S
- Camsooksai J
- Candalija AC
- Candon AM
- Capitán CF
- Capozzi L
- Capps N
- Carbonell C
- Cardona-Huerta S
- Cardwell A
- Carioca AAF
- Carmody M
- Carmody S
- Carnahan M
- Carpintero MS
- Carracedo A
- Carracedo A
- Carratto TMT
- Carrera LG
- Carrillo-Avila JA
- Carson G
- Cart C
- Carter A
- Carter D
- Carter E
- Carter J
- Carter M
- Carter S
- Cartlidge D
- Carungcong J
- Carvalho MCC
- Casasnovas C
- Casey M
- Castano L
- Castaño CF
- Castaño JAT
- Castelao JE
- Castillo MA
- Caswell M
- Caterson J
- Cathcart S
- Catlow L
- Cavazza A
- Cave A
- Cawley K
- Cawley K
- Cawthron K
- Cañadas Y
- Ceballos FC
- Cha M
- Chablani M
- Chadwick R
- Chan R
- Chand M
- Chandler B
- Chandna H
- Chapman S
- Charles B
- Charlesworth R
- Charnock R
- Charris HM
- Chaux JG
- Chaves-Santiago WG
- Chechi K
- Cheema Y
- Chen J
- Cherian S
- Chesters K
- Chetam L
- Cheyne C
- Chikowore P
- Childs D
- Chiquillo-Gómez S
- Chisholm C
- Choudhr O
- Choudhury Y
- Chukkambotla S
- Chávez MEQ
- Cid-Lopez MA
- Cienfuegos-Jimenez O
- Cinquina Z
- Clamp S
- Clapham M
- Clarey E
- Claridge H
- Clark A
- Clark A
- Clark M
- Clark M
- Clark R
- Clark R
- Clark S
- Clark S
- Clark V
- Clarke N
- Clarkson M
- Clayton S
- Clement I
- Clements S
- Clohisey S
- Coates C
- Cochrane P
- Cockerill H
- Cockrell M
- Coe R
- Coetzee S
- Coghlan P
- Cohrane C
- Coker D
- Cole J
- Cole J
- Cole S
- Coleman C
- Coleman D
- Coles H
- Colley J
- Colley N
- Collier D
- Collier D
- Collier H
- Collins A
- Collins C
- Collins E
- Collins E
- Collins K
- Collins K
- Collins R
- Collins V
- Collis M
- Combes E
- Conde-Vicente R
- Conejo IP
- Connell J
- Connolly K
- Connor M
- Convery K
- Conyngham J-A
- Cooke GS
- Cookson R
- Cooper J
- Cooper L
- Cooper L
- Corcoran E
- Corcoran K
- Cordero-Lorenzana ML
- Corella D
- Corin C
- Cornell S
- Cornell T
- Corner A
- Corral MA
- Corrales A
- Cortes-Sanchez JL
- Corton M
- Cosgrove D
- Cosier T
- Costa TX
- Cother N
- Coton Z
- Cottam L-J
- Cottle J
- Coulding M
- Coutts A
- Coventry T
- Covernton P
- Cowley A
- Cowley N
- Cowton A
- Cox A
- Coyle J
- Craig H
- Craig J
- Crawley R
- Creagh-Brown B
- Crew A
- Crickmore V
- Cristiano D
- Croft M
- Crowe R
- Crowley M
- Cruz C
- Cruz MS
- Cruz R
- Cruz R
- Csabi P
- Cuerda VM
- Cuesta L
- Cullum L
- Cunha GCR
- Cunningham A
- Cunningham M
- Cupitt J
- Curgenven H
- Currie S
- Cusack R
- Cutler S
- Cutting P
- Cutts S
- Da Gloria EF
- Da Rocha J
- da Silva Filipe A
- da Silva GV
- Daglish J
- Dagutao Z
- Dale K
- Dale S
- Dalmau D
- Dalton C
- Dalton J
- Daly Z
- Dalziel J
- DAmato F
- Dance A
- Daniel A
- Daniel E
- Daniel P
- Daniels A
- Dantas-Komatsu RCS
- Dark P
- Darlington K
- Darnaude MT
- Darnell S
- Das M
- Das S
- Dasgin J
- Daubney E
- Davey M
- David B
- Davidson N
- Davies A
- Davies C
- Davies C
- Davies E
- Davies F
- Davies G
- Davies H
- Davies J
- Davies K
- Davies L
- Davies M
- Davies M
- Davies R
- Davies S
- Davis C
- Davis J
- Davison C
- Dawson A
- Dawson D
- Day A
- Day N
- de Andrés R
- de Araújo JNG
- De Beger S
- de Bustamante AD
- de Gordoa LO-R
- de Heredia ML
- de Juan C
- De la Cruz Troca J
- de la Horra C
- de la Hoz AB
- De Martino-Rodríguez A
- de Neef M
- De Queiroz JG
- de Quirós FGB
- de Silva T
- de Sousa Alves Neri JL
- Deacon B
- Deacon B
- Dean C
- Dearden J
- DeAth Y
- Debreceni G
- Deery J
- del Campo-Pérez V
- Dela Rosa A
- Delaney J
- Delgado CC
- Delgado-Cuesta J
- Dell A
- Demetriou C
- Denmade C
- Dennis C
- Dent K
- Dent M
- Depante M
- Dexter C
- Diaba C
- Diaba C
- Diaz-Caneja CM
- Dickson H
- Dietl B
- Digby B
- Digby S
- Ding L
- Diz-de Almeida S
- Djeugam B
- Doble P
- Dobson E
- Docherty AB
- Dodd A
- Dodds S
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- Domingos P
- Domínguez-Garrido E
- Donaldson A
- Donaldson D
- Donegan C
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- Donne B
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- Doonan R
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- Duarte AM
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- Durie A
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- Durrant G
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- Fernández-Robelo U
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- Fuentes CS
- Fumadó V
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- García FR
- García I
- García L
- García M
- García MG
- García PM
- García-de-Vicuña A
- García-García I
- García-Ibarbia C
- García-Montero AC
- García-Soidán A
- García-Vázquez E
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- Gude ET
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- Íñiguez M
- Publication venue
- Springer Nature
- Publication date
- 17/05/2023
- Field of study
Data availability: Downloadable summary data are available through the GenOMICC data site (https://genomicc.org/data). Summary statistics are available, but without the 23andMe summary statistics, except for the 10,000 most significant hits, for which full summary statistics are available. The full GWAS summary statistics for the 23andMe discovery dataset will be made available through 23andMe to qualified researchers under an agreement with 23andMe that protects the privacy of the 23andMe participants. For further information and to apply for access to the data, see the 23andMe website (https://research.23andMe.com/dataset-access/). All individual-level genotype and whole-genome sequencing data (for both academic and commercial uses) can be accessed through the UKRI/HDR UK Outbreak Data Analysis Platform (https://odap.ac.uk). A restricted dataset for a subset of GenOMICC participants is also available through the Genomics England data service. Monocyte RNA-seq data are available under the title ‘Monocyte gene expression data’ within the Oxford University Research Archives (https://doi.org/10.5287/ora-ko7q2nq66). Sequencing data will be made freely available to organizations and researchers to conduct research in accordance with the UK Policy Framework for Health and Social Care Research through a data access agreement. Sequencing data have been deposited at the European Genome–Phenome Archive (EGA), which is hosted by the EBI and the CRG, under accession number EGAS00001007111.Extended data figures and tables are available online at https://www.nature.com/articles/s41586-023-06034-3#Sec21 .Supplementary information is available online at https://www.nature.com/articles/s41586-023-06034-3#Sec22 .Code availability:
Code to calculate the imputation of P values on the basis of SNPs in linkage disequilibrium is available at GitHub (https://github.com/baillielab/GenOMICC_GWAS).Acknowledgements: We thank the members of the Banco Nacional de ADN and the GRA@CE cohort group; and the research participants and employees of 23andMe for making this work possible. A full list of contributors who have provided data that were collated in the HGI project, including previous iterations, is available online (https://www.covid19hg.org/acknowledgements).Change history: 11 July 2023: A Correction to this paper has been published at: https://doi.org/10.1038/s41586-023-06383-z. -- In the version of this article initially published, the name of Ana Margarita Baldión-Elorza, of the SCOURGE Consortium, appeared incorrectly (as Ana María Baldion) and has now been amended in the HTML and PDF versions of the article.Copyright © The Author(s) 2023, Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown1 to be highly efficient for discovery of genetic associations2. Despite the advanced stage of illness at presentation, we have shown that host genetics in patients who are critically ill with COVID-19 can identify immunomodulatory therapies with strong beneficial effects in this group3. Here we analyse 24,202 cases of COVID-19 with critical illness comprising a combination of microarray genotype and whole-genome sequencing data from cases of critical illness in the international GenOMICC (11,440 cases) study, combined with other studies recruiting hospitalized patients with a strong focus on severe and critical disease: ISARIC4C (676 cases) and the SCOURGE consortium (5,934 cases). To put these results in the context of existing work, we conduct a meta-analysis of the new GenOMICC genome-wide association study (GWAS) results with previously published data. We find 49 genome-wide significant associations, of which 16 have not been reported previously. To investigate the therapeutic implications of these findings, we infer the structural consequences of protein-coding variants, and combine our GWAS results with gene expression data using a monocyte transcriptome-wide association study (TWAS) model, as well as gene and protein expression using Mendelian randomization. We identify potentially druggable targets in multiple systems, including inflammatory signalling (JAK1), monocyte–macrophage activation and endothelial permeability (PDE4A), immunometabolism (SLC2A5 and AK5), and host factors required for viral entry and replication (TMPRSS2 and RAB2A).GenOMICC was funded by Sepsis Research (the Fiona Elizabeth Agnew Trust), the Intensive Care Society, a Wellcome Trust Senior Research Fellowship (to J.K.B., 223164/Z/21/Z), the Department of Health and Social Care (DHSC), Illumina, LifeArc, the Medical Research Council, UKRI, a BBSRC Institute Program Support Grant to the Roslin Institute (BBS/E/D/20002172, BBS/E/D/10002070 and BBS/E/D/30002275) and UKRI grants MC_PC_20004, MC_PC_19025, MC_PC_1905 and MRNO2995X/1. A.D.B. acknowledges funding from the Wellcome PhD training fellowship for clinicians (204979/Z/16/Z), the Edinburgh Clinical Academic Track (ECAT) programme. This research is supported in part by the Data and Connectivity National Core Study, led by Health Data Research UK in partnership with the Office for National Statistics and funded by UK Research and Innovation (grant MC_PC_20029). Laboratory work was funded by a Wellcome Intermediate Clinical Fellowship to B.F. (201488/Z/16/Z). We acknowledge the staff at NHS Digital, Public Health England and the Intensive Care National Audit and Research Centre who provided clinical data on the participants; and the National Institute for Healthcare Research Clinical Research Network (NIHR CRN) and the Chief Scientist’s Office (Scotland), who facilitate recruitment into research studies in NHS hospitals, and to the global ISARIC and InFACT consortia. GenOMICC genotype controls were obtained using UK Biobank Resource under project 788 funded by Roslin Institute Strategic Programme Grants from the BBSRC (BBS/E/D/10002070 and BBS/E/D/30002275) and Health Data Research UK (HDR-9004 and HDR-9003). UK Biobank data were used in the GSMR analyses presented here under project 66982. The UK Biobank was established by the Wellcome Trust medical charity, Medical Research Council, Department of Health, Scottish Government and the Northwest Regional Development Agency. It has also had funding from the Welsh Assembly Government, British Heart Foundation and Diabetes UK. The work of L.K. was supported by an RCUK Innovation Fellowship from the National Productivity Investment Fund (MR/R026408/1). J.Y. is supported by the Westlake Education Foundation. SCOURGE is funded by the Instituto de Salud Carlos III (COV20_00622 to A.C., PI20/00876 to C.F.), European Union (ERDF) ‘A way of making Europe’, Fundación Amancio Ortega, Banco de Santander (to A.C.), Cabildo Insular de Tenerife (CGIEU0000219140 ‘Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19’ to C.F.) and Fundación Canaria Instituto de Investigación Sanitaria de Canarias (PIFIISC20/57 to C.F.). We also acknowledge the contribution of the Centro National de Genotipado (CEGEN) and Centro de Supercomputación de Galicia (CESGA) for funding this project by providing supercomputing infrastructures. A.D.L. is a recipient of fellowships from the National Council for Scientific and Technological Development (CNPq)-Brazil (309173/2019-1 and 201527/2020-0)
A second update on mapping the human genetic architecture of COVID-19
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- Tusié-Luna T
- Tutt G
- Tutton R
- Twiss S
- Tyl D
- Tyler A
- Tzoulaki I
- Téllez L
- Uchimura Y
- Ueda S
- Ueda T
- Uellendahl-Werth F
- Uitterlinden AG
- Ullum H
- Umeda A
- Upadhyay KJ
- Upton J
- Urioste M
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- Usher M
- Utsugi M
- Uwamino Y
- Vadgama N
- Vadla MS
- Vaida M
- Valdeavella K
- Valdés PA
- Valencia-Ramos J
- Valenti L
- Valenzuela-Jorquera H
- Vallerga CL
- Valsecchi MG
- Van den Berge M
- Van der Laan S
- Van Heel DA
- Van Heel DA
- Van Koutrick L
- Vandernoot I
- Varghese M
- Vasilevska-Ristovska J
- Vassell K
- Vedage D
- Veerapen K
- Vega J
- Vehreschild MJGT
- Velasco DG
- Velázquez-Cruz R
- Venkatesh H
- Verdugo RA
- Verdugo RA
- Vergasova E
- Verlander M
- Vertue M
- Verula J
- Vigueras-Hernández A
- Vigurs C
- Villa A
- Villalonga JM
- Vincent R
- Virgilio E
- Virginia M-RA
- Vitart V
- Vizcaychipi M
- Vlasschaert C
- Vochin A
- Volland S
- Von Hohenstaufen Puoti KA
- Voza A
- Vuylsteke A
- Várnai R
- Vázquez-Pérez JA
- Wacker EM
- Wackett T
- Wadams B
- Waddell G
- Waddington N
- Wagner R
- Wagstaff V
- Waite AAC
- Wakabayashi A
- Wakahara K
- Wakefield P
- Wakinshaw F
- Waldron J
- Walker C
- Walker D
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- Walker R
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- Walker S
- Wall A
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- Walter J
- Walters RK
- Walton O
- Wang B
- Wang QS
- Wang X
- Wang X
- Ward D
- Ward G
- Ward K
- Ward L
- Ward M
- Ward S
- Warden S
- Warren D
- Warrington J
- Washington NL
- Wassall H
- Wasson C
- Watanabe H
- Watanabe K
- Waters A
- Waters E
- Watkins C
- Watson E
- Watson G
- Watson J
- Watters M
- Watts S
- Waugh V
- Weaver J
- Webb N
- Webster A
- Webster D
- Webster K
- Wei S
- Wei Z
- Weiss ST
- Weldon CH
- Welford A
- Wells C
- Welters I
- Wendorff M
- Wendtner CM
- Werge T
- Wesse T
- West J
- Westergaard D
- Weston H
- Whileman A
- Whitaker E
- Whitbread J
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- White I
- White K
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- Whitehead V
- Whitelaw L
- Whiteley S
- Whiteside J
- Whitney J
- Whitton C
- Whyte C
- Wicks SJ
- Wiegrebe S
- Wienbrandt L
- Wignall A
- Wilby L
- Wilcox L
- Wild H
- Wild L
- Wilding L
- Wiles M
- Wilfling S
- Wiliams A
- Wilkin F
- Wilkins J
- Wilkinson A
- Wilkinson B
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- Williams C
- Williams D
- Williams E
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- Winchester J
- Winkler TW
- Winmill H
- Winnard S
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- Winter-Goodwin B
- Wittig M
- Witzke O
- Wolf-Roberts R
- Wolford BN
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- Wong J
- Wong J
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- Woodruff M
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- Woodward E
- Woodward J
- Woolcock M
- Woolley AE
- Worner R
- Worsley L
- Wray G
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- Wright C
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- Wright M
- Wright S
- Wrobel N
- Wu Y
- Wulandari R
- Wylie K
- Wyllie DH
- Wynter I
- Xavier K
- Xue X
- Yagi K
- Yamada M
- Yamada Y
- Yamagata K
- Yamasaki M
- Yang J
- Yaspan B
- Yassen AM
- Yasui Y
- Yates B
- Yatomi M
- Ye C
- Yermakovich D
- Yeung RSM
- Yi X
- Yonekawa A
- Yoo S
- Yoon K
- Yoshida K
- Yoshida S
- Yoshida S
- Yoshida T
- Yoshihara T
- Yoshiya K
- Yoshiyama T
- Young M
- Yue F
- Yun N
- Yáñez CE
- Yáñez Z
- Zainulabid UA
- Zainy T
- Zak A
- Zaki A
- Zamikula J
- Zamudio IPM
- Zanella A
- Zapata-Contreras D
- Zapatamartinez M
- Zarate R
- Zarei N
- Zavaleta DAF
- Zawadzki P
- Zawati MH
- Zborowski AC
- Zeberg H
- Zechner M
- Zhang Q
- Zhao X
- Zheng C
- Zheng T
- Zhlawi HJ
- Zhlawi MWJ
- Zholdybayeva E
- Zhou W
- Zhu W
- Zitter L
- Zoller H
- Zongo O
- Zorloni C
- Zuñiga-Pacheco P
- Zárate RN
- Zúñiga-Ramos J
- Álvarez BG
- Ávila-Arcos MA
- Ávila-Arcos MC
- Özer O
- Überla K
- Þorsteinsdóttir U
- Publication venue
- Nature Research
- Publication date
- 21/06/2023
- Field of study