Publication: Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
Date
Date
Date
Citations
Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T., … et al. (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Medicine, 14, 38. https://doi.org/10.1186/s13073-022-01019-9
Abstract
Abstract
Abstract
BACKGROUND: 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, collection of additional biopsies and establishment of lab workflows, analytical pipelines, and defined concepts in clinical interpretation of aberrant gene expression are still ne
Additional indexing
Creators (Authors)
- 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
- 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
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Item Type
Item Type
Item Type
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Citations
Yépez, V. A., Gusic, M., Kopajtich, R., Mertes, C., Smith, N. H., Alston, C. L., Ban, R., Beblo, S., Berutti, R., Blessing, H., Ciara, E., Distelmaier, F., Freisinger, P., Häberle, J., Hayflick, S. J., Hempel, M., Itkis, Y. S., Kishita, Y., Klopstock, T., … et al. (2022). Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Medicine, 14, 38. https://doi.org/10.1186/s13073-022-01019-9
