Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis; Kaitlin E. Samocha; Laurens Wiel; Zhancheng Zhang; Kevin J. Arvai; Ruth Y. Eberhardt; Giuseppe Gallone; Stefan H. Lelieveld; Hilary C. Martin; Jeremy F. McRae; Patrick Short; Rebecca I. Torene; Elke de Boer; Petr Danecek; Eugene J. Gardner; Ni Huang; Jenny Lord; Iñigo Martincorena; Rolph Pfundt; Margot R.F. Reijnders; Alison Yeung; Helger G. Yntema; Deciphering Developmental Disorders Study; Sílvia Borràs; Caroline Clark; John Dean; Zosia Miedzybrodzka; Alison Ross; Stephen Tennant; Tabib Dabir; Deirdre Donnelly; Mervyn Humphreys; Alex Magee; Vivienne McConnell; Shane McKee; Susan McNerlan; Patrick J. Morrison; Gillian Rea; Fiona Stewart; Trevor Cole; Nicola Cooper; Lisa Cooper‐Charles; Helen Cox; Lily Islam; Joanna Jarvis; Rebecca Keelagher; Derek Lim; Dominic McMullan; Jenny Morton; Swati Naik; Mary O’Driscoll; Kai‐Ren Ong; Deborah Osio; Nicola Ragge; Sarah Turton; Julie Vogt; Denise Williams; Simon Bodek; Alan Donaldson; Alison Hills; Karen Low; Ruth Newbury‐Ecob; Andrew Norman; Eileen Roberts; Ingrid Scurr; Sarah Smithson; Madeleine Tooley; Steve Abbs; Ruth Armstrong; Carolyn Dunn; Simon Holden; Soo‐Mi Park; Joan Paterson; Lucy Raymond; Evan Reid; Richard Sandford; Ingrid Simonic; Marc Tischkowitz; Geoff Woods; Lisa Bradley; Joanne Comerford; Andrew Green; Sally Ann Lynch; Shirley McQuaid; Brendan Mullaney; Jonathan Berg; David Goudie; Eleni Mavrak; Joanne McLean; Catherine McWilliam; Eleanor Reavey; Tara Azam; Elaine Cleary; Andrew P. Jackson; Wayne Lam; Anne Lampe; David Moore; Mary Porteous; Emma L. Baple; Júlia Baptista; Carole Brewer; Bruce Castle; Emma Kivuva; Martina Owens; Julia Rankin; Charles Shaw‐Smith; Claire Turner; Peter D. Turnpenny; Carolyn Tysoe; Therese Bradley; Rosemarie Davidson; Carol Gardiner; Shelagh Joss; Esther Kinning; Cheryl Longman; Ruth McGowan; Victoria Murday; Daniela T. Pilz; Edward S. Tobias; Margo Whiteford; Nicola Williams; Angela Barnicoat; Emma Clement; Francesca Faravelli; Jane A. Hurst; Lucy Jenkins; Wendy D. Jones; Vipul Kumar; Melissa Lees; Sam Loughlin; Alison Male; Deborah Morrogh; Elisabeth Rosser; Richard H. Scott; Louise C. Wilson; Ana Beleza; Charu Deshpande; Frances Flinter; Muriel Holder; Melita Irving; Louise Izatt; Dragana Josifova; Shehla Mohammed; Aneta Molenda; Leema Robert; Wendy Wassyng Roworth; Deborah Ruddy; Mina Ryten; Shu Yau; Christopher Bennett; Moira Blyth; Jennifer Campbell; Andrea Coates; Angus Dobbie; Sarah Hewitt; Emma Hobson; Eilidh Jackson; Rosalyn Jewell; Alison Kraus; Katrina Prescott; Eamonn Sheridan; Jenny Thomson; Kirsty Bradshaw; Abhijit Dixit; Jacqueline Eason; Rebecca L. Haines; Rachel Harrison; Stacey Mutch; Ajoy Sarkar; Claire Searle; Nora Shannon; Abid Sharif; Mohnish Suri; Pradeep Vasudevan; Natalie Canham; Ian O. Ellis; Lynn Greenhalgh; Emma Howard; Victoria Stinton; Andrew Swale; Astrid Weber; Siddharth Banka; Catherine Breen; Tracy A. Briggs; Emma Burkitt‐Wright; Kate Chandler; Jill Clayton‐Smith; Dian Donnai; Sofia Douzgou; Lorraine Gaunt; Elizabeth Jones; Bronwyn Kerr; Claire Langley; Kay Metcalfe; Audrey Smith; Ronnie Wright; David Bourn; John Burn; Richard Fisher; Steve Hellens; Alex Henderson; Tara Montgomery; Miranda Splitt; Volker Straub; Michael Wright; Simon Zwolinski; Zoe Allen; Birgitta Bernhard; Angela F. Brady; Claire Brooks; Louise Busby; Virginia Clowes; Neeti Ghali; Susan Holder; Rita Ibitoye; Emma Wakeling; Edward Blair; Jenny Carmichael; Deirdre Cilliers; Susan Clasper; Richard J. Gibbons; Usha Kini; Tracy Lester; Andrea H. Németh; Joanna Poulton; Sue Price; Debbie Shears; Helen Stewart; Andrew O.M. Wilkie; Shadi Albaba; Duncan Baker; Meena Balasubramanian; Diana Johnson; Michael Parker; Oliver Quarrell; A. Stewart; Josh Willoughby; Charlene Crosby; Frances Elmslie; Tessa Homfray; Huilin Jin; Nayana Lahiri; Sahar Mansour; Karen Marks; Meriel McEntagart; Anand Saggar; Kate Tatton‐Brown; Rachel Butler; Angus Clarke; Sian Corrin; Andrew E. Fry; Arveen Kamath; Emma McCann; Hood Mugalaasi; Caroline Pottinger; Annie Procter; Julian R. Sampson; Francis H. Sansbury; Vinod Varghese; Diana Baralle; Alison Callaway; Emma J. Cassidy; Stacey Daniels; Andrew G. L. Douglas; Nicola Foulds; David Hunt; Mira Kharbanda; Katherine Lachlan; Catherine Mercer; Lucy Side; I. Karen Temple; Diana Wellesley; Lisenka E.L.M. Vissers; Jane Juusola; Caroline F. Wright; Han G. Brunner; Helen V. Firth; David Fitzpatrick; Jeffrey C. Barrett; Matthew E. Hurles; Christian Gilissen; Kyle Retterer

doi:10.1038/s41586-020-2832-5

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis(Wellcome Sanger Institute), Kaitlin E. Samocha(Wellcome Sanger Institute), Laurens Wiel(Radboud University Nijmegen), Zhancheng Zhang, Kevin J. Arvai, Ruth Y. Eberhardt(Wellcome Sanger Institute), Giuseppe Gallone(Wellcome Sanger Institute), Stefan H. Lelieveld(Radboud University Nijmegen), Hilary C. Martin(Wellcome Sanger Institute), Jeremy F. McRae(Wellcome Sanger Institute), Patrick Short(Wellcome Sanger Institute), Rebecca I. Torene, Elke de Boer(Radboud University Nijmegen), Petr Danecek(Wellcome Sanger Institute), Eugene J. Gardner(Wellcome Sanger Institute), Ni Huang(Wellcome Sanger Institute), Jenny Lord(Wellcome Sanger Institute), Iñigo Martincorena(Wellcome Sanger Institute), Rolph Pfundt(Radboud University Nijmegen), Margot R.F. Reijnders(Radboud University Nijmegen), Alison Yeung(Victorian Clinical Genetics Services), Helger G. Yntema(Radboud University Nijmegen), Deciphering Developmental Disorders Study(NHS Grampian), Sílvia Borràs(NHS Grampian), Caroline Clark(NHS Grampian), John Dean(NHS Grampian), Zosia Miedzybrodzka(NHS Grampian), Alison Ross(NHS Grampian), Stephen Tennant(Belfast Health and Social Care Trust), Tabib Dabir(Belfast Health and Social Care Trust), Deirdre Donnelly(Belfast Health and Social Care Trust), Mervyn Humphreys(Belfast Health and Social Care Trust), Alex Magee(Belfast Health and Social Care Trust), Vivienne McConnell(Belfast Health and Social Care Trust), Shane McKee(Belfast Health and Social Care Trust), Susan McNerlan(Belfast Health and Social Care Trust), Patrick J. Morrison(Belfast Health and Social Care Trust), Gillian Rea(Belfast Health and Social Care Trust), Fiona Stewart(Birmingham Women's Hospital), Trevor Cole(Birmingham Women's Hospital), Nicola Cooper(Birmingham Women's Hospital), Lisa Cooper‐Charles(Birmingham Women's Hospital), Helen Cox(Birmingham Women's Hospital), Lily Islam(Birmingham Women's Hospital), Joanna Jarvis(Birmingham Women's Hospital), Rebecca Keelagher(Birmingham Women's Hospital), Derek Lim(Birmingham Women's Hospital), Dominic McMullan(Birmingham Women's Hospital), Jenny Morton(Birmingham Women's Hospital), Swati Naik(Birmingham Women's Hospital), Mary O’Driscoll(Birmingham Women's Hospital), Kai‐Ren Ong(Birmingham Women's Hospital), Deborah Osio(Birmingham Women's Hospital), Nicola Ragge(Birmingham Women's Hospital), Sarah Turton(Birmingham Women's Hospital), Julie Vogt(Birmingham Women's Hospital), Denise Williams(University Hospitals Bristol NHS Foundation Trust), Simon Bodek(University Hospitals Bristol NHS Foundation Trust), Alan Donaldson(University Hospitals Bristol NHS Foundation Trust), Alison Hills(University Hospitals Bristol NHS Foundation Trust), Karen Low(University Hospitals Bristol NHS Foundation Trust), Ruth Newbury‐Ecob(University Hospitals Bristol NHS Foundation Trust), Andrew Norman(University Hospitals Bristol NHS Foundation Trust), Eileen Roberts(University Hospitals Bristol NHS Foundation Trust), Ingrid Scurr(University Hospitals Bristol NHS Foundation Trust), Sarah Smithson(University Hospitals Bristol NHS Foundation Trust), Madeleine Tooley(Cambridge University Hospitals NHS Foundation Trust), Steve Abbs(Cambridge University Hospitals NHS Foundation Trust), Ruth Armstrong(Cambridge University Hospitals NHS Foundation Trust), Carolyn Dunn(Cambridge University Hospitals NHS Foundation Trust), Simon Holden(Cambridge University Hospitals NHS Foundation Trust), Soo‐Mi Park(Cambridge University Hospitals NHS Foundation Trust), Joan Paterson(Cambridge University Hospitals NHS Foundation Trust), Lucy Raymond(Cambridge University Hospitals NHS Foundation Trust), Evan Reid(Cambridge University Hospitals NHS Foundation Trust), Richard Sandford(Cambridge University Hospitals NHS Foundation Trust), Ingrid Simonic(Cambridge University Hospitals NHS Foundation Trust), Marc Tischkowitz(Cambridge University Hospitals NHS Foundation Trust), Geoff Woods(Our Lady's Hospital), Lisa Bradley(Our Lady's Hospital), Joanne Comerford(Our Lady's Hospital), Andrew Green(Our Lady's Hospital), Sally Ann Lynch(Our Lady's Hospital), Shirley McQuaid(Our Lady's Hospital), Brendan Mullaney(NHS Tayside), Jonathan Berg(NHS Tayside), David Goudie(NHS Tayside), Eleni Mavrak(NHS Tayside), Joanne McLean(NHS Tayside), Catherine McWilliam(NHS Tayside), Eleanor Reavey(Western General Hospital), Tara Azam(Western General Hospital), Elaine Cleary(Western General Hospital), Andrew P. Jackson(Western General Hospital), Wayne Lam(Western General Hospital), Anne Lampe(Western General Hospital), David Moore(Western General Hospital), Mary Porteous(Royal Devon & Exeter NHS Foundation Trust), Emma L. Baple(Royal Devon & Exeter NHS Foundation Trust), Júlia Baptista(Royal Devon & Exeter NHS Foundation Trust), Carole Brewer(Royal Devon & Exeter NHS Foundation Trust), Bruce Castle(Royal Devon & Exeter NHS Foundation Trust), Emma Kivuva(Royal Devon & Exeter NHS Foundation Trust), Martina Owens(Royal Devon & Exeter NHS Foundation Trust), Julia Rankin(Royal Devon & Exeter NHS Foundation Trust), Charles Shaw‐Smith(Royal Devon & Exeter NHS Foundation Trust), Claire Turner(Royal Devon & Exeter NHS Foundation Trust), Peter D. Turnpenny(Royal Devon & Exeter NHS Foundation Trust), Carolyn Tysoe(NHS Greater Glasgow and Clyde), Therese Bradley(NHS Greater Glasgow and Clyde), Rosemarie Davidson(NHS Greater Glasgow and Clyde), Carol Gardiner(NHS Greater Glasgow and Clyde), Shelagh Joss(NHS Greater Glasgow and Clyde), Esther Kinning(NHS Greater Glasgow and Clyde), Cheryl Longman(NHS Greater Glasgow and Clyde), Ruth McGowan(NHS Greater Glasgow and Clyde), Victoria Murday(NHS Greater Glasgow and Clyde), Daniela T. Pilz(NHS Greater Glasgow and Clyde), Edward S. Tobias(NHS Greater Glasgow and Clyde), Margo Whiteford(NHS Greater Glasgow and Clyde), Nicola Williams(Great Ormond Street Hospital for Children NHS Foundation Trust), Angela Barnicoat(Great Ormond Street Hospital for Children NHS Foundation Trust), Emma Clement(Great Ormond Street Hospital for Children NHS Foundation Trust), Francesca Faravelli(Great Ormond Street Hospital for Children NHS Foundation Trust), Jane A. Hurst(Great Ormond Street Hospital for Children NHS Foundation Trust), Lucy Jenkins(Great Ormond Street Hospital for Children NHS Foundation Trust), Wendy D. Jones(Great Ormond Street Hospital for Children NHS Foundation Trust), Vipul Kumar(Great Ormond Street Hospital for Children NHS Foundation Trust), Melissa Lees(Great Ormond Street Hospital for Children NHS Foundation Trust), Sam Loughlin(Great Ormond Street Hospital for Children NHS Foundation Trust), Alison Male(Great Ormond Street Hospital for Children NHS Foundation Trust), Deborah Morrogh(Great Ormond Street Hospital for Children NHS Foundation Trust), Elisabeth Rosser(Great Ormond Street Hospital for Children NHS Foundation Trust), Richard H. Scott(Great Ormond Street Hospital for Children NHS Foundation Trust), Louise C. Wilson(Guy's Hospital), Ana Beleza(Guy's Hospital), Charu Deshpande(Guy's Hospital), Frances Flinter(Guy's Hospital), Muriel Holder(Guy's Hospital), Melita Irving(Guy's Hospital), Louise Izatt(Guy's Hospital), Dragana Josifova(Guy's Hospital), Shehla Mohammed(Guy's Hospital), Aneta Molenda(Guy's Hospital), Leema Robert(Guy's Hospital), Wendy Wassyng Roworth(Guy's Hospital), Deborah Ruddy(Guy's Hospital), Mina Ryten(Guy's Hospital), Shu Yau(Chapel Allerton Hospital), Christopher Bennett(Chapel Allerton Hospital), Moira Blyth(Chapel Allerton Hospital), Jennifer Campbell(Chapel Allerton Hospital), Andrea Coates(Chapel Allerton Hospital), Angus Dobbie(Chapel Allerton Hospital), Sarah Hewitt(Chapel Allerton Hospital), Emma Hobson(Chapel Allerton Hospital), Eilidh Jackson(Chapel Allerton Hospital), Rosalyn Jewell(Chapel Allerton Hospital), Alison Kraus(Chapel Allerton Hospital), Katrina Prescott(Chapel Allerton Hospital), Eamonn Sheridan(Chapel Allerton Hospital), Jenny Thomson(Nottingham University Hospitals NHS Trust), Kirsty Bradshaw(Nottingham University Hospitals NHS Trust), Abhijit Dixit(Nottingham University Hospitals NHS Trust), Jacqueline Eason(Nottingham University Hospitals NHS Trust), Rebecca L. Haines(Nottingham University Hospitals NHS Trust), Rachel Harrison(Nottingham University Hospitals NHS Trust), Stacey Mutch(Nottingham University Hospitals NHS Trust), Ajoy Sarkar(Nottingham University Hospitals NHS Trust), Claire Searle(Nottingham University Hospitals NHS Trust), Nora Shannon(Nottingham University Hospitals NHS Trust), Abid Sharif(Nottingham University Hospitals NHS Trust), Mohnish Suri(Leicester Royal Infirmary), Pradeep Vasudevan(University of Liverpool), Natalie Canham(University of Liverpool), Ian O. Ellis(University of Liverpool), Lynn Greenhalgh(University of Liverpool), Emma Howard(University of Liverpool), Victoria Stinton(University of Liverpool), Andrew Swale(University of Liverpool), Astrid Weber(St Mary's Hospital), Siddharth Banka(St Mary's Hospital), Catherine Breen(St Mary's Hospital), Tracy A. Briggs(St Mary's Hospital), Emma Burkitt‐Wright(St Mary's Hospital), Kate Chandler(St Mary's Hospital), Jill Clayton‐Smith(St Mary's Hospital), Dian Donnai(St Mary's Hospital), Sofia Douzgou(St Mary's Hospital), Lorraine Gaunt(St Mary's Hospital), Elizabeth Jones(St Mary's Hospital), Bronwyn Kerr(St Mary's Hospital), Claire Langley(St Mary's Hospital), Kay Metcalfe(St Mary's Hospital), Audrey Smith(St Mary's Hospital), Ronnie Wright(Newcastle upon Tyne Hospitals NHS Foundation Trust), David Bourn(Newcastle upon Tyne Hospitals NHS Foundation Trust), John Burn(Newcastle upon Tyne Hospitals NHS Foundation Trust), Richard Fisher(Newcastle upon Tyne Hospitals NHS Foundation Trust), Steve Hellens(Newcastle upon Tyne Hospitals NHS Foundation Trust), Alex Henderson(Newcastle upon Tyne Hospitals NHS Foundation Trust), Tara Montgomery(Newcastle upon Tyne Hospitals NHS Foundation Trust), Miranda Splitt(Newcastle upon Tyne Hospitals NHS Foundation Trust), Volker Straub(Newcastle upon Tyne Hospitals NHS Foundation Trust), Michael Wright(Newcastle upon Tyne Hospitals NHS Foundation Trust), Simon Zwolinski(London North West Healthcare NHS Trust), Zoe Allen(London North West Healthcare NHS Trust), Birgitta Bernhard(London North West Healthcare NHS Trust), Angela F. Brady(London North West Healthcare NHS Trust), Claire Brooks(London North West Healthcare NHS Trust), Louise Busby(London North West Healthcare NHS Trust), Virginia Clowes(London North West Healthcare NHS Trust), Neeti Ghali(London North West Healthcare NHS Trust), Susan Holder(London North West Healthcare NHS Trust), Rita Ibitoye(London North West Healthcare NHS Trust), Emma Wakeling, Edward Blair, Jenny Carmichael, Deirdre Cilliers, Susan Clasper, Richard J. Gibbons, Usha Kini, Tracy Lester, Andrea H. Németh, Joanna Poulton, Sue Price, Debbie Shears, Helen Stewart, Andrew O.M. Wilkie(Sheffield Children's NHS Foundation Trust), Shadi Albaba(Sheffield Children's NHS Foundation Trust), Duncan Baker(Sheffield Children's NHS Foundation Trust), Meena Balasubramanian(Sheffield Children's NHS Foundation Trust), Diana Johnson(Sheffield Children's NHS Foundation Trust), Michael Parker(Sheffield Children's NHS Foundation Trust), Oliver Quarrell(Sheffield Children's NHS Foundation Trust), A. Stewart(Sheffield Children's NHS Foundation Trust), Josh Willoughby(St George's, University of London), Charlene Crosby(St George's, University of London), Frances Elmslie(St George's, University of London), Tessa Homfray(St George's, University of London), Huilin Jin(St George's, University of London), Nayana Lahiri(St George's, University of London), Sahar Mansour(St George's, University of London), Karen Marks(St George's, University of London), Meriel McEntagart(St George's, University of London), Anand Saggar(St George's, University of London), Kate Tatton‐Brown(Glan Clwyd Hospital), Rachel Butler(Glan Clwyd Hospital), Angus Clarke(Glan Clwyd Hospital), Sian Corrin(Glan Clwyd Hospital), Andrew E. Fry(Glan Clwyd Hospital), Arveen Kamath(Glan Clwyd Hospital), Emma McCann(Glan Clwyd Hospital), Hood Mugalaasi(Glan Clwyd Hospital), Caroline Pottinger(Glan Clwyd Hospital), Annie Procter(Glan Clwyd Hospital), Julian R. Sampson(Glan Clwyd Hospital), Francis H. Sansbury(Glan Clwyd Hospital), Vinod Varghese(Salisbury District Hospital), Diana Baralle(Salisbury District Hospital), Alison Callaway(Salisbury District Hospital), Emma J. Cassidy(Salisbury District Hospital), Stacey Daniels(Salisbury District Hospital), Andrew G. L. Douglas(Salisbury District Hospital), Nicola Foulds(Salisbury District Hospital), David Hunt(Salisbury District Hospital), Mira Kharbanda(Salisbury District Hospital), Katherine Lachlan(Salisbury District Hospital), Catherine Mercer(Salisbury District Hospital), Lucy Side(Salisbury District Hospital), I. Karen Temple(Salisbury District Hospital), Diana Wellesley(Radboud University Nijmegen), Lisenka E.L.M. Vissers(Radboud University Nijmegen), Jane Juusola(University of Exeter), Caroline F. Wright(University of Exeter), Han G. Brunner(Radboud University Nijmegen), Helen V. Firth(Western General Hospital), David Fitzpatrick(Western General Hospital), Jeffrey C. Barrett(Wellcome Sanger Institute), Matthew E. Hurles(Radboud University Nijmegen), Christian Gilissen(Radboud University Nijmegen), Kyle Retterer

Nature

October 14, 2020

10.1038/s41586-020-2832-5

Cited by 665Open Access

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