Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran; Hana Lango Allen; Oliver S. Burren; William Rae; Daniel Greene; Emily Staples; Zinan Zhang; James H. R. Farmery; Ilenia Simeoni; Elizabeth Rivers; Jesmeen Maimaris; Christopher J. Penkett; Jonathan Stephens; Sri V. V. Deevi; Alba Sanchis‐Juan; Nicholas Gleadall; Moira Thomas; Ravishankar Sargur; Pavels Gordins; Helen E. Baxendale; Matthew A. Brown; Paul Tuijnenburg; Austen Worth; Steven Hanson; Rachel Linger; Matthew S. Buckland; Paula Rayner-Matthews; Kimberly Gilmour; Crina Samarghitean; Suranjith L. Seneviratne; David M. Sansom; Andy G. Lynch; Karyn Mégy; Eva Ellinghaus; David Ellinghaus; Silje F. Jørgensen; Tom H. Karlsen; Kathleen Stirrups; Antony J. Cutler; Dinakantha Kumararatne; Anita Chandra; David Edgar; Archana Herwadkar; Nichola Cooper; Sofia Grigoriadou; Aarnoud Huissoon; Sarah Goddard; Stephen Jolles; Catharina Schuetz; Felix Boschann; Stephen Abbs; Zoe Adhya; Julian Adlard; Maryam Afzal; Irshad Ahmed; Munaza Ahmed; Saeed Ahmed; Timothy J. Aitman; Hana Alachkar; Jayanthi Alamelu; Raza Alikhan; Carl E. Allen; Louise Allen; David Allsup; Arif Alvi; Gautam Ambegaonkar; Ariharan Anantharachagan; Philip Ancliff; Julie A. Anderson; Richard Antrobus; Ruth Armstrong; Gavin Arno; Gururaj Arumugakani; Rita Arya; Sofie Ashford; William J. Astle; Anthony Attwood; Steve Austin; Yeşim Aydınok; Waqar Ayub; Christian Babbs; Chiara Bacchelli; Trevor Baglin; Tamam Bakchoul; Tadbir K. Bariana; Jonathan Barratt; Julian Barwell; John Baski; Rachel W. Bates; Joana Batista; Helen E. Baxendale; Gareth Baynam; David Bennett; Claire Bethune; Neha Bhatnagar; Shahnaz Bibi; Agnieszka Bierżyńska; Tina Biss; Maria Bitner‐Glindzicz; Marta Bleda; Iulia Blesneac; Barbara Boardman; Preetham Boddana; Harm Jan Bogaard; Claire Booth; Sara Boyce; John R. Bradley; Angela F. Brady; Gerome Breen; Paul Brennan; Carole Brewer; Annette Briley; Matthew A. Brown; Richard Brown; Michael J. Browning; Mary Brownlie; Christine Bryson; Rachel Buchan; Jackie Buck; Matthew S. Buckland; Teofila Bueser; Carmen Bugarin Diz; Siobhan O. Burns; Oliver S. Burren; Paul Calleja; Jenny Carmichael; Gerald Carr‐White; Keren Carss; Ruth Casey; Elizabeth Chalmers; Jenny Chambers; John C. Chambers; Melanie Chan; Melissa V. Chan; Anita Chandra; Floria Cheng; Iván K. Chinn; Patrick F. Chinnery; Manali Chitre; Sam Chong; Martin Christian; Colin Church; Emma Clement; Naomi Clements Brod; Hayley Clifford; Virginia Clowes; Gerry Coghlan; Elizabeth Colby; Trevor Cole; Janine Collins; Peter W. Collins; Robin Condliffe; H. Terence Cook; Stuart A. Cook; Victoria Cookson; Nichola Cooper; Paul A. Corris; Amanda Creaser-Myers; Abigail Crisp-Hihn; Nicola Curry; Antony J. Cutler; Rosa da Penha Ferreira da Costa; Cesare Danesino; Matthew J. Daniels; Damaris Darby; Louise C. Daugherty; E. Graham Davies; Sophie Davies; John Davis; Godelieve J. de Bree; Sarah Deacock; Patrick Deegan; Sri V. V. Deevi; John Dempster; Timothy Dent; Charu Deshpande; Lisa Devlin; Eleanor Dewhurst; Anand Dixit; Peter Dixon; Rainer Döffinger; Helen Dolling; Natalie Dormand; Kate Downes; Anna M. Drazyk; Elizabeth Drewe; Daniel Duarte; Tina Dutt; David Edgar; Karen Edwards; William Egner; Melanie N. Ekani; Tariq El‐Shanawany; Shuayb Elkhalifa; Tony Elston; Ingrid Emmerson; Wendy N. Erber; Marie Erwood; Maria C. Estiú; D. Gareth Evans; Gillian Evans; Tamara Everington; Mélanie Eyries; James H. R. Farmery; Rémi Favier; Helen V. Firth; Maggie Fitzpatrick; Debra Fletcher; Frances Flinter; James C. Fox; Amy Frary; Courtney E. French; Kathleen Freson; Mattia Frontini; Bruce Furie; Daniel P. Gale; Henning Gall; Alice Gardham; H. Bobby Gaspar; Michael Gattens; Neeti Ghali; Pavandeep Ghataorhe; Stefano Ghio; Hossein-Ardeschir Ghofrani; Rohit Ghurye; J. Simon R. Gibbs; Rodney D. Gilbert; Kimberly Gilmour; Barbara Girerd; Joanna Girling; Paul Gissen; Nicholas Gleadall; Sarah Goddard; Pavels Gordins; Kathleen M. Gorman; David Gosal; Stefan Gräf; Luigi Grassi; Daniel Greene; Alan Greenhalgh; Lynn Greenhalgh; Andreas Greinacher; Paolo Gresele; Philip G. Griffiths; S. W. Griffiths; Sofia Grigoriadou; Detelina Grozeva; Scott Hackett; Robert D. M. Hadden; Charaka Hadinnapola; Rosie Hague; William M. Hague; Matthias Haimel; Matthew D. Hall; Csaba Halmagyi; Tracey Hammerton; Helen Hanson; Kirsty Harkness; Andrew R. Harper; Lorraine Harper; Claire L. Harris; Claire Harrison; Daniel Hart; Ahamad Hassan; Grant Hayman; Johan W. M. Heemskerk; Shivaram Hegde; Alex Henderson; Robert H. Henderson; Anke Hensiek; Yvonne Henskens; Archana Herwadkar; Joshua Hodgson; Jonathan Hoffman; Simon Holden; Muriel Holder; Rita Horváth; Henry Houlden; Arjan C. Houweling; Luke Howard; Fengyuan Hu; Gavin Hudson; Sean Hughes; Stephen Hughes; Anna E. Huis in ‘t Veld; Aarnoud Huissoon; Marc Humbert; Matthew E. Hurles; Jane A. Hurst; Val Irvine; Louise Izatt; Roger James; Praveen Jeevaratnam; Mark S. Johnson; Sally Johnson; Stephen Jolles; Jennifer D. Jolley; Bryony Jones; Julie R. Jones; Dragana Josifova; Neringa Jurkutė; Mohammed Yousuf Karim; Mahantesh A. Karoshi; Mary Kasanicki; Hanadi Kazkaz; Rashid Kazmi; David Keeling; Peter Kelleher; Anne M. Kelly; Carly Kempster; Fiona Kennedy; Sorena Kiani; David G. Kiely; Nathalie Kingston; Sally E. Kinsey; Nigel Klein; Robert Klima; Ellen Knox; Myrto Kostadima; Gábor Kovács; Ania Koziell; Roman Kreuzhuber; Deepa Krishnakumar; Taco W. Kuijpers; Ajith Kumar; Dinakantha Kumararatne; Manju A. Kurian; James Laffan; Michael Laffan; Fiona Lalloo; Michele P. Lambert; Hana Lango Allen; Sarah Lawman; Allan Lawrie; D. Mark Layton; Sara Lear; Melissa Lees; Claire Lentaigne; Adam P. Levine; Andrew Lewington; Wei Li; Ri Liesner; Rachel Linger; Bin Liu; Hilary Longhurst; Lorena Lorenzo; Eleni Louka; Silvia Lucato Hadeler; Paul Lyons; Malcolm MacDougall; Rajiv D. Machado; Robert V. MacKenzie Ross; Lucy Mackillop; Robert E. MacLaren; Bella Madan; Laura A. Magee; Mohamed Mahdi-Rogers; Eamonn R. Maher; Jesmeen Maimaris; Mike Makris; Sarah Mangles; Ania Manson; Adnan Manzur; Rutendo Mapeta; Kevin J. Marchbank; Patrick B. Mark; Stephen D. Marks; Hugh S. Markus; Hanns–Ulrich Marschall; Andrew Marshall; Jennifer M. Martin; Larahmie Masati; Mary Mathias; Vera Matser; Emma Matthews; Anna Maw; Heather Maxwell; Paul McAlinden; Mark I. McCarthy; Elizabeth McDermott; Simon J. McGowan; Coleen McJannet; Harriet McKinney; Stuart Meacham; Adam J. Mead; Ignacio Medina Castello; Sharon Meehan; Karyn Mégy; Sarju Mehta; Catherine L. Mercer; Michel Michaelides; Anna C. Michell; David V. Milford; Carolyn M. Millar; Hazel Millar; Anoop Mistry; Floor CJI Moenen; Shahin Moledina; David Montani; Anthony T. Moore; Jason H. Moore; Nicholas W. Morrell; Valerie Morrisson; Monika Mozere; Keith W. Muir; Andrew Mumford; Sai Murng; Iman Nasir; Sergey Nejentsev; Michael Newnham; Joanne Ng; Adeline Ngoh; Sadia Noorani; Muna Noori; Paquita Nurden; Jennifer O’Sullivan; Samya Obaji; Steven Okoli; Éric Oksenhendler; Andrea Olschewski; Horst Olschewski; Albert Ong; Kai Ren Ong; S. Oram; Elizabeth Ormondroyd; Shokri Othman; Willem H. Ouwehand; Antonis Pantazis; Sofia Papadia; Apostolos Papandreou; Soo‐Mi Park; Alasdair Parker; David Parry; Georgina Parsons; John Pasi; Joan Paterson; Jeanette H. Payne; Andrew J. Peacock; Kathelijne Peerlinck; Christopher J. Penkett; Joanna Pepke‐Żaba; David J. Perry; R. Petersen; Bartłomiej Piechowski‐Jóźwiak; Fernando Pinto; Gary Polwarth; Mark Ponsford; Sanjay Prasad; Inga Prokopenko; Beth Psaila; Angela Pyle; Waseem Qasim; Ellie Quinn; Isabella Quinti; Sanjay Raina; Lavanya Ranganathan; Julia Rankin; Stuart Rankin; Anupama Rao; F. Lucy Raymond; Paula Rayner-Matthews; Karola Rehnström; Evan Reid; Mary M. Reilly; Tara Renton; Shoshana Revel‐Vilk; Christopher J. Rhodes; Andrew S.C. Rice; Emma E. Richards; Mike Richards; Sylvia Richardson; Alex Richter; Leema Robert; Irene Roberts; Matthew T. Rondina; Elisabeth Rosser; Peter M. Rothwell; Catherine Roughley; Noémi Roy; Kévin Rue-Albrecht; Omid Sadeghi‐Alavijeh; Moin A. Saleem; Richard M. Salmon; Nilesh J. Samani; Crina Samarghitean; Jennifer G. Sambrook; Alba Sanchis‐Juan; Richard Sandford; Saikat Santra; Ravishankar Sargur; Simon C. Satchell; Sinisa Savic; Laura Scelsi; Gwen Schotte; Sol Schulman; Harald Schulze; Richard H. Scott; Marie Scully; Claire Searle; Werner Seeger; Suranjith L. Seneviratne; William A. Sewell; Denis Seyres; Fiona Shackley; Olga Shamardina; Susan Shapiro; Pankaj Sharma; Hassan Shehata; Deborah Shipley; Rakefet Chen‐Shtoyerman; Keith Sibson; Lucy Side; Ilenia Simeoni; Michael A. Simpson; Matthew C. Sims; Manish D. Sinha; Suthesh Sivapalaratnam; Anne‐Bine Skytte; Kenneth G. C. Smith; Katie Snape; Linda Sneddon; Aman Sohal; Florent Soubrier; Laura Southgate; Mark Southwood; Miranda Splitt; Simon Staines; Emily Staples; Hannah Stark; Hans J. Stauss; Cathal Steele; Dan J. Stein; Penelope E. Stein; Jonathan Stephens; Kathleen Stirrups; Sophie Stock; Matthew Stubbs; Jay Suntharalingam; Emilia M. Swietlik; Emily Symington; Robert C. Tait; Kate Talks; Rhea Tan; Gordon Taylor; Jecko Thachil; James Thaventhiran; Andreas C. Themistocleous; David Thomas; Ellen Thomas; Moira Thomas; Patrick Thomas; Dorothy Thompson; Kate Thomson; Adrian J. Thrasher; Chantal Thys; Tobias Tilly; Marc Tischkowitz; Catherine Titterton; John A. Todd; Cheng‐Hock Toh; Anton T. J. Tool; Mark Toshner; Matthew Traylor; Carmen Treacy; Paul Treadaway; Richard C. Trembath; Sarah Trippier; Salih Tuna; Wojciech Turek; Ernest Turro; Paul D. Upton; Rafał Urniaż; Tom Vale; Chris Van Geet; Natalie R. van Zuydam; Anthony M. Vandersteen; Marta Vazquez‐Lopez; Marijcke W. M. Veltman; Julie Vogt; Julie von Ziegenweidt; Anton Vonk Noordegraaf; Ajay Vora; Minka J. A. Vries; Emma Wakeling; Neil Walker; Suellen M. Walker; Roddy Walsh; Ivy Wanjiku; James S. Ware; Timothy Q. Warner; Evangeline Wassmer; Hugh Watkins; Henry G. Watson; Christopher D. Watt; Dean Waugh; Nick Webb; Andrew R. Webster; Wei Wei; Angela Welch; Steven Welch; David J. Werring; Julie Wessels; Sarah K. Westbury; John-Paul W. Westwood; John Wharton; Deborah Whitehorn; James Whitworth; Martin R. Wilkins; Lisa Willcocks; David Williams; Catherine Williamson; Edwin Wong; Nicholas Wood; Yvette Wood; C. Geoffrey Woods; Emma R. Woodward; Sarita Workman; Stephen J. Wort; Austen Worth; Katherine Yates; Nigel Yeatman; Patrick Yong; Timothy M. Young; Ping Yu; Patrick Yu‐Wai‐Man; Eliska Zlamalova; Paul Lyons; Matthew E. Hurles; Sinisa Savic; Siobhan O. Burns; Taco W. Kuijpers; Ernest Turro; Willem H. Ouwehand; Adrian J. Thrasher; Kenneth G. C. Smith

doi:10.1038/s41586-020-2265-1

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran(Cambridge School), Hana Lango Allen(NHS Blood and Transplant), Oliver S. Burren(University of Cambridge), William Rae(University of Cambridge), Daniel Greene(University of Cambridge), Emily Staples(University of Cambridge), Zinan Zhang(National Institutes of Health), James H. R. Farmery(University of Cambridge), Ilenia Simeoni(University of Cambridge), Elizabeth Rivers(Great Ormond Street Hospital), Jesmeen Maimaris(Great Ormond Street Hospital), Christopher J. Penkett(University of Cambridge), Jonathan Stephens(NHS Blood and Transplant), Sri V. V. Deevi(University of Cambridge), Alba Sanchis‐Juan(NHS Blood and Transplant), Nicholas Gleadall(NHS Blood and Transplant), Moira Thomas(University of Cambridge), Ravishankar Sargur(Oslo University Hospital), Pavels Gordins(Oslo University Hospital), Helen E. Baxendale(Oslo University Hospital), Matthew A. Brown(Oslo University Hospital), Paul Tuijnenburg(University of Cambridge), Austen Worth(Great Ormond Street Hospital), Steven Hanson(Royal Free London NHS Foundation Trust), Rachel Linger(University of Cambridge), Matthew S. Buckland(Royal Free London NHS Foundation Trust), Paula Rayner-Matthews(Barts Health NHS Trust), Kimberly Gilmour(Chapel Allerton Hospital), Crina Samarghitean(University of Cambridge), Suranjith L. Seneviratne(University Hospitals Birmingham NHS Foundation Trust), David M. Sansom(Royal Free London NHS Foundation Trust), Andy G. Lynch(University of St Andrews), Karyn Mégy(University of Cambridge), Eva Ellinghaus(Oslo University Hospital), David Ellinghaus(Oslo University Hospital), Silje F. Jørgensen(Oslo University Hospital), Tom H. Karlsen(Oslo University Hospital), Kathleen Stirrups(University of Cambridge), Antony J. Cutler(Centre for Human Genetics), Dinakantha Kumararatne(University of Cambridge), Anita Chandra(University of Cambridge), David Edgar(Trinity College Dublin), Archana Herwadkar(Great Ormond Street Hospital for Children NHS Foundation Trust), Nichola Cooper(University of Cambridge), Sofia Grigoriadou(University Hospitals Birmingham NHS Foundation Trust), Aarnoud Huissoon(University Hospitals Birmingham NHS Foundation Trust), Sarah Goddard(Moorfields Eye Hospital NHS Foundation Trust), Stephen Jolles(Leeds Teaching Hospitals NHS Trust), Catharina Schuetz(Warrington and Halton Teaching Hospitals NHS Foundation Trust), Felix Boschann(University of Cambridge), Stephen Abbs(NHS Blood and Transplant), Zoe Adhya(University of Cambridge), Julian Adlard(Guy's and St Thomas' NHS Foundation Trust), Maryam Afzal(Ege University), Irshad Ahmed(University Hospitals Coventry and Warwickshire NHS Trust), Munaza Ahmed(University of Oxford), Saeed Ahmed(Great Ormond Street Hospital), Timothy J. Aitman(Cambridge University Hospitals NHS Foundation Trust), Hana Alachkar, Jayanthi Alamelu(Royal Free London NHS Foundation Trust), Raza Alikhan(University of Leicester), Carl E. Allen(Leicester Royal Infirmary), Louise Allen(Imperial College London), David Allsup(Oxford University Hospitals NHS Trust), Arif Alvi(University of Cambridge), Gautam Ambegaonkar(University of Cambridge), Ariharan Anantharachagan(The University of Western Australia), Philip Ancliff(John Radcliffe Hospital), Julie A. Anderson(University Hospitals Plymouth NHS Trust), Richard Antrobus(Churchill Hospital), Ruth Armstrong(Great Ormond Street Hospital for Children NHS Foundation Trust), Gavin Arno(University of Bristol), Gururaj Arumugakani(Royal Victoria Infirmary), Rita Arya(Great Ormond Street Hospital for Children NHS Foundation Trust), Sofie Ashford(University of Cambridge), William J. Astle(John Radcliffe Hospital), Anthony Attwood(Manchester University NHS Foundation Trust), Steve Austin(Gloucestershire Hospitals NHS Foundation Trust), Yeşim Aydınok(Amsterdam UMC Location Vrije Universiteit Amsterdam), Waqar Ayub(Great Ormond Street Hospital for Children NHS Foundation Trust), Christian Babbs(Southampton General Hospital), Chiara Bacchelli(University of Cambridge), Trevor Baglin(London North West Healthcare NHS Trust), Tamam Bakchoul(King's College London), Tadbir K. Bariana(Newcastle University), Jonathan Barratt(Royal Devon & Exeter NHS Foundation Trust), Julian Barwell(King's College London), John Baski(University of Cambridge), Rachel W. Bates(Cambridge University Hospitals NHS Foundation Trust), Joana Batista(Leicester Royal Infirmary), Helen E. Baxendale(University of Cambridge), Gareth Baynam(University of Cambridge), David Bennett(Imperial College London), Claire Bethune(University Hospitals of Leicester NHS Trust), Neha Bhatnagar(University College London), Shahnaz Bibi(King's College Hospital NHS Foundation Trust), Agnieszka Bierżyńska(King's College London), Tina Biss(University College London), Maria Bitner‐Glindzicz(University of Cambridge), Marta Bleda(University of Cambridge), Iulia Blesneac(Cambridge University Hospitals NHS Foundation Trust), Barbara Boardman(St Thomas' Hospital), Preetham Boddana(University of Cambridge), Harm Jan Bogaard(University of Cambridge), Claire Booth(NHS Greater Glasgow and Clyde), Sara Boyce(King's College London), John R. Bradley(Imperial College London), Angela F. Brady(University College London), Gerome Breen(Queen Mary University of London), Paul Brennan(University of Cambridge), Carole Brewer(Imperial College Healthcare NHS Trust), Annette Briley(Baylor College of Medicine), Matthew A. Brown(University of Cambridge), Richard Brown(University of Cambridge), Michael J. Browning(University College London Hospitals NHS Foundation Trust), Mary Brownlie(Nottingham University Hospitals NHS Trust), Christine Bryson(Golden Jubilee National Hospital), Rachel Buchan(Great Ormond Street Hospital for Children NHS Foundation Trust), Jackie Buck(University of Cambridge), Matthew S. Buckland(University Hospitals Birmingham NHS Foundation Trust), Teofila Bueser(London North West Healthcare NHS Trust), Carmen Bugarin Diz(Royal Free London NHS Foundation Trust), Siobhan O. Burns(Royal Free London NHS Foundation Trust), Oliver S. Burren(University of Cambridge), Paul Calleja(University of Cambridge), Jenny Carmichael(Cardiff University), Gerald Carr‐White(Royal Hallamshire Hospital), Keren Carss(Imperial College Healthcare NHS Trust), Ruth Casey(Imperial College London), Elizabeth Chalmers(Great Ormond Street Hospital for Children NHS Foundation Trust), Jenny Chambers(Imperial College London), John C. Chambers(Newcastle University), Melanie Chan(Royal Hallamshire Hospital), Melissa V. Chan(University of Cambridge), Anita Chandra(University of Cambridge), Floria Cheng(Centre for Human Genetics), Iván K. Chinn(Royal Brompton & Harefield NHS Foundation Trust), Patrick F. Chinnery(University of Pavia), Manali Chitre(Oxford University Hospitals NHS Trust), Sam Chong(Oxford University Hospitals NHS Trust), Martin Christian(University of Cambridge), Colin Church(Great Ormond Street Hospital for Children NHS Foundation Trust), Emma Clement(Cambridge University Hospitals NHS Foundation Trust), Naomi Clements Brod(University of Cambridge), Hayley Clifford(Amsterdam University Medical Centers), Virginia Clowes(Royal Surrey County Hospital), Gerry Coghlan(University of Cambridge), Elizabeth Colby(University of Cambridge), Trevor Cole(Barts Health NHS Trust), Janine Collins(Oxford University Hospitals NHS Trust), Peter W. Collins(St Thomas' Hospital), Robin Condliffe(University of Ulster), H. Terence Cook(University of Cambridge), Stuart A. Cook(Newcastle upon Tyne Hospitals NHS Foundation Trust), Victoria Cookson(King's College London), Nichola Cooper(Cambridge University Hospitals NHS Foundation Trust), Paul A. Corris(University of Cambridge), Amanda Creaser-Myers(Royal Brompton & Harefield NHS Foundation Trust), Abigail Crisp-Hihn(University of Cambridge), Nicola Curry(University of Cambridge), Antony J. Cutler(Nottingham University Hospitals NHS Trust), Rosa da Penha Ferreira da Costa(University of Cambridge), Cesare Danesino(University of Liverpool), Matthew J. Daniels(St. James's Hospital), Damaris Darby(University of Cambridge), Louise C. Daugherty(Sheffield Teaching Hospitals NHS Foundation Trust), E. Graham Davies(St Thomas' Hospital), Sophie Davies(University Hospital of Wales), John Davis(Salford Royal NHS Foundation Trust), Godelieve J. de Bree(Colchester Hospital), Sarah Deacock(Newcastle upon Tyne Hospitals NHS Foundation Trust), Patrick Deegan(The University of Western Australia), Sri V. V. Deevi(University of Cambridge), John Dempster, Timothy Dent(Manchester University NHS Foundation Trust), Charu Deshpande(East Kent Hospitals University NHS Foundation Trust), Lisa Devlin(Hampshire Hospitals NHS Foundation Trust), Eleanor Dewhurst(Assistance Publique – Hôpitaux de Paris), Anand Dixit(MRC Biostatistics Unit), Peter Dixon(Sorbonne Université), Rainer Döffinger(Wellcome Sanger Institute), Helen Dolling(Leeds Teaching Hospitals NHS Trust), Natalie Dormand(University of Cambridge), Kate Downes(Guy's and St Thomas' NHS Foundation Trust), Anna M. Drazyk(University of Cambridge), Elizabeth Drewe(University of Cambridge), Daniel Duarte(University of Cambridge), Tina Dutt(KU Leuven), David Edgar(Trinity College Dublin), Karen Edwards(Beth Israel Deaconess Medical Center), William Egner(University College London), Melanie N. Ekani(Justus-Liebig-Universität Gießen), Tariq El‐Shanawany(London North West Healthcare NHS Trust), Shuayb Elkhalifa(Great Ormond Street Hospital), Tony Elston(Cambridge University Hospitals NHS Foundation Trust), Ingrid Emmerson(Northwick Park Hospital), Wendy N. Erber(Imperial College London), Marie Erwood(Policlinico San Matteo Fondazione), Maria C. Estiú(Imperial College London), D. Gareth Evans(Barts Health NHS Trust), Gillian Evans(Imperial College London), Tamara Everington(University Hospital Southampton NHS Foundation Trust), Mélanie Eyries(Great Ormond Street Hospital), James H. R. Farmery(Inserm), Rémi Favier(Chelsea and Westminster Hospital NHS Foundation Trust), Helen V. Firth(Great Ormond Street Hospital for Children NHS Foundation Trust), Maggie Fitzpatrick(NHS Blood and Transplant), Debra Fletcher(University Hospitals of North Midlands NHS Trust), Frances Flinter(Hull and East Yorkshire Hospitals NHS Trust), James C. Fox(Great Ormond Street Hospital for Children NHS Foundation Trust), Amy Frary(Salford Royal NHS Foundation Trust), Courtney E. French(University of Cambridge), Kathleen Freson(University of Cambridge), Mattia Frontini(MRC Biostatistics Unit), Bruce Furie(Newcastle upon Tyne Hospitals NHS Foundation Trust), Daniel P. Gale(University of Liverpool), Henning Gall(Universitätsmedizin Greifswald), Alice Gardham(University of Perugia), H. Bobby Gaspar(Newcastle University), Michael Gattens(University Hospital of Wales), Neeti Ghali(Barts Health NHS Trust), Pavandeep Ghataorhe(University of Cambridge), Stefano Ghio(University Hospitals Birmingham NHS Foundation Trust), Hossein-Ardeschir Ghofrani(King's College Hospital NHS Foundation Trust), Rohit Ghurye(University of Cambridge), J. Simon R. Gibbs(NHS Greater Glasgow and Clyde), Rodney D. Gilbert(Women's and Children's Hospital), Kimberly Gilmour(University of Cambridge), Barbara Girerd(Nottingham University Hospitals NHS Trust), Joanna Girling(University of Cambridge), Paul Gissen(University of Cambridge), Nicholas Gleadall(NHS Blood and Transplant), Sarah Goddard(University Hospitals of North Midlands NHS Trust), Pavels Gordins(Hull and East Yorkshire Hospitals NHS Trust), Kathleen M. Gorman(University Hospitals Birmingham NHS Foundation Trust), David Gosal(St Thomas' Hospital), Stefan Gräf(St Thomas' Hospital), Luigi Grassi(Barts Health NHS Trust), Daniel Greene(University of Cambridge), Alan Greenhalgh(Epsom and St Helier University Hospitals NHS Trust), Lynn Greenhalgh(Maastricht University Medical Centre), Andreas Greinacher(University Hospital of Wales), Paolo Gresele(Newcastle upon Tyne Hospitals NHS Foundation Trust), Philip G. Griffiths(Great Ormond Street Hospital for Children NHS Foundation Trust), S. W. Griffiths(Cambridge University Hospitals NHS Foundation Trust), Sofia Grigoriadou(Barts Health NHS Trust), Detelina Grozeva(Salford Royal NHS Foundation Trust), Scott Hackett(University of Cambridge), Robert D. M. Hadden(Birmingham Women’s and Children’s NHS Foundation Trust), Charaka Hadinnapola(Cambridge University Hospitals NHS Foundation Trust), Rosie Hague(St Thomas' Hospital), William M. Hague(Newcastle University), Matthias Haimel(University College London), Matthew D. Hall(Amsterdam UMC Location Vrije Universiteit Amsterdam), Csaba Halmagyi(Imperial College London), Tracey Hammerton(University of Cambridge), Helen Hanson(Newcastle University), Kirsty Harkness(Lancashire Teaching Hospitals NHS Foundation Trust), Andrew R. Harper(Manchester University NHS Foundation Trust), Lorraine Harper(Amsterdam UMC Location Vrije Universiteit Amsterdam), Claire L. Harris, Claire Harrison(Inserm), Daniel Hart(Great Ormond Street Hospital for Children NHS Foundation Trust), Ahamad Hassan(Golden Jubilee National Hospital), Grant Hayman(Guy's and St Thomas' NHS Foundation Trust), Johan W. M. Heemskerk(University of Cambridge), Shivaram Hegde(Lister Hospital), Alex Henderson(Chelsea and Westminster Hospital NHS Foundation Trust), Robert H. Henderson(Newcastle University), Anke Hensiek(University Hospital of Wales), Yvonne Henskens(University of Cambridge), Archana Herwadkar(Imperial College Healthcare NHS Trust), Joshua Hodgson(Barts Health NHS Trust), Jonathan Hoffman(St Thomas' Hospital), Simon Holden(Moorfields Eye Hospital NHS Foundation Trust), Muriel Holder(Royal Surrey County Hospital), Rita Horváth(Royal Free London NHS Foundation Trust), Henry Houlden(Cambridge University Hospitals NHS Foundation Trust), Arjan C. Houweling(University College London Hospitals NHS Foundation Trust), Luke Howard(Southampton General Hospital), Fengyuan Hu(Churchill Hospital), Gavin Hudson(Chelsea and Westminster Hospital), Sean Hughes(Cambridge University Hospitals NHS Foundation Trust), Stephen Hughes(University of Cambridge), Anna E. Huis in ‘t Veld(Golden Jubilee National Hospital), Aarnoud Huissoon(University Hospitals Birmingham NHS Foundation Trust), Marc Humbert(Royal Hallamshire Hospital), Matthew E. Hurles(University of Cambridge), Jane A. Hurst(Leeds General Infirmary), Val Irvine(Great Ormond Street Hospital for Children NHS Foundation Trust), Louise Izatt(University of Cambridge), Roger James(Birmingham Women's Hospital), Praveen Jeevaratnam(University of Cambridge), Mark S. Johnson(Medical University of Graz), Sally Johnson(King's College London), Stephen Jolles(University of Cambridge), Jennifer D. Jolley(Cambridge University Hospitals NHS Foundation Trust), Bryony Jones(University of Amsterdam), Julie R. Jones(Great Ormond Street Hospital for Children NHS Foundation Trust), Dragana Josifova(Cambridge University Hospitals NHS Foundation Trust), Neringa Jurkutė(Great Ormond Street Hospital for Children NHS Foundation Trust), Mohammed Yousuf Karim(Barts Health NHS Trust), Mahantesh A. Karoshi(Imperial College Healthcare NHS Trust), Mary Kasanicki(St Mary's Hospital), Hanadi Kazkaz(University of Pennsylvania), Rashid Kazmi(University of Cambridge), David Keeling(Royal Sussex County Hospital), Peter Kelleher(University of Sheffield), Anne M. Kelly(Imperial College Healthcare NHS Trust), Carly Kempster(Cambridge University Hospitals NHS Foundation Trust), Fiona Kennedy(Great Ormond Street Hospital for Children NHS Foundation Trust), Sorena Kiani(Imperial College Healthcare NHS Trust), David G. Kiely(University College London), Nathalie Kingston(Leeds Teaching Hospitals NHS Trust), Sally E. Kinsey(University of Cambridge), Nigel Klein(Great Ormond Street Hospital for Children NHS Foundation Trust), Robert Klima(University of Cambridge), Ellen Knox(University of Cambridge), Myrto Kostadima(Barts Health NHS Trust), Gábor Kovács(Barts Health NHS Trust), Ania Koziell(University of Oxford), Roman Kreuzhuber(University of Cambridge), Deepa Krishnakumar(Newcastle upon Tyne Hospitals NHS Foundation Trust), Taco W. Kuijpers(St George's, University of London), Ajith Kumar(Royal United Hospital Bath NHS Trust), Dinakantha Kumararatne(University of Cambridge), Manju A. Kurian(Moorfields Eye Hospital NHS Foundation Trust), James Laffan(Guy's and St Thomas' NHS Foundation Trust), Michael Laffan(King's College London), Fiona Lalloo(King's College Hospital NHS Foundation Trust), Michele P. Lambert(University of Cambridge), Hana Lango Allen(NHS Blood and Transplant), Sarah Lawman(Royal Hallamshire Hospital), Allan Lawrie(Hampshire Hospitals NHS Foundation Trust), D. Mark Layton(Cambridge University Hospitals NHS Foundation Trust), Sara Lear(Great Ormond Street Hospital for Children NHS Foundation Trust), Melissa Lees(University of Cambridge), Claire Lentaigne(Newcastle University), Adam P. Levine(Queen Elizabeth University Hospital), Andrew Lewington(Great Ormond Street Hospital for Children NHS Foundation Trust), Wei Li(University of Cambridge), Ri Liesner(University of Gothenburg), Rachel Linger(University of Cambridge), Bin Liu(University of Cambridge), Hilary Longhurst(Imperial College London), Lorena Lorenzo(Great Ormond Street Hospital for Children NHS Foundation Trust), Eleni Louka(University of Cambridge), Silvia Lucato Hadeler(University College London Hospitals NHS Foundation Trust), Paul Lyons(University of Cambridge), Malcolm MacDougall(NHS Greater Glasgow and Clyde), Rajiv D. Machado(Newcastle University), Robert V. MacKenzie Ross(University of Oxford), Lucy Mackillop(Nottingham University Hospitals NHS Trust), Robert E. MacLaren(University of Oxford), Bella Madan(University of Cambridge), Laura A. Magee(University of Cambridge), Mohamed Mahdi-Rogers(University of Cambridge), Eamonn R. Maher(University of Oxford), Jesmeen Maimaris(University of Cambridge), Mike Makris(Imperial College London), Sarah Mangles(University of Cambridge), Ania Manson(Cambridge University Hospitals NHS Foundation Trust), Adnan Manzur(Southampton General Hospital), Rutendo Mapeta(Moorfields Eye Hospital NHS Foundation Trust), Kevin J. Marchbank(Oxford University Hospitals NHS Trust), Patrick B. Mark(Birmingham Children's Hospital), Stephen D. Marks(Imperial College Healthcare NHS Trust), Hugh S. Markus(NHS Greater Glasgow and Clyde), Hanns–Ulrich Marschall(Leeds Teaching Hospitals NHS Trust), Andrew Marshall(Maastricht University Medical Centre), Jennifer M. Martin(Great Ormond Street Hospital for Children NHS Foundation Trust), Larahmie Masati(Inserm), Mary Mathias(Moorfields Eye Hospital NHS Foundation Trust), Vera Matser(Royal Devon & Exeter NHS Foundation Trust), Emma Matthews(University of Cambridge), Anna Maw(Cambridge University Hospitals NHS Foundation Trust), Heather Maxwell(University College London), Paul McAlinden(University of Glasgow), Mark I. McCarthy(University of Bristol), Elizabeth McDermott(NHS Greater Glasgow and Clyde), Simon J. McGowan(Barts Health NHS Trust), Coleen McJannet(University of Cambridge), Harriet McKinney(Papworth Hospital NHS Foundation Trust), Stuart Meacham(Great Ormond Street Hospital for Children NHS Foundation Trust), Adam J. Mead(Great Ormond Street Hospital for Children NHS Foundation Trust), Ignacio Medina Castello(Sandwell & West Birmingham Hospitals NHS Trust), Sharon Meehan(Imperial College Healthcare NHS Trust), Karyn Mégy(University of Cambridge), Sarju Mehta(Guy's and St Thomas' NHS Foundation Trust), Catherine L. Mercer(University Hospital of Wales), Michel Michaelides(University of Oxford), Anna C. Michell(Délégation Paris 7), David V. Milford(Ludwig Boltzmann Institute for Lung Vascular Research), Carolyn M. Millar(Medical University of Graz), Hazel Millar(Sheffield Teaching Hospitals NHS Foundation Trust), Anoop Mistry(Birmingham Women’s and Children’s NHS Foundation Trust), Floor CJI Moenen(University Hospital Southampton NHS Foundation Trust), Shahin Moledina(Oxford University Hospitals NHS Trust), David Montani(Imperial College London), Anthony T. Moore(Royal Brompton & Harefield NHS Foundation Trust), Jason H. Moore(University of Cambridge), Nicholas W. Morrell(Great Ormond Street Hospital for Children NHS Foundation Trust), Valerie Morrisson(Cambridge University Hospitals NHS Foundation Trust), Monika Mozere(Cambridge University Hospitals NHS Foundation Trust), Keith W. Muir(Institute of Genetics and Cancer), Andrew Mumford(Oxford University Hospitals NHS Trust), Sai Murng(Royal London Hospital), Iman Nasir(University of Cambridge), Sergey Nejentsev(Sheffield Children's NHS Foundation Trust), Michael Newnham(Golden Jubilee National Hospital), Joanne Ng(KU Leuven), Adeline Ngoh(University of Cambridge), Sadia Noorani(Papworth Hospital NHS Foundation Trust), Muna Noori(Cambridge University Hospitals NHS Foundation Trust), Paquita Nurden(University of Cambridge), Jennifer O’Sullivan(King's College Hospital NHS Foundation Trust), Samya Obaji(NHS Greater Glasgow and Clyde), Steven Okoli(Papworth Hospital NHS Foundation Trust), Éric Oksenhendler(University Hospital of Wales), Andrea Olschewski(Imperial College London), Horst Olschewski(Imperial College London), Albert Ong(University of Oxford), Kai Ren Ong(Newcastle University), S. Oram(Great Ormond Street Hospital for Children NHS Foundation Trust), Elizabeth Ormondroyd(Great Ormond Street Hospital for Children NHS Foundation Trust), Shokri Othman(Sapienza University of Rome), Willem H. Ouwehand(NHS Blood and Transplant), Antonis Pantazis(Imperial College London), Sofia Papadia(Royal Devon & Exeter NHS Foundation Trust), Apostolos Papandreou(University of Cambridge), Soo‐Mi Park(Great Ormond Street Hospital for Children NHS Foundation Trust), Alasdair Parker(University of Cambridge), David Parry(University of Cambridge), Georgina Parsons(University of Cambridge), John Pasi(University of Cambridge), Joan Paterson(University College London), Jeanette H. Payne(King's College Hospital NHS Foundation Trust), Andrew J. Peacock(Shaare Zedek Medical Center), Kathelijne Peerlinck(Imperial College London), Christopher J. Penkett(University of Cambridge), Joanna Pepke‐Żaba(Sheffield Teaching Hospitals NHS Foundation Trust), David J. Perry(Leeds Teaching Hospitals NHS Trust), R. Petersen(MRC Biostatistics Unit), Bartłomiej Piechowski‐Jóźwiak(University Hospitals Birmingham NHS Foundation Trust), Fernando Pinto(Guy's and St Thomas' NHS Foundation Trust), Gary Polwarth(University of Oxford), Mark Ponsford(University of Utah), Sanjay Prasad(Great Ormond Street Hospital for Children NHS Foundation Trust), Inga Prokopenko(University of Oxford), Beth Psaila(East Kent Hospitals University NHS Foundation Trust), Angela Pyle(University of Oxford), Waseem Qasim(Imperial College London), Ellie Quinn(University College London), Isabella Quinti(University of Bristol), Sanjay Raina(University of Cambridge), Lavanya Ranganathan(University of Leicester), Julia Rankin(University of Cambridge), Stuart Rankin(University of Cambridge), Anupama Rao(University of Cambridge), F. Lucy Raymond(Cambridge University Hospitals NHS Foundation Trust), Paula Rayner-Matthews(University of Cambridge), Karola Rehnström(University of Sheffield), Evan Reid(University of Bristol), Mary M. Reilly(Policlinico San Matteo Fondazione), Tara Renton(Amsterdam UMC Location Vrije Universiteit Amsterdam), Shoshana Revel‐Vilk(Beth Israel Deaconess Medical Center), Christopher J. Rhodes(Universitätsklinikum Würzburg), Andrew S.C. Rice(Queen Mary University of London), Emma E. Richards(University College London Hospitals NHS Foundation Trust), Mike Richards(Nottingham University Hospitals NHS Trust), Sylvia Richardson(Justus-Liebig-Universität Gießen), Alex Richter(Royal Free London NHS Foundation Trust), Leema Robert(Scunthorpe General Hospital), Irene Roberts(University of Cambridge), Matthew T. Rondina(Sheffield Teaching Hospitals NHS Foundation Trust), Elisabeth Rosser(University of Cambridge), Peter M. Rothwell(Oxford BioMedica (United Kingdom)), Catherine Roughley(Royal Holloway University of London), Noémi Roy(Epsom and St Helier University Hospitals NHS Trust), Kévin Rue-Albrecht(Newcastle upon Tyne Hospitals NHS Foundation Trust), Omid Sadeghi‐Alavijeh(Kaplan Medical Center), Moin A. Saleem(Great Ormond Street Hospital for Children NHS Foundation Trust), Richard M. Salmon(University Hospital Southampton NHS Foundation Trust), Nilesh J. Samani(University of Cambridge), Crina Samarghitean(King's College London), Jennifer G. Sambrook(Churchill Hospital), Alba Sanchis‐Juan(NHS Blood and Transplant), Richard Sandford(Barts Health NHS Trust), Saikat Santra(Aarhus University Hospital), Ravishankar Sargur(St George’s University Hospitals NHS Foundation Trust), Simon C. Satchell(Newcastle University), Sinisa Savic(St James's University Hospital), Laura Scelsi(Assistance Publique – Hôpitaux de Paris), Gwen Schotte(St George's, University of London), Sol Schulman(Papworth Hospital NHS Foundation Trust), Harald Schulze(Newcastle upon Tyne Hospitals NHS Foundation Trust), Richard H. Scott(University of Cambridge), Marie Scully(University of Cambridge), Claire Searle(University of Cambridge), Werner Seeger(Royal Free London NHS Foundation Trust), Suranjith L. Seneviratne(Royal Free London NHS Foundation Trust), William A. Sewell(University of Cambridge), Denis Seyres(King's College Hospital NHS Foundation Trust), Fiona Shackley(University of Cambridge), Olga Shamardina(University of Cambridge), Susan Shapiro(University of Cambridge), Pankaj Sharma(Imperial College Healthcare NHS Trust), Hassan Shehata(Royal United Hospital Bath NHS Trust), Deborah Shipley(University of Cambridge), Rakefet Chen‐Shtoyerman(Cambridge University Hospitals NHS Foundation Trust), Keith Sibson(NHS Greater Glasgow and Clyde), Lucy Side(Royal Victoria Infirmary), Ilenia Simeoni(University of Cambridge), Michael A. Simpson(Aberdeen Royal Infirmary), Matthew C. Sims(National Health Service), Manish D. Sinha(University of Cambridge), Suthesh Sivapalaratnam(John Radcliffe Hospital), Anne‐Bine Skytte(University of Cambridge), Kenneth G. C. Smith(St Thomas' Hospital), Katie Snape(NHS Greater Glasgow and Clyde), Linda Sneddon(University of Cambridge), Aman Sohal(Great Ormond Street Hospital for Children NHS Foundation Trust), Florent Soubrier(Oxford University Hospitals NHS Trust), Laura Southgate(KU Leuven), Mark Southwood(University of Cambridge), Miranda Splitt(Cambridge University Hospitals NHS Foundation Trust), Simon Staines(University of Cambridge), Emily Staples(Centre for Human Genetics), Hannah Stark(University of Liverpool), Hans J. Stauss(Sanquin), Cathal Steele(Papworth Hospital NHS Foundation Trust), Dan J. Stein(University of Cambridge), Penelope E. Stein(Papworth Hospital NHS Foundation Trust), Jonathan Stephens(NHS Blood and Transplant), Kathleen Stirrups(King's College London), Sophie Stock(St George’s University Hospitals NHS Foundation Trust), Matthew Stubbs(University of Cambridge), Jay Suntharalingam(University of Cambridge), Emilia M. Swietlik(University of Cambridge), Emily Symington(University of Cambridge), Robert C. Tait(John Radcliffe Hospital), Kate Talks(KU Leuven), Rhea Tan(John Radcliffe Hospital), Gordon Taylor(Dalhousie University), Jecko Thachil(Imperial College Healthcare NHS Trust), James Thaventhiran(University of Cambridge), Andreas C. Themistocleous(Birmingham Women’s and Children’s NHS Foundation Trust), David Thomas(University of Cambridge), Ellen Thomas(Amsterdam UMC Location Vrije Universiteit Amsterdam), Moira Thomas(NHS Greater Glasgow and Clyde), Patrick Thomas(Maastricht University Medical Centre), Dorothy Thompson(London North West Healthcare NHS Trust), Kate Thomson(University of Cambridge), Adrian J. Thrasher(Great Ormond Street Hospital), Chantal Thys(Royal Brompton & Harefield NHS Foundation Trust), Tobias Tilly(Imperial College London), Marc Tischkowitz(Royal Brompton & Harefield NHS Foundation Trust), Catherine Titterton(Barts Health NHS Trust), John A. Todd(Birmingham Children's Hospital), Cheng‐Hock Toh(Oxford University Hospitals NHS Trust), Anton T. J. Tool(Aberdeen Royal Infirmary), Mark Toshner(University of Cambridge), Matthew Traylor(Leeds Teaching Hospitals NHS Trust), Carmen Treacy(Manchester University NHS Foundation Trust), Paul Treadaway(University College London), Richard C. Trembath(University of Cambridge), Sarah Trippier(University of Glasgow), Salih Tuna(University Hospitals Birmingham NHS Foundation Trust), Wojciech Turek(University College London Hospitals NHS Foundation Trust), Ernest Turro(NHS Blood and Transplant), Paul D. Upton(University of Bristol), Rafał Urniaż(University College London Hospitals NHS Foundation Trust), Tom Vale(Imperial College London), Chris Van Geet(University of Cambridge), Natalie R. van Zuydam(NIHR Cambridge Biomedical Research Centre), Anthony M. Vandersteen(Imperial College London), Marta Vazquez‐Lopez(Cambridge University Hospitals NHS Foundation Trust), Marijcke W. M. Veltman(University College London Hospitals NHS Foundation Trust), Julie Vogt(King's College London), Julie von Ziegenweidt(Newcastle upon Tyne Hospitals NHS Foundation Trust), Anton Vonk Noordegraaf(University College London), Ajay Vora(University of Cambridge), Minka J. A. Vries(University of Cambridge), Emma Wakeling(St Mary's Hospital), Neil Walker(Royal Free London NHS Foundation Trust), Suellen M. Walker(Royal Brompton & Harefield NHS Foundation Trust), Roddy Walsh(Great Ormond Street Hospital for Children NHS Foundation Trust), Ivy Wanjiku(University of Cambridge), James S. Ware(Barts Health NHS Trust), Timothy Q. Warner(Frimley Health NHS Foundation Trust), Evangeline Wassmer(University of Cambridge), Hugh Watkins(University of Cambridge), Henry G. Watson(University of Cambridge), Christopher D. Watt(University of Cambridge), Dean Waugh(University of Cambridge), Nick Webb(Wellcome Sanger Institute), Andrew R. Webster(NIHR Leeds Musculoskeletal Biomedical Research Unit), Wei Wei(Royal Free London NHS Foundation Trust), Angela Welch(Sanquin), Steven Welch(MRC Biostatistics Unit), David J. Werring(Wellcome Sanger Institute), Julie Wessels(Great Ormond Street Hospital for Children NHS Foundation Trust), Sarah K. Westbury(University of Cambridge), John-Paul W. Westwood, John Wharton, Deborah Whitehorn, James Whitworth, Martin R. Wilkins, Lisa Willcocks, David Williams, Catherine Williamson, Edwin Wong, Nicholas Wood, Yvette Wood, C. Geoffrey Woods, Emma R. Woodward, Sarita Workman, Stephen J. Wort, Austen Worth(Great Ormond Street Hospital), Katherine Yates, Nigel Yeatman, Patrick Yong, Timothy M. Young, Ping Yu, Patrick Yu‐Wai‐Man, Eliska Zlamalova, Paul Lyons(University of Cambridge), Matthew E. Hurles(Wellcome Sanger Institute), Sinisa Savic(St James's University Hospital), Siobhan O. Burns(Royal Free London NHS Foundation Trust), Taco W. Kuijpers(Sanquin), Ernest Turro(NHS Blood and Transplant), Willem H. Ouwehand(NHS Blood and Transplant), Adrian J. Thrasher(Great Ormond Street Hospital), Kenneth G. C. Smith(Cambridge School)

Nature

May 6, 2020

10.1038/s41586-020-2265-1

Cited by 241Open Access

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