Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

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; Banos-Pinero, 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; Nemeth, 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, Noemi; 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.

dc.contributor.author	Rad, Aboulfazl
dc.contributor.author	Vona, Barbara
dc.date.accessioned	2024-05-14T05:54:19Z
dc.date.available	2024-05-14T05:54:19Z
dc.date.issued	2023
dc.identifier.issn	1756-994X
dc.identifier.uri	http://hdl.handle.net/10900/153319
dc.language.iso	en	de_DE
dc.publisher	London : Bmc	de_DE
dc.relation.uri	http://dx.doi.org/10.1186/s13073-023-01240-0	de_DE
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases	de_DE
dc.type	Article	de_DE
utue.quellen.id	20240124000000_00447
utue.personen.roh	Pagnamenta, Alistair T.
utue.personen.roh	Camps, Carme
utue.personen.roh	Giacopuzzi, Edoardo
utue.personen.roh	Taylor, John M.
utue.personen.roh	Hashim, Mona
utue.personen.roh	Calpena, Eduardo
utue.personen.roh	Kaisaki, Pamela J.
utue.personen.roh	Hashimoto, Akiko
utue.personen.roh	Yu, Jing
utue.personen.roh	Sanders, Edward
utue.personen.roh	Schwessinger, Ron
utue.personen.roh	Hughes, Jim R.
utue.personen.roh	Lunter, Gerton
utue.personen.roh	Dreau, Helene
utue.personen.roh	Ferla, Matteo
utue.personen.roh	Lange, Lukas
utue.personen.roh	Kesim, Yesim
utue.personen.roh	Ragoussis, Vassilis
utue.personen.roh	Vavoulis, Dimitrios V.
utue.personen.roh	Allroggen, Holger
utue.personen.roh	Ansorge, Olaf
utue.personen.roh	Babbs, Christian
utue.personen.roh	Banka, Siddharth
utue.personen.roh	Banos-Pinero, Benito
utue.personen.roh	Beeson, David
utue.personen.roh	Ben-Ami, Tal
utue.personen.roh	Bennett, David L.
utue.personen.roh	Bento, Celeste
utue.personen.roh	Blair, Edward
utue.personen.roh	Brasch-Andersen, Charlotte
utue.personen.roh	Bull, Katherine R.
utue.personen.roh	Cario, Holger
utue.personen.roh	Cilliers, Deirdre
utue.personen.roh	Conti, Valerio
utue.personen.roh	Davies, E. Graham
utue.personen.roh	Dhalla, Fatima
utue.personen.roh	Dacal, Beatriz Diez
utue.personen.roh	Dong, Yin
utue.personen.roh	Dunford, James E.
utue.personen.roh	Guerrini, Renzo
utue.personen.roh	Harris, Adrian L.
utue.personen.roh	Hartley, Jane
utue.personen.roh	Hollander, Georg
utue.personen.roh	Javaid, Kassim
utue.personen.roh	Kane, Maureen
utue.personen.roh	Kelly, Deirdre
utue.personen.roh	Kelly, Dominic
utue.personen.roh	Knight, Samantha J. L.
utue.personen.roh	Kreins, Alexandra Y.
utue.personen.roh	Kvikstad, Erika M.
utue.personen.roh	Langman, Craig B.
utue.personen.roh	Lester, Tracy
utue.personen.roh	Lines, Kate E.
utue.personen.roh	Lord, Simon R.
utue.personen.roh	Lu, Xin
utue.personen.roh	Mansour, Sahar
utue.personen.roh	Manzur, Adnan
utue.personen.roh	Maroofian, Reza
utue.personen.roh	Marsden, Brian
utue.personen.roh	Mason, Joanne
utue.personen.roh	McGowan, Simon J.
utue.personen.roh	Mei, Davide
utue.personen.roh	Mlcochova, Hana
utue.personen.roh	Murakami, Yoshiko
utue.personen.roh	Nemeth, Andrea H.
utue.personen.roh	Okoli, Steven
utue.personen.roh	Ormondroyd, Elizabeth
utue.personen.roh	Ousager, Lilian Bomme
utue.personen.roh	Palace, Jacqueline
utue.personen.roh	Patel, Smita Y.
utue.personen.roh	Pentony, Melissa M.
utue.personen.roh	Pugh, Chris
utue.personen.roh	Rad, Aboulfazl
utue.personen.roh	Ramesh, Archana
utue.personen.roh	Riva, Simone G.
utue.personen.roh	Roberts, Irene
utue.personen.roh	Roy, Noemi
utue.personen.roh	Salminen, Outi
utue.personen.roh	Schilling, Kyleen D.
utue.personen.roh	Scott, Caroline
utue.personen.roh	Sen, Arjune
utue.personen.roh	Smith, Conrad
utue.personen.roh	Stevenson, Mark
utue.personen.roh	Thakker, Rajesh V.
utue.personen.roh	Twigg, Stephen R. F.
utue.personen.roh	Uhlig, Holm H.
utue.personen.roh	van Wijk, Richard
utue.personen.roh	Vona, Barbara
utue.personen.roh	Wall, Steven
utue.personen.roh	Wang, Jing
utue.personen.roh	Watkins, Hugh
utue.personen.roh	Zak, Jaroslav
utue.personen.roh	Schuh, Anna H.
utue.personen.roh	Kini, Usha
utue.personen.roh	Wilkie, Andrew O. M.
utue.personen.roh	Popitsch, Niko
utue.personen.roh	Taylor, Jenny C.
dcterms.isPartOf.ZSTitelID	Genome Medicine	de_DE
dcterms.isPartOf.ZS-Issue	Article 94	de_DE
dcterms.isPartOf.ZS-Volume	15 (1)	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE