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

Karyn Mégy,Stefan Gräf,Daniel Greene,Olga Shamardina,Hana Allen,Alba Sanchis‐Juan,Mattia Frontini,Chantal Thys,Jonathan Stephens,Rutendo Mapeta,Oliver Burren,Kate Downes,Matthias Haimel,Salih Tuna,Sri Deevi,Timothy Aitman,David Bennett,Paul Calleja,Keren Carss,Mark Caulfield,Patrick Chinnery,Peter Dixon,Daniel Gale,Roger James,Ania Koziell,Michael Laffan,Adam Levine,Eamonn Maher,Hugh Markus,Joannella Morales,Nicholas Morrell,Andrew Mumford,Elizabeth Ormondroyd,Stuart Rankin,Augusto Rendon,Sylvia Richardson,Irene Roberts,Noémi Roy,Moin Saleem,Kenneth Smith,Hannah Stark,Rhea Tan,Andreas Themistocleous,Adrian Thrasher,Hugh Watkins,Andrew Webster,Martin Wilkins,Catherine Williamson,James Whitworth,Sean Humphray,David Bentley,Stephen Abbs,Lara Abulhoul,Julian Adlard,Munaza Ahmed,Hana Alachkar,David Allsup,J. Almeida,Philip Ancliff,Richard Antrobus,Ruth Armstrong,Gavin Arno,Sofie Ashford,Anthony Attwood,Paul Aurora,Christian Babbs,Chiara Bacchelli,Tamam Bakchoul,Siddharth Banka,Tadbir Bariana,Julian Barwell,Joana Batista,Helen Baxendale,Phil Beales,Agnieszka Bierżyńska,Tina Biss,Maria Bitner‐Glindzicz,Graeme Black,Marta Bleda,Iulia Blesneac,Detlef Böckenhauer,Harm Bogaard,Christian Bourne,Sara Boyce,John Bradley,Eugene Bragin,Gerome Breen,Paul Brennan,Carole Brewer,Matthew Brown,Andrew Browning,Michael Browning,Rachel Buchan,Matthew Buckland,Teofila Bueser,Carmen Diz,John Burn,Siobhan Burns,Nigel Burrows,Carolyn Campbell,Gerald Carr‐White,Ruth Casey,Jenny Chambers,John Chambers,Melanie Chan,Calvin Cheah,Floria Cheng,Manali Chitre,Martin Christian,Colin Church,Jill Clayton‐Smith,Maureen Cleary,Naomi Brod,Gerry Coghlan,Elizabeth Colby,Trevor Cole,Janine Collins,Peter Collins,Camilla Colombo,Cecilia Compton,Robin Condliffe,Stuart Cook,H. Cook,Nichola Cooper,Paul Corris,Abigail Furnell,Fiona Cunningham,Nicola Curry,Antony Cutler,Matthew Daniels,Mehul Dattani,Louise Daugherty,John Davis,Anthony Soyza,Timothy Dent,Charu Deshpande,Eleanor Dewhurst,Sofia Douzgou,Anna Drazyk,Elizabeth Drewe,Daniel Duarte,Tina Dutt,David Edgar,Karen Edwards,William Egner,Melanie Ekani,Perry Elliott,Wendy Erber,Marie Erwood,Maria Estiú,D. Evans,Gillian Evans,Tamara Everington,Mélanie Eyries,Hiva Fassihi,Rémi Favier,Jack Findhammer,Debra Fletcher,Frances Flinter,R. Floto,Tom Fowler,James Fox,Amy Frary,Courtney French,Kathleen Freson,Henning Gall,Vijeya Ganesan,Michael Gattens,Claire Geoghegan,Terence Gerighty,Ali Gharavi,Stefano Ghio,Hossein Ghofrani,J. Gibbs,Kate Gibson,Kimberly Gilmour,Barbara Girerd,Nicholas Gleadall,Sarah Goddard,David Goldstein,Keith Gomez,Pavels Gordins,David Gosal,Jodie Graham,Luigi Grassi,Lynn Greenhalgh,Andreas Greinacher,Paolo Gresele,Philip Griffiths,Sofia Grigoriadou,Russell Grocock,Detelina Grozeva,Mark Gurnell,Scott Hackett,Charaka Hadinnapola,William Hague,Rosie Hague,Matthew Hall,Helen Hanson,Eshika Haque,Kirsty Harkness,Andrew Harper,Claire Harris,Daniel Hart,Ahamad Hassan,Grant Hayman,Alex Henderson,Archana Herwadkar,Jonathan Hoffman,Simon Holden,Rita Horváth,Henry Houlden,Arjan Houweling,Luke Howard,Fengyuan Hu,Gavin Hudson,Joseph Hughes,Aarnoud Huissoon,Marc Humbert,Sarah Hunter,Matthew Hurles,Melita Irving,Louise Izatt,Sally Johnson,Stephen Jolles,Jennifer Jolley,Dragana Josifova,Neringa Jurkutė,Tim Karten,Johannes Karten,Mary Kasanicki,Hanadi Kazkaz,Rashid Kazmi,Peter Kelleher,Anne Kelly,Wilf Kelsall,Carly Kempster,David Kiely,Nathalie Kingston,Robert Klima,Nils Koelling,Myrto Kostadima,Gábor Kovács,Roman Kreuzhuber,Taco Kuijpers,Ajith Kumar,Dinakantha Kumararatne,Manju Kurian,Fiona Lalloo,Michele Lambert,Allan Lawrie,D. Layton,Nicholas Lench,Claire Lentaigne,Tracy Lester,Rachel Linger,Hilary Longhurst,Lorena Lorenzo,Eleni Louka,Paul Lyons,Rajiv Machado,Robert Ross,Bella Madan,Jesmeen Maimaris,Samantha Malka,Sarah Mangles,Kevin Marchbank,Stephen Marks,Hanns‐Ulrich Marschall,Andrew Marshall,Jennifer Martin,Mary Mathias,Emma Matthews,Heather Maxwell,Paul McAlinden,Mark McCarthy,Harriet McKinney,Aoife McMahon,Stuart Meacham,Adam Mead,Ignacio Castello,Sarju Mehta,Michel Michaelides,Carolyn Millar,Shehla Mohammed,Shahin Moledina,David Montani,Anthony Moore,Monika Mozere,Keith Muir,Andrea Németh,William Newman,Michael Newnham,Sadia Noorani,Paquita Nurden,Jennifer O’Sullivan,Samya Obaji,Chris Odhams,Steven Okoli,Andrea Olschewski,Horst Olschewski,Kai Ong,S. Oram,Willem Ouwehand,Claire Palles,Sofia Papadia,Soo‐Mi Park,David Parry,Smita Patel,Joan Paterson,Andrew Peacock,Simon Pearce,John Peden,Kathelijne Peerlinck,Christopher Penkett,Joanna Pepke‐Żaba,R. Petersen,Clarissa Pilkington,Kenneth Poole,Radhika Prathalingam,Bethan Psaila,Angela Pyle,Richard Quinton,Shamima Rahman,Anupama Rao,F. Raymond,Paula Rayner-Matthews,Christine Rees,Tara Renton,Christopher Rhodes,Andrew Rice,Alex Richter,Leema Robert,Anthony Rogers,Sarah Rose,Robert Ross‐Russell,Catherine Roughley,Deborah Ruddy,Omid Sadeghi‐Alavijeh,Nilesh Samani,Crina Samarghitean,Ravishankar Sargur,Robert Sarkany,Simon Satchell,Sinisa Savic,John Sayer,Genevieve Sayer,Laura Scelsi,Andrew Schaefer,Sol Schulman,Richard Scott,Marie Scully,Claire Searle,Werner Seeger,Arjune Sen,William Sewell,Denis Seyres,Neil Shah,Susan Shapiro,Adam Shaw,Patrick Short,Keith Sibson,Lucy Side,Ilenia Simeoni,Michael Simpson,Matthew Sims,Suthesh Sivapalaratnam,Damian Smedley,Katherine Smith,Katie Snape,Nicole Soranzo,Florent Soubrier,Laura Southgate,Olivera Spasić-Bošković,Simon Staines,Emily Staples,Charles Steward,Kathleen Stirrups,Alexander Stuckey,Jay Suntharalingam,Emilia Swietlik,Petros Syrris,Robert Tait,Kate Talks,Katie Tate,John Taylor,Jenny Taylor,James Thaventhiran,Ellen Thomas,David Thomas,Moira Thomas,Patrick Thomas,Kate Thomson,Glen Threadgold,Tobias Tilly,Marc Tischkowitz,Catherine Titterton,John Todd,Cheng‐Hock Toh,Bas Tolhuis,Ian Tomlinson,Mark Toshner,Matthew Traylor,Carmen Treacy,Paul Treadaway,Richard Trembath,Wojciech Turek,Philip Twiss,Tom Vale,Chris Geet,Natalie Zuydam,Maarten Vandekuilen,Anthony Vandersteen,Marta Vazquez‐Lopez,Julie Ziegenweidt,Anton Noordegraaf,Annette Wagner,Quinten Waisfisz,Suellen Walker,Neil Walker,Klaudia Walter,James Ware,C. Watt,Lucy Wedderburn,Wei Wei,Steven Welch,Julie Wessels,Sarah Westbury,John‐Paul Westwood,John Wharton,Deborah Whitehorn,Andrew Wilkie,Brian Wilson,Edwin Wong,Nicholas Wood,Yvette Wood,C. Woods,Emma Woodward,Stephen Wort,Austen Worth,Michael Wright,Katherine Yates,Patrick Yong,Timothy Young,Ping Yu,Patrick Yu‐Wai‐Man