Evidence for 28 genetic disorders discovered by combining healthcare and research data-Reference-Cited by-同舟云学术

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

Published:2020-10-14 Issue:7831 Volume:586 Page:757-762
ISSN:0028-0836
Container-title:Nature
language:en
Short-container-title:Nature

Author:

Kaplanis Joanna,Samocha Kaitlin E.^ORCID,Wiel Laurens^ORCID,Zhang Zhancheng,Arvai Kevin J.^ORCID,Eberhardt Ruth Y.^ORCID,Gallone Giuseppe,Lelieveld Stefan H.,Martin Hilary C.,McRae Jeremy F.^ORCID,Short Patrick J.,Torene Rebecca I.,de Boer Elke^ORCID,Danecek Petr,Gardner Eugene J.^ORCID,Huang Ni,Lord Jenny^ORCID,Martincorena Iñigo,Pfundt Rolph,Reijnders Margot R. F.,Yeung Alison,Yntema Helger G.,Borras Silvia,Clark Caroline,Dean John,Miedzybrodzka Zosia,Ross Alison,Tennant Stephen,Dabir Tabib,Donnelly Deirdre,Humphreys Mervyn,Magee Alex,McConnell Vivienne,McKee Shane,McNerlan Susan,Morrison Patrick J.,Rea Gillian,Stewart Fiona,Cole Trevor,Cooper Nicola,Cooper-Charles Lisa,Cox Helen,Islam Lily,Jarvis Joanna,Keelagher Rebecca,Lim Derek,McMullan Dominic,Morton Jenny,Naik Swati,O’Driscoll Mary,Ong Kai-Ren,Osio Deborah,Ragge Nicola,Turton Sarah,Vogt Julie,Williams Denise,Bodek Simon,Donaldson Alan,Hills Alison,Low Karen,Newbury-Ecob Ruth,Norman Andrew M.,Roberts Eileen,Scurr Ingrid,Smithson Sarah,Tooley Madeleine,Abbs Steve,Armstrong Ruth,Dunn Carolyn,Holden Simon,Park Soo-Mi,Paterson Joan,Raymond Lucy,Reid Evan,Sandford Richard,Simonic Ingrid,Tischkowitz Marc,Woods Geoff,Bradley Lisa,Comerford Joanne,Green Andrew,Lynch Sally,McQuaid Shirley,Mullaney Brendan,Berg Jonathan,Goudie David,Mavrak Eleni,McLean Joanne,McWilliam Catherine,Reavey Eleanor,Azam Tara,Cleary Elaine,Jackson Andrew,Lam Wayne,Lampe Anne,Moore David,Porteous Mary,Baple Emma,Baptista Júlia,Brewer Carole,Castle Bruce,Kivuva Emma,Owens Martina,Rankin Julia,Shaw-Smith Charles,Turner Claire,Turnpenny Peter,Tysoe Carolyn,Bradley Therese,Davidson Rosemarie,Gardiner Carol,Joss Shelagh,Kinning Esther,Longman Cheryl,McGowan Ruth,Murday Victoria,Pilz Daniela,Tobias Edward,Whiteford Margo,Williams Nicola,Barnicoat Angela,Clement Emma,Faravelli Francesca,Hurst Jane,Jenkins Lucy,Jones Wendy,Kumar V. K. Ajith,Lees Melissa,Loughlin Sam,Male Alison,Morrogh Deborah,Rosser Elisabeth,Scott Richard,Wilson Louise,Beleza Ana,Deshpande Charu,Flinter Frances,Holder Muriel,Irving Melita,Izatt Louise,Josifova Dragana,Mohammed Shehla,Molenda Aneta,Robert Leema,Roworth Wendy,Ruddy Deborah,Ryten Mina,Yau Shu,Bennett Christopher,Blyth Moira,Campbell Jennifer,Coates Andrea,Dobbie Angus,Hewitt Sarah,Hobson Emma,Jackson Eilidh,Jewell Rosalyn,Kraus Alison,Prescott Katrina,Sheridan Eamonn,Thomson Jenny,Bradshaw Kirsty,Dixit Abhijit,Eason Jacqueline,Haines Rebecca,Harrison Rachel,Mutch Stacey,Sarkar Ajoy,Searle Claire,Shannon Nora,Sharif Abid,Suri Mohnish,Vasudevan Pradeep,Canham Natalie,Ellis Ian,Greenhalgh Lynn,Howard Emma,Stinton Victoria,Swale Andrew,Weber Astrid,Banka Siddharth,Breen Catherine,Briggs Tracy,Burkitt-Wright Emma,Chandler Kate,Clayton-Smith Jill,Donnai Dian,Douzgou Sofia,Gaunt Lorraine,Jones Elizabeth,Kerr Bronwyn,Langley Claire,Metcalfe Kay,Smith Audrey,Wright Ronnie,Bourn David,Burn John,Fisher Richard,Hellens Steve,Henderson Alex,Montgomery Tara,Splitt Miranda,Straub Volker,Wright Michael,Zwolinski Simon,Allen Zoe,Bernhard Birgitta,Brady Angela,Brooks Claire,Busby Louise,Clowes Virginia,Ghali Neeti,Holder Susan,Ibitoye Rita,Wakeling Emma,Blair Edward,Carmichael Jenny,Cilliers Deirdre,Clasper Susan,Gibbons Richard,Kini Usha,Lester Tracy,Nemeth Andrea,Poulton Joanna,Price Sue,Shears Debbie,Stewart Helen,Wilkie Andrew,Albaba Shadi,Baker Duncan,Balasubramanian Meena,Johnson Diana,Parker Michael,Quarrell Oliver,Stewart Alison,Willoughby Josh,Crosby Charlene,Elmslie Frances,Homfray Tessa,Jin Huilin,Lahiri Nayana,Mansour Sahar,Marks Karen,McEntagart Meriel,Saggar Anand,Tatton-Brown Kate,Butler Rachel,Clarke Angus,Corrin Sian,Fry Andrew,Kamath Arveen,McCann Emma,Mugalaasi Hood,Pottinger Caroline,Procter Annie,Sampson Julian,Sansbury Francis,Varghese Vinod,Baralle Diana,Callaway Alison,Cassidy Emma J.,Daniels Stacey,Douglas Andrew,Foulds Nicola,Hunt David,Kharbanda Mira,Lachlan Katherine,Mercer Catherine,Side Lucy,Temple I. Karen,Wellesley Diana,Vissers Lisenka E. L. M.,Juusola Jane,Wright Caroline F.,Brunner Han G.,Firth Helen V.,FitzPatrick David R.,Barrett Jeffrey C.,Hurles Matthew E.^ORCID,Gilissen Christian^ORCID,Retterer Kyle,

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

https://www.nature.com/articles/s41586-020-2832-5.pdf

Reference34 articles.

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2. Martin, H. C. et al. Quantifying the contribution of recessive coding variation to developmental disorders. Science 362, 1161–1164 (2018).

3. Kircher, M. et al. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46, 310–315 (2014).

4. Samocha, K. E. et al. Regional missense constraint improves variant deleteriousness prediction. Preprint at https://doi.org/10.1101/148353 (2017).

5. Kosmicki, J. A. et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat. Genet. 49, 504–510 (2017).

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