Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing...
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
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Author / Creator
Pagnamenta, Alistair T. , Camps, Carme , Giacopuzzi, Edoardo , Taylor, John M. , Hashim, Mona , Calpena, Eduardo , Kaisaki, Pamela J. , Hashimoto, Akiko , Yu, Jing , Sanders, Edward , Schwessinger, Ron , Hughes, Jim R. , Lunter, Gerton , Dreau, Helene , Ferla, Matteo , Lange, Lukas , Kesim, Yesim , Ragoussis, Vassilis , Vavoulis, Dimitrios V. , Allroggen, Holger , Ansorge, Olaf , Babbs, Christian , Banka, Siddharth , Baños-Piñero, Benito , Beeson, David , Ben-Ami, Tal , Bennett, David L. , Bento, Celeste , Blair, Edward , Brasch-Andersen, Charlotte , Bull, Katherine R. , Cario, Holger , Cilliers, Deirdre , Conti, Valerio , Davies, E. Graham , Dhalla, Fatima , Dacal, Beatriz Diez , Dong, Yin , Dunford, James E. , Guerrini, Renzo , Harris, Adrian L. , Hartley, Jane , Hollander, Georg , Javaid, Kassim , Kane, Maureen , Kelly, Deirdre , Kelly, Dominic , Knight, Samantha J. L. , Kreins, Alexandra Y. , Kvikstad, Erika M. , Langman, Craig B. , Lester, Tracy , Lines, Kate E. , Lord, Simon R. , Lu, Xin , Mansour, Sahar , Manzur, Adnan , Maroofian, Reza , Marsden, Brian , Mason, Joanne , McGowan, Simon J. , Mei, Davide , Mlcochova, Hana , Murakami, Yoshiko , Németh, Andrea H. , Okoli, Steven , Ormondroyd, Elizabeth , Ousager, Lilian Bomme , Palace, Jacqueline , Patel, Smita Y. , Pentony, Melissa M. , Pugh, Chris , Rad, Aboulfazl , Ramesh, Archana , Riva, Simone G. , Roberts, Irene , Roy, Noémi , Salminen, Outi , Schilling, Kyleen D. , Scott, Caroline , Sen, Arjune , Smith, Conrad , Stevenson, Mark , Thakker, Rajesh V. , Twigg, Stephen R. F. , Uhlig, Holm H. , van Wijk, Richard , Vona, Barbara , Wall, Steven , Wang, Jing , Watkins, Hugh , Zak, Jaroslav , Schuh, Anna H. , Kini, Usha , Wilkie, Andrew O. M. , Popitsch, Niko and Taylor, Jenny C.
Publisher
England: Springer Science and Business Media LLC
Journal title
Language
English
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Publisher
England: Springer Science and Business Media LLC
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More information
Scope and Contents
Contents
Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico ge...
Alternative Titles
Full title
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
Authors, Artists and Contributors
Author / Creator
Camps, Carme
Giacopuzzi, Edoardo
Taylor, John M.
Hashim, Mona
Calpena, Eduardo
Kaisaki, Pamela J.
Hashimoto, Akiko
Yu, Jing
Sanders, Edward
Schwessinger, Ron
Hughes, Jim R.
Lunter, Gerton
Dreau, Helene
Ferla, Matteo
Lange, Lukas
Kesim, Yesim
Ragoussis, Vassilis
Vavoulis, Dimitrios V.
Allroggen, Holger
Ansorge, Olaf
Babbs, Christian
Banka, Siddharth
Baños-Piñero, Benito
Beeson, David
Ben-Ami, Tal
Bennett, David L.
Bento, Celeste
Blair, Edward
Brasch-Andersen, Charlotte
Bull, Katherine R.
Cario, Holger
Cilliers, Deirdre
Conti, Valerio
Davies, E. Graham
Dhalla, Fatima
Dacal, Beatriz Diez
Dong, Yin
Dunford, James E.
Guerrini, Renzo
Harris, Adrian L.
Hartley, Jane
Hollander, Georg
Javaid, Kassim
Kane, Maureen
Kelly, Deirdre
Kelly, Dominic
Knight, Samantha J. L.
Kreins, Alexandra Y.
Kvikstad, Erika M.
Langman, Craig B.
Lester, Tracy
Lines, Kate E.
Lord, Simon R.
Lu, Xin
Mansour, Sahar
Manzur, Adnan
Maroofian, Reza
Marsden, Brian
Mason, Joanne
McGowan, Simon J.
Mei, Davide
Mlcochova, Hana
Murakami, Yoshiko
Németh, Andrea H.
Okoli, Steven
Ormondroyd, Elizabeth
Ousager, Lilian Bomme
Palace, Jacqueline
Patel, Smita Y.
Pentony, Melissa M.
Pugh, Chris
Rad, Aboulfazl
Ramesh, Archana
Riva, Simone G.
Roberts, Irene
Roy, Noémi
Salminen, Outi
Schilling, Kyleen D.
Scott, Caroline
Sen, Arjune
Smith, Conrad
Stevenson, Mark
Thakker, Rajesh V.
Twigg, Stephen R. F.
Uhlig, Holm H.
van Wijk, Richard
Vona, Barbara
Wall, Steven
Wang, Jing
Watkins, Hugh
Zak, Jaroslav
Schuh, Anna H.
Kini, Usha
Wilkie, Andrew O. M.
Popitsch, Niko
Taylor, Jenny C.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c9f00f4d0c70402d8c69f3f7e4981fbc
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c9f00f4d0c70402d8c69f3f7e4981fbc
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-023-01240-0
