Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
About this item
Full title
Author / Creator
Yépez, Vicente A , Gusic, Mirjana , Kopajtich, Robert , Mertes, Christian , Smith, Nicholas H , Alston, Charlotte L , Ban, Rui , Beblo, Skadi , Berutti, Riccardo , Blessing, Holger , Ciara, Elżbieta , Distelmaier, Felix , Freisinger, Peter , Häberle, Johannes , Hayflick, Susan J , Hempel, Maja , Itkis, Yulia S , Kishita, Yoshihito , Klopstock, Thomas , Krylova, Tatiana D , Lamperti, Costanza , Lenz, Dominic , Makowski, Christine , Mosegaard, Signe , Müller, Michaela F , Muñoz-Pujol, Gerard , Nadel, Agnieszka , Ohtake, Akira , Okazaki, Yasushi , Procopio, Elena , Schwarzmayr, Thomas , Smet, Joél , Staufner, Christian , Stenton, Sarah L , Strom, Tim M , Terrile, Caterina , Tort, Frederic , Van Coster, Rudy , Vanlander, Arnaud , Wagner, Matias , Xu, Manting , Fang, Fang , Ghezzi, Daniele , Mayr, Johannes A , Piekutowska-Abramczuk, Dorota , Ribes, Antonia , Rötig, Agnès , Taylor, Robert W , Wortmann, Saskia B , Murayama, Kei , Meitinger, Thomas , Gagneur, Julien and Prokisch, Holger
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Lack of functional evidence hampers variant interpretation, leaving a large proportion of individuals with a suspected Mendelian disorder without genetic diagnosis after whole genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. However, co...
Alternative Titles
Full title
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Authors, Artists and Contributors
Author / Creator
Gusic, Mirjana
Kopajtich, Robert
Mertes, Christian
Smith, Nicholas H
Alston, Charlotte L
Ban, Rui
Beblo, Skadi
Berutti, Riccardo
Blessing, Holger
Ciara, Elżbieta
Distelmaier, Felix
Freisinger, Peter
Häberle, Johannes
Hayflick, Susan J
Hempel, Maja
Itkis, Yulia S
Kishita, Yoshihito
Klopstock, Thomas
Krylova, Tatiana D
Lamperti, Costanza
Lenz, Dominic
Makowski, Christine
Mosegaard, Signe
Müller, Michaela F
Muñoz-Pujol, Gerard
Nadel, Agnieszka
Ohtake, Akira
Okazaki, Yasushi
Procopio, Elena
Schwarzmayr, Thomas
Smet, Joél
Staufner, Christian
Stenton, Sarah L
Strom, Tim M
Terrile, Caterina
Tort, Frederic
Van Coster, Rudy
Vanlander, Arnaud
Wagner, Matias
Xu, Manting
Fang, Fang
Ghezzi, Daniele
Mayr, Johannes A
Piekutowska-Abramczuk, Dorota
Ribes, Antonia
Rötig, Agnès
Taylor, Robert W
Wortmann, Saskia B
Murayama, Kei
Meitinger, Thomas
Gagneur, Julien
Prokisch, Holger
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_c84ca93f6ba94f7fa60fa360f03b6d83
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_c84ca93f6ba94f7fa60fa360f03b6d83
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-022-01019-9
