Whole-genome sequencing of patients with rare diseases in a national health system
Whole-genome sequencing of patients with rare diseases in a national health system
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Author / Creator
Turro, Ernest , Astle, William , Megy, Karyn , Gräf, Stefan , Greene, Daniel , Shamardina, Olga , Allen, Hana Lango , Sanchis-Juan, Alba , Frontini, Mattia , Thys, Chantal , Stephens, Jonathan , Mapeta, Rutendo , Burren, Oliver , Downes, Kate , Haimel, Matthias , Tuna, Salih , Deevi, Sri , Aitman, Timothy , Bennett, David , Calleja, Paul , Carss, Keren , Caulfield, Mark , Chinnery, Patrick , Dixon, Peter , Gale, Daniel , James, Roger , Koziell, Ania , Laffan, Michael , Levine, Adam , Maher, Eamonn , Markus, Hugh , Morales, Joannella , Morrell, Nicholas , Mumford, Andrew , Ormondroyd, Elizabeth , Rankin, Stuart , Rendon, Augusto , Richardson, Sylvia , Roberts, Irene , Roy, Noemi , Saleem, Moin , Smith, Kenneth , Stark, Hannah , Tan, Rhea , Themistocleous, Andreas , Thrasher, Adrian , Watkins, Hugh , Webster, Andrew , Wilkins, Martin , Williamson, Catherine , Whitworth, James , Humphray, Sean , Bentley, David , Abbs, Stephen , Abulhoul, Lara , Adlard, Julian , Ahmed, Munaza , Alachkar, Hana , Allsup, David , Almeida-King, Jeff , Ancliff, Philip , Antrobus, Richard , Armstrong, Ruth , Arno, Gavin , Ashford, Sofie , Attwood, Anthony , Aurora, Paul , Babbs, Christian , Bacchelli, Chiara , Bakchoul, Tamam , Banka, Siddharth , Bariana, Tadbir , Barwell, Julian , Batista, Joana , Baxendale, Helen , Beales, Phil , Bierzynska, Agnieszka , Biss, Tina , Bitner-Glindzicz, Maria , Black, Graeme , Bleda, Marta , Blesneac, Iulia , Bockenhauer, Detlef , Bogaard, Harm , Bourne, Christian , Boyce, Sara , Bradley, John , Bragin, Eugene , Breen, Gerome , Brennan, Paul , Brewer, Carole , Brown, Matthew , Browning, Andrew , Browning, Michael , Buchan, Rachel , Buckland, Matthew , Bueser, Teofila , Diz, Carmen Bugarin , Burn, John and Burns, Siobhan
Publisher
Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
Nature Publishing Group
Subjects
More information
Alternative Titles
Full title
Whole-genome sequencing of patients with rare diseases in a national health system
Authors, Artists and Contributors
Author / Creator
Astle, William
Megy, Karyn
Gräf, Stefan
Greene, Daniel
Shamardina, Olga
Allen, Hana Lango
Sanchis-Juan, Alba
Frontini, Mattia
Thys, Chantal
Stephens, Jonathan
Mapeta, Rutendo
Burren, Oliver
Downes, Kate
Haimel, Matthias
Tuna, Salih
Deevi, Sri
Aitman, Timothy
Bennett, David
Calleja, Paul
Carss, Keren
Caulfield, Mark
Chinnery, Patrick
Dixon, Peter
Gale, Daniel
James, Roger
Koziell, Ania
Laffan, Michael
Levine, Adam
Maher, Eamonn
Markus, Hugh
Morales, Joannella
Morrell, Nicholas
Mumford, Andrew
Ormondroyd, Elizabeth
Rankin, Stuart
Rendon, Augusto
Richardson, Sylvia
Roberts, Irene
Roy, Noemi
Saleem, Moin
Smith, Kenneth
Stark, Hannah
Tan, Rhea
Themistocleous, Andreas
Thrasher, Adrian
Watkins, Hugh
Webster, Andrew
Wilkins, Martin
Williamson, Catherine
Whitworth, James
Humphray, Sean
Bentley, David
Abbs, Stephen
Abulhoul, Lara
Adlard, Julian
Ahmed, Munaza
Alachkar, Hana
Allsup, David
Almeida-King, Jeff
Ancliff, Philip
Antrobus, Richard
Armstrong, Ruth
Arno, Gavin
Ashford, Sofie
Attwood, Anthony
Aurora, Paul
Babbs, Christian
Bacchelli, Chiara
Bakchoul, Tamam
Banka, Siddharth
Bariana, Tadbir
Barwell, Julian
Batista, Joana
Baxendale, Helen
Beales, Phil
Bierzynska, Agnieszka
Biss, Tina
Bitner-Glindzicz, Maria
Black, Graeme
Bleda, Marta
Blesneac, Iulia
Bockenhauer, Detlef
Bogaard, Harm
Bourne, Christian
Boyce, Sara
Bradley, John
Bragin, Eugene
Breen, Gerome
Brennan, Paul
Brewer, Carole
Brown, Matthew
Browning, Andrew
Browning, Michael
Buchan, Rachel
Buckland, Matthew
Bueser, Teofila
Diz, Carmen Bugarin
Burn, John
Burns, Siobhan
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_hal_primary_oai_HAL_hal_04073559v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_04073559v1
Other Identifiers
ISSN
0028-0836
E-ISSN
1476-4687
DOI
10.1038/s41586-020-2434-2
