Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multi...
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
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Author / Creator
Stranneheim, Henrik , Lagerstedt-Robinson, Kristina , Magnusson, Måns , Kvarnung, Malin , Nilsson, Daniel , Lesko, Nicole , Engvall, Martin , Anderlid, Britt-Marie , Arnell, Henrik , Johansson, Carolina Backman , Barbaro, Michela , Björck, Erik , Bruhn, Helene , Eisfeldt, Jesper , Freyer, Christoph , Grigelioniene, Giedre , Gustavsson, Peter , Hammarsjö, Anna , Hellström-Pigg, Maritta , Iwarsson, Erik , Jemt, Anders , Laaksonen, Mikael , Enoksson, Sara Lind , Malmgren, Helena , Naess, Karin , Nordenskjöld, Magnus , Oscarson, Mikael , Pettersson, Maria , Rasi, Chiara , Rosenbaum, Adam , Sahlin, Ellika , Sardh, Eliane , Stödberg, Tommy , Tesi, Bianca , Tham, Emma , Thonberg, Håkan , Töhönen, Virpi , von Döbeln, Ulrika , Vassiliou, Daphne , Vonlanthen, Sofie , Wikström, Ann-Charlotte , Wincent, Josephine , Winqvist, Ola , Wredenberg, Anna , Ygberg, Sofia , Zetterström, Rolf H. , Marits, Per , Soller, Maria Johansson , Nordgren, Ann , Wirta, Valtteri , Lindstrand, Anna and Wedell, Anna
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
We report the findings from 4437 individuals (3219 patients and 1218 relatives) who have been analyzed by whole genome sequencing (WGS) at the Genomic Medicine Center Karolinska-Rare Diseases (GMCK-RD) since mid-2015. GMCK-RD represents a long-term collaborative initiative between Karolinska University Hospital and Science for Life Laboratory to es...
Alternative Titles
Full title
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients
Authors, Artists and Contributors
Author / Creator
Lagerstedt-Robinson, Kristina
Magnusson, Måns
Kvarnung, Malin
Nilsson, Daniel
Lesko, Nicole
Engvall, Martin
Anderlid, Britt-Marie
Arnell, Henrik
Johansson, Carolina Backman
Barbaro, Michela
Björck, Erik
Bruhn, Helene
Eisfeldt, Jesper
Freyer, Christoph
Grigelioniene, Giedre
Gustavsson, Peter
Hammarsjö, Anna
Hellström-Pigg, Maritta
Iwarsson, Erik
Jemt, Anders
Laaksonen, Mikael
Enoksson, Sara Lind
Malmgren, Helena
Naess, Karin
Nordenskjöld, Magnus
Oscarson, Mikael
Pettersson, Maria
Rasi, Chiara
Rosenbaum, Adam
Sahlin, Ellika
Sardh, Eliane
Stödberg, Tommy
Tesi, Bianca
Tham, Emma
Thonberg, Håkan
Töhönen, Virpi
von Döbeln, Ulrika
Vassiliou, Daphne
Vonlanthen, Sofie
Wikström, Ann-Charlotte
Wincent, Josephine
Winqvist, Ola
Wredenberg, Anna
Ygberg, Sofia
Zetterström, Rolf H.
Marits, Per
Soller, Maria Johansson
Nordgren, Ann
Wirta, Valtteri
Lindstrand, Anna
Wedell, Anna
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_24239a4e507a406db912b81371637d5d
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_24239a4e507a406db912b81371637d5d
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-021-00855-5
