Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro; William J. Astle; Karyn Mégy; Stefan Gräf; Daniel Greene; Olga Shamardina; Hana Lango Allen; Alba Sanchis‐Juan; Mattia Frontini; Chantal Thys; Jonathan Stephens; Rutendo Mapeta; Oliver S. Burren; Kate Downes; Matthias Haimel; Salih Tuna; Sri V. V. Deevi; Timothy J. Aitman; David Bennett; Paul Calleja; Keren Carss; Mark J. Caulfield; Patrick F. Chinnery; Peter Dixon; Daniel P. Gale; Roger James; Ania Koziell; Michael A. Laffan; Adam P. Levine; Eamonn R. Maher; Hugh S. Markus; Joannella Morales; Nicholas W. Morrell; Andrew Mumford; Elizabeth Ormondroyd; Stuart Rankin; Augusto Rendon; Sylvia Richardson; Irene Roberts; Noémi Roy; Moin A. Saleem; Kenneth G. C. Smith; Hannah Stark; Rhea Tan; Andreas C. Themistocleous; Adrian J. Thrasher; Hugh Watkins; Andrew R. Webster; Martin R. Wilkins; Catherine Williamson; James Whitworth; Sean Humphray; David R. Bentley; NIHR BioResource for the 100,000 Genomes Project; Stephen Abbs; Lara Abulhoul; Julian Adlard; Munaza Ahmed; Timothy J. Aitman; Hana Alachkar; David Allsup; J. P. Almeida; Philip Ancliff; Richard Antrobus; Ruth Armstrong; Gavin Arno; Sofie Ashford; William J. Astle; Anthony Attwood; Paul Aurora; Christian Babbs; Chiara Bacchelli; Tamam Bakchoul; Siddharth Banka; Tadbir K. Bariana; Julian Barwell; Joana Batista; Helen Baxendale; Phil Beales; David Bennett; David R. Bentley; Agnieszka Bierżyńska; Tina Biss; Maria Bitner‐Glindzicz; Graeme C. Black; Marta Bleda; Iulia Blesneac; Detlef Böckenhauer; Harm Jan Bogaard; Christian Bourne; Sara Boyce; John R. Bradley; Eugene Bragin; Gerome Breen; Paul Brennan; Carole Brewer; Matthew A. Brown; Andrew C. Browning; Michael J. Browning; Rachel Buchan; Matthew Buckland; Teofila Bueser; Carmen Bugarin Diz; John Burn; Siobhan O. Burns; Oliver S. Burren; Nigel Burrows; Paul Calleja; Carolyn Campbell; Gerald Carr‐White; Keren Carss; Ruth Casey; Mark J. Caulfield; Jenny Chambers; John C. Chambers; Melanie Chan; Calvin Cheah; Floria Cheng; Patrick F. Chinnery; Manali Chitre; Martin Christian; Colin Church; Jill Clayton‐Smith; Maureen Cleary; Naomi Clements Brod; Gerry Coghlan; Elizabeth Colby; Trevor Cole; Janine Collins; Peter W. Collins; Camilla Colombo; Cecilia Compton; Robin Condliffe; Stuart A. Cook; H. Terence Cook; Nichola Cooper; Paul A. Corris; Abigail Furnell; Fiona Cunningham; Nicola Curry; Antony J. Cutler; Matthew J. Daniels; Mehul Dattani; Louise C. Daugherty; John Davis; Anthony De Soyza; Sri V. V. Deevi; Timothy Dent; Charu Deshpande; Eleanor Dewhurst; Peter Dixon; Sofia Douzgou; Kate Downes; Anna M. Drazyk; Elizabeth Drewe; Daniel Duarte; Tina Dutt; David Edgar; Karen L. Edwards; William Egner; Melanie N. Ekani; Perry Elliott; Wendy N. Erber; Marie Erwood; Maria C. Estiú; D. Gareth Evans; Gillian Evans; Tamara Everington; Mélanie Eyries; Hiva Fassihi; Rémi Favier; Jack Findhammer; Debra Fletcher; Frances Flinter; R. Andrés Floto; Tom Fowler; James Fox; Amy Frary; Courtney E. French; Kathleen Freson; Mattia Frontini; Daniel P. Gale; Henning Gall; Vijeya Ganesan; Michael Gattens; Claire Geoghegan; Terence S. A. Gerighty; Ali G. Gharavi; Stefano Ghio; Hossein-Ardeschir Ghofrani; J. Simon R. Gibbs; Kate Gibson; Kimberly Gilmour; Barbara Girerd; Nicholas Gleadall; Sarah Goddard; David B. Goldstein; Keith Gomez; Pavels Gordins; David Gosal; Stefan Gräf; Jodie Graham; Luigi Grassi; Daniel Greene; Lynn Greenhalgh; Andreas Greinacher; Paolo Gresele; Philip G. Griffiths; Sofia Grigoriadou; Russell Grocock; Detelina Grozeva; Mark Gurnell; Scott Hackett; Charaka Hadinnapola; William M. Hague; Rosie Hague; Matthias Haimel; Matthew Hall; Helen Hanson; Eshika Haque; Kirsty Harkness; Andrew R. Harper; Claire L. Harris; Daniel P. Hart; Ahamad Hassan; Grant Hayman; Alex Henderson; Archana Herwadkar; Jonathan Hoffman; Simon Holden; Rita Horváth; Henry Houlden; Arjan C. Houweling; Luke Howard; Fengyuan Hu; Gavin Hudson; Joseph Hughes; Aarnoud Huissoon; Marc Humbert; Sean Humphray; Sarah Hunter; Matthew E. Hurles; Melita Irving; Louise Izatt; Roger James; Sally Johnson; Stephen Jolles; Jennifer Jolley; Dragana Josifova; Neringa Jurkutė; Tim Karten; Johannes Karten; Mary Kasanicki; Hanadi Kazkaz; Rashid Kazmi; Peter Kelleher; Anne M. Kelly; Wilf Kelsall; Carly Kempster; David G. Kiely; Nathalie Kingston; Robert Klima; Nils Koelling; Myrto Kostadima; Gábor Kovács; Ania Koziell; Roman Kreuzhuber; Taco W. Kuijpers; Ajith Kumar; Dinakantha Kumararatne; Manju A. Kurian; Michael A. Laffan; Fiona Lalloo; Michele P. Lambert; Hana Lango Allen; Allan Lawrie; D. Mark Layton; Nicholas Lench; Claire Lentaigne; Tracy Lester; Adam P. Levine; Rachel Linger; Hilary Longhurst; Lorena Lorenzo; Eleni Louka; Paul Lyons; Rajiv D. Machado; Robert V. MacKenzie Ross; Bella Madan; Eamonn R. Maher; Jesmeen Maimaris; Samantha Malka; Sarah Mangles; Rutendo Mapeta; Kevin J. Marchbank; Stephen D. Marks; Hugh S. Markus; Hanns–Ulrich Marschall; Andrew Marshall; Jennifer M. Martin; Mary Mathias; Emma Matthews; Heather Maxwell; Paul McAlinden; Mark I. McCarthy; Harriet McKinney; Aoife McMahon; Stuart Meacham; Adam J. Mead; Ignacio Medina Castello; Karyn Mégy; Sarju Mehta; Michel Michaelides; Carolyn M. Millar; Shehla Mohammed; Shahin Moledina; David Montani; Anthony T. Moore; Joannella Morales; Nicholas W. Morrell; Monika Mozere; Keith W. Muir; Andrew Mumford; Andrea H. Németh; William G. Newman; Michael Newnham; Sadia Noorani; Paquita Nurden; Jennifer O’Sullivan; Samya Obaji; Chris A. Odhams; Steven Okoli; Andrea Olschewski; Horst Olschewski; Kai Ren Ong; S. Oram; Elizabeth Ormondroyd; Willem H. Ouwehand; Claire Palles; Sofia Papadia; Soo‐Mi Park; David Parry; Smita Y. Patel; Joan Paterson; Andrew J. Peacock; Simon H. S. Pearce; John F. Peden; Kathelijne Peerlinck; Christopher J. Penkett; Joanna Pepke‐Żaba; R. Petersen; Clarissa Pilkington; Kenneth Poole; Radhika Prathalingam; Bethan Psaila; Angela Pyle; Richard Quinton; Shamima Rahman; Stuart Rankin; Anupama Rao; F. Lucy Raymond; Paula Rayner-Matthews; Christine A. Rees; Augusto Rendon; Tara Renton; Christopher J. Rhodes; Andrew S.C. Rice; Sylvia Richardson; Alex Richter; Leema Robert; Irene Roberts; Anthony S. Rogers; Sarah J. Rose; Robert Ross‐Russell; Catherine Roughley; Noémi Roy; Deborah Ruddy; Omid Sadeghi‐Alavijeh; Moin A. Saleem; Nilesh J. Samani; Crina Samarghitean; Alba Sanchis‐Juan; Ravishankar Sargur; Robert N. Sarkany; Simon C. Satchell; Sinisa Savic; John A. Sayer; Genevieve Sayer; Laura Scelsi; Andrew M. Schaefer; Sol Schulman; Richard H. Scott; Marie Scully; Claire Searle; Werner Seeger; Arjune Sen; William A. Sewell; Denis Seyres; Neil V. Shah; Olga Shamardina; Susan Shapiro; Adam Shaw; Patrick Short; Keith Sibson; Lucy Side; Ilenia Simeoni; Michael A. Simpson; Matthew C. Sims; Suthesh Sivapalaratnam; Damian Smedley; Katherine R. Smith; Kenneth G. C. Smith; Katie Snape; Nicole Soranzo; Florent Soubrier; Laura Southgate; Olivera Spasić-Bošković; Simon Staines; Emily Staples; Hannah Stark; Jonathan Stephens; Charles A. Steward; Kathleen Stirrups; Alexander Stuckey; Jay Suntharalingam; Emilia M. Swietlik; Petros Syrris; Robert C. Tait; Kate Talks; Rhea Tan; Katie Tate; John Taylor; Jenny C. Taylor; James E. Thaventhiran; Andreas C. Themistocleous; Ellen Thomas; David Thomas; Moira Thomas; Patrick Thomas; Kate Thomson; Adrian J. Thrasher; Glen Threadgold; Chantal Thys; Tobias Tilly; Marc Tischkowitz; Catherine Titterton; John A. Todd; Cheng‐Hock Toh; Bas Tolhuis; Ian Tomlinson; Mark Toshner; Matthew Traylor; Carmen Treacy; Paul Treadaway; Richard C. Trembath; Salih Tuna; Wojciech Turek; Ernest Turro; Philip Twiss; Tom Vale; Chris Van Geet; Natalie R. van Zuydam; Maarten Vandekuilen; Anthony M. Vandersteen; Marta Vazquez‐Lopez; Julie von Ziegenweidt; Anton Vonk Noordegraaf; Annette Wagner; Quinten Waisfisz; Suellen M. Walker; Neil Walker; Klaudia Walter; James S. Ware; Hugh Watkins; C. Ian F. Watt; Andrew R. Webster; Lucy R. Wedderburn; Wei Wei; Steven Welch; Julie Wessels; Sarah K. Westbury; John‐Paul Westwood; John Wharton; Deborah Whitehorn; James Whitworth; Andrew O.M. Wilkie; Martin R. Wilkins; Catherine Williamson; Brian T. Wilson; Edwin Wong; Nicholas Wood; Yvette Wood; C. Geoffrey Woods; Emma R. Woodward; Stephen J. Wort; Austen Worth; Michael Wright; Katherine Yates; Patrick Yong; Timothy M. Young; Ping Yu; Patrick Yu‐Wai‐Man; Eliska Zlamalova; Nathalie Kingston; Neil Walker; John R. Bradley; Sofie Ashford; Christopher J. Penkett; Kathleen Freson; Kathleen Stirrups; F. Lucy Raymond; Willem H. Ouwehand

doi:10.1038/s41586-020-2434-2

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro(University of Cambridge), William J. Astle(NHS Blood and Transplant), Karyn Mégy(University of Cambridge), Stefan Gräf(University of Cambridge), Daniel Greene(University of Cambridge), Olga Shamardina(King's College London), Hana Lango Allen(University of Cambridge), Alba Sanchis‐Juan(University of Cambridge), Mattia Frontini(NHS Blood and Transplant), Chantal Thys(University of Bristol), Jonathan Stephens(University of Cambridge), Rutendo Mapeta(University of Cambridge), Oliver S. Burren(University of Cambridge), Kate Downes(King's College London), Matthias Haimel(University of Cambridge), Salih Tuna(University of Cambridge), Sri V. V. Deevi(University of Cambridge), Timothy J. Aitman(Chapel Allerton Hospital), David Bennett(Great Ormond Street Hospital for Children NHS Foundation Trust), Paul Calleja(University of Cambridge), Keren Carss(University of Cambridge), Mark J. Caulfield(Queen Mary University of London), Patrick F. Chinnery(European Bioinformatics Institute), Peter Dixon(King's College London), Daniel P. Gale(University Hospitals Birmingham NHS Foundation Trust), Roger James(University of Cambridge), Ania Koziell(King's College London), Michael A. Laffan(NHS Blood and Transplant), Adam P. Levine(University of Cambridge), Eamonn R. Maher(University of Cambridge), Hugh S. Markus(University of Cambridge), Joannella Morales(European Bioinformatics Institute), Nicholas W. Morrell(University of Cambridge), Andrew Mumford(University Hospitals Bristol NHS Foundation Trust), Elizabeth Ormondroyd(Royal Free London NHS Foundation Trust), Stuart Rankin(University of Leicester), Augusto Rendon(University of Cambridge), Sylvia Richardson(University of Cambridge), Irene Roberts(Great Ormond Street Hospital for Children NHS Foundation Trust), Noémi Roy(John Radcliffe Hospital), Moin A. Saleem(University Hospitals Bristol NHS Foundation Trust), Kenneth G. C. Smith(University of Cambridge), Hannah Stark(University of Cambridge), Rhea Tan(University of Cambridge), Andreas C. Themistocleous(John Radcliffe Hospital), Adrian J. Thrasher(University of Cambridge), Hugh Watkins(Centre for Human Genetics), Andrew R. Webster(Great Ormond Street Hospital for Children NHS Foundation Trust), Martin R. Wilkins(Imperial College London), Catherine Williamson(Imperial College Healthcare NHS Trust), James Whitworth(University of Cambridge), Sean Humphray(University of Cambridge), David R. Bentley(Illumina (United Kingdom)), NIHR BioResource for the 100,000 Genomes Project(King's College London), Stephen Abbs(Newcastle upon Tyne Hospitals NHS Foundation Trust), Lara Abulhoul(Royal Devon & Exeter NHS Foundation Trust), Julian Adlard(University of Cambridge), Munaza Ahmed(Great Ormond Street Hospital for Children NHS Foundation Trust), Timothy J. Aitman(Leicester Royal Infirmary), Hana Alachkar(Royal Brompton & Harefield NHS Foundation Trust), David Allsup(Royal Free London NHS Foundation Trust), J. P. Almeida(European Bioinformatics Institute), Philip Ancliff(King's College London), Richard Antrobus(University Hospitals Birmingham NHS Foundation Trust), Ruth Armstrong(Royal Free London NHS Foundation Trust), Gavin Arno(Moorfields Eye Hospital), Sofie Ashford(University of Cambridge), William J. Astle(NHS Blood and Transplant), Anthony Attwood(University of Cambridge), Paul Aurora(St Thomas' Hospital), Christian Babbs(University of Cambridge), Chiara Bacchelli(University of Cambridge), Tamam Bakchoul(Queen Mary University of London), Siddharth Banka(King's College London), Tadbir K. Bariana(Imperial College Healthcare NHS Trust), Julian Barwell(University of Leicester), Joana Batista(University of Cambridge), Helen Baxendale(Imperial College Healthcare NHS Trust), Phil Beales(University of Cambridge), David Bennett(University of Cambridge), David R. Bentley(Nottingham University Hospitals NHS Trust), Agnieszka Bierżyńska(Golden Jubilee National Hospital), Tina Biss(Royal Victoria Infirmary), Maria Bitner‐Glindzicz(Great Ormond Street Hospital), Graeme C. Black(University of Cambridge), Marta Bleda(Royal Free London NHS Foundation Trust), Iulia Blesneac(John Radcliffe Hospital), Detlef Böckenhauer(Great Ormond Street Hospital for Children NHS Foundation Trust), Harm Jan Bogaard(University of Cambridge), Christian Bourne(Illumina (United Kingdom)), Sara Boyce(Southampton General Hospital), John R. Bradley(Guy's and St Thomas' NHS Foundation Trust), Eugene Bragin(Royal Hallamshire Hospital), Gerome Breen(King's College London), Paul Brennan(Newcastle upon Tyne Hospitals NHS Foundation Trust), Carole Brewer(Royal Devon & Exeter NHS Foundation Trust), Matthew A. Brown(University of Cambridge), Andrew C. Browning(University of Cambridge), Michael J. Browning(European Bioinformatics Institute), Rachel Buchan(Royal Brompton & Harefield NHS Foundation Trust), Matthew Buckland(Centre for Human Genetics), Teofila Bueser(King's College London), Carmen Bugarin Diz(King's College London), John Burn(University of Cambridge), Siobhan O. Burns(Royal Free London NHS Foundation Trust), Oliver S. Burren(University of Cambridge), Nigel Burrows(University of Cambridge), Paul Calleja(University of Cambridge), Carolyn Campbell(Guy's and St Thomas' NHS Foundation Trust), Gerald Carr‐White(St Thomas' Hospital), Keren Carss(King's College London), Ruth Casey(University of Cambridge), Mark J. Caulfield(Queen Mary University of London), Jenny Chambers(Imperial College Healthcare NHS Trust), John C. Chambers(Nottingham University Hospitals NHS Trust), Melanie Chan(University of Cambridge), Calvin Cheah(University of Liverpool), Floria Cheng(Imperial College Healthcare NHS Trust), Patrick F. Chinnery(University of Cambridge), Manali Chitre(University of Cambridge), Martin Christian(St Thomas' Hospital), Colin Church(Golden Jubilee National Hospital), Jill Clayton‐Smith(The University of Western Australia), Maureen Cleary(University of Cambridge), Naomi Clements Brod(University of Cambridge), Gerry Coghlan(Royal Free London NHS Foundation Trust), Elizabeth Colby(East Kent Hospitals University NHS Foundation Trust), Trevor Cole(Salisbury District Hospital), Janine Collins(Barts Health NHS Trust), Peter W. Collins(Guy's and St Thomas' NHS Foundation Trust), Camilla Colombo(Sorbonne Université), Cecilia Compton(Guy's and St Thomas' NHS Foundation Trust), Robin Condliffe(University of Cambridge), Stuart A. Cook(National University of Singapore), H. Terence Cook(University of Cambridge), Nichola Cooper(Queen Mary University of London), Paul A. Corris(University of Cambridge), Abigail Furnell(University of Cambridge), Fiona Cunningham(European Bioinformatics Institute), Nicola Curry(University of Cambridge), Antony J. Cutler(Centre for Human Genetics), Matthew J. Daniels(Justus-Liebig-Universität Gießen), Mehul Dattani(Great Ormond Street Hospital), Louise C. Daugherty(University of Cambridge), John Davis(University of Cambridge), Anthony De Soyza(Newcastle upon Tyne Hospitals NHS Foundation Trust), Sri V. V. Deevi(University of Cambridge), Timothy Dent(Oxford University Hospitals NHS Trust), Charu Deshpande(Guy's and St Thomas' NHS Foundation Trust), Eleanor Dewhurst(University of Cambridge), Peter Dixon(King's College London), Sofia Douzgou(Great Ormond Street Hospital), Kate Downes(Université Paris-Sud), Anna M. Drazyk(University of Cambridge), Elizabeth Drewe(Nottingham University Hospitals NHS Trust), Daniel Duarte(University of Cambridge), Tina Dutt(University of Liverpool), David Edgar(Trinity College Dublin), Karen L. Edwards(University of Cambridge), William Egner(University of Cambridge), Melanie N. Ekani(St Thomas' Hospital), Perry Elliott(St Bartholomew's Hospital), Wendy N. Erber(The University of Western Australia), Marie Erwood(University of Liverpool), Maria C. Estiú(Universitätsmedizin Greifswald), D. Gareth Evans(University of Perugia), Gillian Evans(East Kent Hospitals University NHS Foundation Trust), Tamara Everington(Barts Health NHS Trust), Mélanie Eyries(Inserm), Hiva Fassihi(Guy's and St Thomas' NHS Foundation Trust), Rémi Favier(University of Cambridge), Jack Findhammer(University Hospitals Birmingham NHS Foundation Trust), Debra Fletcher(University of Cambridge), Frances Flinter(Guy's and St Thomas' NHS Foundation Trust), R. Andrés Floto(University of Cambridge), Tom Fowler(Queen Mary University of London), James Fox(Nottingham University Hospitals NHS Trust), Amy Frary(University of Cambridge), Courtney E. French(Guy's and St Thomas' NHS Foundation Trust), Kathleen Freson(Sheffield Teaching Hospitals NHS Foundation Trust), Mattia Frontini(NHS Blood and Transplant), Daniel P. Gale(Renal Association), Henning Gall(Justus-Liebig-Universität Gießen), Vijeya Ganesan(Leeds Teaching Hospitals NHS Trust), Michael Gattens(Cambridge University Hospitals NHS Foundation Trust), Claire Geoghegan(Newcastle upon Tyne Hospitals NHS Foundation Trust), Terence S. A. Gerighty(Salford Royal NHS Foundation Trust), Ali G. Gharavi(Birmingham Women’s and Children’s NHS Foundation Trust), Stefano Ghio(Cambridge University Hospitals NHS Foundation Trust), Hossein-Ardeschir Ghofrani(Justus-Liebig-Universität Gießen), J. Simon R. Gibbs(University College London), Kate Gibson(Oxford University Hospitals NHS Trust), Kimberly Gilmour(Great Ormond Street Hospital), Barbara Girerd(Université Paris-Sud), Nicholas Gleadall(University of Cambridge), Sarah Goddard(University Hospitals of North Midlands NHS Trust), David B. Goldstein(University Hospitals Birmingham NHS Foundation Trust), Keith Gomez(Université Paris-Sud), Pavels Gordins(Hull and East Yorkshire Hospitals NHS Trust), David Gosal(Salford Royal NHS Foundation Trust), Stefan Gräf(University of Cambridge), Jodie Graham(Guy's and St Thomas' NHS Foundation Trust), Luigi Grassi(Guy's and St Thomas' NHS Foundation Trust), Daniel Greene(University of Cambridge), Lynn Greenhalgh(University of Liverpool), Andreas Greinacher(Universitätsmedizin Greifswald), Paolo Gresele(University of Cambridge), Philip G. Griffiths(Guy's and St Thomas' NHS Foundation Trust), Sofia Grigoriadou(Barts Health NHS Trust), Russell Grocock(Illumina (United Kingdom)), Detelina Grozeva(University of Cambridge), Mark Gurnell(University of Cambridge), Scott Hackett(University Hospitals Birmingham NHS Foundation Trust), Charaka Hadinnapola(University of Cambridge), William M. Hague(Royal Brompton & Harefield NHS Foundation Trust), Rosie Hague(NHS Greater Glasgow and Clyde), Matthias Haimel(University of Cambridge), Matthew Hall(Nottingham University Hospitals NHS Trust), Helen Hanson(St George’s University Hospitals NHS Foundation Trust), Eshika Haque(Guy's and St Thomas' NHS Foundation Trust), Kirsty Harkness(John Radcliffe Hospital), Andrew R. Harper(Centre for Human Genetics), Claire L. Harris(Royal Victoria Infirmary), Daniel P. Hart(Guy's and St Thomas' NHS Foundation Trust), Ahamad Hassan(University of Cambridge), Grant Hayman(Epsom and St Helier University Hospitals NHS Trust), Alex Henderson(Great Ormond Street Hospital for Children NHS Foundation Trust), Archana Herwadkar(Salford Royal NHS Foundation Trust), Jonathan Hoffman(Great Ormond Street Hospital), Simon Holden(Imperial College Healthcare NHS Trust), Rita Horváth(St Mary's Hospital), Henry Houlden(Children's Hospital of Philadelphia), Arjan C. Houweling(University of Cambridge), Luke Howard(Imperial College Healthcare NHS Trust), Fengyuan Hu(Imperial College Healthcare NHS Trust), Gavin Hudson(Newcastle University), Joseph Hughes(Imperial College Healthcare NHS Trust), Aarnoud Huissoon(University Hospitals Birmingham NHS Foundation Trust), Marc Humbert(Université Paris-Sud), Sean Humphray(University of Cambridge), Sarah Hunter(University College Hospital), Matthew E. Hurles(Barts Health NHS Trust), Melita Irving(Guy's and St Thomas' NHS Foundation Trust), Louise Izatt(Guy's and St Thomas' NHS Foundation Trust), Roger James(University of Cambridge), Sally Johnson(Royal Victoria Infirmary), Stephen Jolles(Guy's and St Thomas' NHS Foundation Trust), Jennifer Jolley(University of Cambridge), Dragana Josifova(Guy's and St Thomas' NHS Foundation Trust), Neringa Jurkutė(Moorfields Eye Hospital), Tim Karten(Hampshire Hospitals NHS Foundation Trust), Johannes Karten(University of Cambridge), Mary Kasanicki(Cambridge University Hospitals NHS Foundation Trust), Hanadi Kazkaz(University College London Hospitals NHS Foundation Trust), Rashid Kazmi(University of Cambridge), Peter Kelleher(Royal Brompton & Harefield NHS Foundation Trust), Anne M. Kelly(Cambridge University Hospitals NHS Foundation Trust), Wilf Kelsall(University of Cambridge), Carly Kempster(University of Cambridge), David G. Kiely(University College London Hospitals NHS Foundation Trust), Nathalie Kingston(University of Cambridge), Robert Klima(University of Cambridge), Nils Koelling(Centre for Human Genetics), Myrto Kostadima(University of Cambridge), Gábor Kovács(European Bioinformatics Institute), Ania Koziell(King's College London), Roman Kreuzhuber(University of Cambridge), Taco W. Kuijpers(University of Cambridge), Ajith Kumar(University of Cambridge), Dinakantha Kumararatne(Cambridge University Hospitals NHS Foundation Trust), Manju A. Kurian(Great Ormond Street Hospital), Michael A. Laffan(Imperial College Healthcare NHS Trust), Fiona Lalloo(Guy's and St Thomas' NHS Foundation Trust), Michele P. Lambert(Children's Hospital of Philadelphia), Hana Lango Allen(Université Paris-Sud), Allan Lawrie(Moorfields Eye Hospital), D. Mark Layton(European Bioinformatics Institute), Nicholas Lench(University of Cambridge), Claire Lentaigne(Imperial College Healthcare NHS Trust), Tracy Lester(Oxford University Hospitals NHS Trust), Adam P. Levine(University Hospitals Bristol NHS Foundation Trust), Rachel Linger(University of Cambridge), Hilary Longhurst(University College Hospital), Lorena Lorenzo(Barts Health NHS Trust), Eleni Louka(Sandwell & West Birmingham Hospitals NHS Trust), Paul Lyons(University of Cambridge), Rajiv D. Machado(St George's, University of London), Robert V. MacKenzie Ross(University Hospital of Wales), Bella Madan(Guy's and St Thomas' NHS Foundation Trust), Eamonn R. Maher(University of Cambridge), Jesmeen Maimaris(Great Ormond Street Hospital), Samantha Malka(Medical University of Graz), Sarah Mangles(Hampshire Hospitals NHS Foundation Trust), Rutendo Mapeta(University of Cambridge), Kevin J. Marchbank(Royal Victoria Infirmary), Stephen D. Marks(Great Ormond Street Hospital for Children NHS Foundation Trust), Hugh S. Markus(University of Cambridge), Hanns–Ulrich Marschall(Cambridge University Hospitals NHS Foundation Trust), Andrew Marshall(University of Manchester), Jennifer M. Martin(University of Cambridge), Mary Mathias(Great Ormond Street Hospital for Children NHS Foundation Trust), Emma Matthews(University College London Hospitals NHS Foundation Trust), Heather Maxwell(NHS Greater Glasgow and Clyde), Paul McAlinden(Illumina (United Kingdom)), Mark I. McCarthy(Centre for Human Genetics), Harriet McKinney(University of Cambridge), Aoife McMahon(European Bioinformatics Institute), Stuart Meacham(University of Cambridge), Adam J. Mead(University of Cambridge), Ignacio Medina Castello(University of Cambridge), Karyn Mégy(University of Cambridge), Sarju Mehta(Cambridge University Hospitals NHS Foundation Trust), Michel Michaelides(Newcastle upon Tyne Hospitals NHS Foundation Trust), Carolyn M. Millar(Imperial College Healthcare NHS Trust), Shehla Mohammed(Guy's and St Thomas' NHS Foundation Trust), Shahin Moledina(Great Ormond Street Hospital for Children NHS Foundation Trust), David Montani(Université Paris-Sud), Anthony T. Moore(University of California, San Francisco), Joannella Morales(European Bioinformatics Institute), Nicholas W. Morrell(University of Cambridge), Monika Mozere(University College London), Keith W. Muir(Chelsea and Westminster Hospital NHS Foundation Trust), Andrew Mumford(University of Cambridge), Andrea H. Németh(University Hospitals Birmingham NHS Foundation Trust), William G. Newman(Guy's and St Thomas' NHS Foundation Trust), Michael Newnham(University of Cambridge), Sadia Noorani(Sandwell & West Birmingham Hospitals NHS Trust), Paquita Nurden(Guy's and St Thomas' NHS Foundation Trust), Jennifer O’Sullivan(Cambridge University Hospitals NHS Foundation Trust), Samya Obaji(University Hospital of Wales), Chris A. Odhams(University of Oxford), Steven Okoli(Guy's and St Thomas' NHS Foundation Trust), Andrea Olschewski(Ludwig Boltzmann Institute for Lung Vascular Research), Horst Olschewski(Medical University of Graz), Kai Ren Ong(University of Leicester), S. Oram(University of Cambridge), Elizabeth Ormondroyd(University of Cambridge), Willem H. Ouwehand(NHS Blood and Transplant), Claire Palles(Guy's and St Thomas' NHS Foundation Trust), Sofia Papadia(North Bristol NHS Trust), Soo‐Mi Park(St James's University Hospital), David Parry(Newcastle upon Tyne Hospitals NHS Foundation Trust), Smita Y. Patel(Guy's and St Thomas' NHS Foundation Trust), Joan Paterson(University of Cambridge), Andrew J. Peacock(Newcastle upon Tyne Hospitals NHS Foundation Trust), Simon H. S. Pearce(Beth Israel Deaconess Medical Center), John F. Peden(Great Ormond Street Hospital for Children NHS Foundation Trust), Kathelijne Peerlinck(University College London Hospitals NHS Foundation Trust), Christopher J. Penkett(Nottingham University Hospitals NHS Trust), Joanna Pepke‐Żaba(Justus-Liebig-Universität Gießen), R. Petersen(University of Cambridge), Clarissa Pilkington(Great Ormond Street Hospital for Children NHS Foundation Trust), Kenneth Poole(University of Cambridge), Radhika Prathalingam(Great Ormond Street Hospital), Bethan Psaila(University of Cambridge), Angela Pyle(Oxford BioMedica (United Kingdom)), Richard Quinton(Guy's and St Thomas' NHS Foundation Trust), Shamima Rahman(Great Ormond Street Hospital), Stuart Rankin(University of Cambridge), Anupama Rao(Great Ormond Street Hospital for Children NHS Foundation Trust), F. Lucy Raymond(University of Cambridge), Paula Rayner-Matthews(King's College London), Christine A. Rees(Churchill Hospital), Augusto Rendon(Barts Health NHS Trust), Tara Renton(Queen Mary University of London), Christopher J. Rhodes(Genomics England), Andrew S.C. Rice(Chelsea and Westminster Hospital NHS Foundation Trust), Sylvia Richardson(University of Cambridge), Alex Richter(University Hospitals Birmingham NHS Foundation Trust), Leema Robert(Guy's and St Thomas' NHS Foundation Trust), Irene Roberts(St George's, University of London), Anthony S. Rogers(Cambridge University Hospitals NHS Foundation Trust), Sarah J. Rose(Guy's and St Thomas' NHS Foundation Trust), Robert Ross‐Russell(University of Cambridge), Catherine Roughley(University of Cambridge), Noémi Roy(University of Cambridge), Deborah Ruddy(Guy's and St Thomas' NHS Foundation Trust), Omid Sadeghi‐Alavijeh(Genomics England), Moin A. Saleem(University Hospitals Bristol NHS Foundation Trust), Nilesh J. Samani(University of Leicester), Crina Samarghitean(University of Cambridge), Alba Sanchis‐Juan(University of Cambridge), Ravishankar Sargur(Royal Victoria Infirmary), Robert N. Sarkany(Guy's and St Thomas' NHS Foundation Trust), Simon C. Satchell(North Bristol NHS Trust), Sinisa Savic(St James's University Hospital), John A. Sayer(Centre for Human Genetics), Genevieve Sayer(Guy's and St Thomas' NHS Foundation Trust), Laura Scelsi(John Radcliffe Hospital), Andrew M. Schaefer(St Thomas' Hospital), Sol Schulman(Beth Israel Deaconess Medical Center), Richard H. Scott(NHS Greater Glasgow and Clyde), Marie Scully(University College London Hospitals NHS Foundation Trust), Claire Searle(Nottingham University Hospitals NHS Trust), Werner Seeger(Justus-Liebig-Universität Gießen), Arjune Sen(European Bioinformatics Institute), William A. Sewell(Scunthorpe General Hospital), Denis Seyres(University of Cambridge), Neil V. Shah(Great Ormond Street Hospital), Olga Shamardina(University of Cambridge), Susan Shapiro(Centre for Human Genetics), Adam Shaw(University of Liverpool), Patrick Short(Wellcome Sanger Institute), Keith Sibson(Great Ormond Street Hospital for Children NHS Foundation Trust), Lucy Side(University Hospital Southampton NHS Foundation Trust), Ilenia Simeoni(University of Cambridge), Michael A. Simpson(King's College London), Matthew C. Sims(University of Cambridge), Suthesh Sivapalaratnam(NHS Blood and Transplant), Damian Smedley(Queen Mary University of London), Katherine R. Smith(University of Cambridge), Kenneth G. C. Smith(University of Cambridge), Katie Snape(St George’s University Hospitals NHS Foundation Trust), Nicole Soranzo(University of Cambridge), Florent Soubrier(Assistance Publique – Hôpitaux de Paris), Laura Southgate(St George's, University of London), Olivera Spasić-Bošković(Cambridge University Hospitals NHS Foundation Trust), Simon Staines(Dalhousie University), Emily Staples(Imperial College Healthcare NHS Trust), Hannah Stark(University of Cambridge), Jonathan Stephens(University of Cambridge), Charles A. Steward(Cambridge University Hospitals NHS Foundation Trust), Kathleen Stirrups(University of Cambridge), Alexander Stuckey(Great Ormond Street Hospital), Jay Suntharalingam(Wellcome Sanger Institute), Emilia M. Swietlik(University of Cambridge), Petros Syrris(Centre for Human Genetics), Robert C. Tait(University of Cambridge), Kate Talks(Royal Victoria Infirmary), Rhea Tan(University of Cambridge), Katie Tate(University of Cambridge), John Taylor(University Hospitals Birmingham NHS Foundation Trust), Jenny C. Taylor(Centre for Human Genetics), James E. Thaventhiran(University of Cambridge), Andreas C. Themistocleous(University College London Hospitals NHS Foundation Trust), Ellen Thomas(St Thomas' Hospital), David Thomas(University of Cambridge), Moira Thomas(NHS Greater Glasgow and Clyde), Patrick Thomas(University of Cambridge), Kate Thomson(University of Oxford), Adrian J. Thrasher(Imperial College Healthcare NHS Trust), Glen Threadgold(European Bioinformatics Institute), Chantal Thys(Newcastle upon Tyne Hospitals NHS Foundation Trust), Tobias Tilly(University of Cambridge), Marc Tischkowitz(University of Cambridge), Catherine Titterton(University of Cambridge), John A. Todd(Centre for Human Genetics), Cheng‐Hock Toh(University of Liverpool), Bas Tolhuis(Great Ormond Street Hospital for Children NHS Foundation Trust), Ian Tomlinson(Newcastle upon Tyne Hospitals NHS Foundation Trust), Mark Toshner(University of Cambridge), Matthew Traylor(University of Cambridge), Carmen Treacy(University of Cambridge), Paul Treadaway(University of Cambridge), Richard C. Trembath(King's College London), Salih Tuna(University of Cambridge), Wojciech Turek(University of Cambridge), Ernest Turro(University of Cambridge), Philip Twiss(Cambridge University Hospitals NHS Foundation Trust), Tom Vale(University of Cambridge), Chris Van Geet(University of Cambridge), Natalie R. van Zuydam(Centre for Human Genetics), Maarten Vandekuilen(University of Cambridge), Anthony M. Vandersteen(Dalhousie University), Marta Vazquez‐Lopez(Imperial College Healthcare NHS Trust), Julie von Ziegenweidt(University of Cambridge), Anton Vonk Noordegraaf(Amsterdam UMC Location Vrije Universiteit Amsterdam), Annette Wagner(Cambridge University Hospitals NHS Foundation Trust), Quinten Waisfisz(Amsterdam University Medical Centers), Suellen M. Walker(Great Ormond Street Hospital), Neil Walker(University of Cambridge), Klaudia Walter(Wellcome Sanger Institute), James S. Ware(Royal Brompton & Harefield NHS Foundation Trust), Hugh Watkins(Centre for Human Genetics), C. Ian F. Watt(University of Cambridge), Andrew R. Webster(Moorfields Eye Hospital), Lucy R. Wedderburn(Great Ormond Street Hospital), Wei Wei(University of Cambridge), Steven Welch(University Hospitals Birmingham NHS Foundation Trust), Julie Wessels(University Hospitals of North Midlands NHS Trust), Sarah K. Westbury(University Hospitals Bristol NHS Foundation Trust), John‐Paul Westwood(University College London Hospitals NHS Foundation Trust), John Wharton(Imperial College London), Deborah Whitehorn(University of Cambridge), James Whitworth(University of Cambridge), Andrew O.M. Wilkie(John Radcliffe Hospital), Martin R. Wilkins(Imperial College London), Catherine Williamson(Imperial College Healthcare NHS Trust), Brian T. Wilson(Great Ormond Street Hospital for Children NHS Foundation Trust), Edwin Wong(Newcastle upon Tyne Hospitals NHS Foundation Trust), Nicholas Wood(Energy Institute), Yvette Wood(University of Cambridge), C. Geoffrey Woods(University of Cambridge), Emma R. Woodward(St Mary's Hospital), Stephen J. Wort(Royal Brompton & Harefield NHS Foundation Trust), Austen Worth(Great Ormond Street Hospital for Children NHS Foundation Trust), Michael Wright(Newcastle upon Tyne Hospitals NHS Foundation Trust), Katherine Yates(University of Cambridge), Patrick Yong(Frimley Health NHS Foundation Trust), Timothy M. Young(University of Cambridge), Ping Yu(University of Cambridge), Patrick Yu‐Wai‐Man(University of Cambridge), Eliska Zlamalova(University of Cambridge), Nathalie Kingston(University of Cambridge), Neil Walker(University of Cambridge), John R. Bradley(University of Cambridge), Sofie Ashford(University of Cambridge), Christopher J. Penkett(University of Cambridge), Kathleen Freson(KU Leuven), Kathleen Stirrups(University of Cambridge), F. Lucy Raymond(University of Cambridge), Willem H. Ouwehand(NHS Blood and Transplant)

Nature

June 24, 2020

10.1038/s41586-020-2434-2

Cited by 578Open Access

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