Nature Communications (Jun 2017)
Genetic diagnosis of Mendelian disorders via RNA sequencing
- Laura S. Kremer,
- Daniel M. Bader,
- Christian Mertes,
- Robert Kopajtich,
- Garwin Pichler,
- Arcangela Iuso,
- Tobias B. Haack,
- Elisabeth Graf,
- Thomas Schwarzmayr,
- Caterina Terrile,
- Eliška Koňaříková,
- Birgit Repp,
- Gabi Kastenmüller,
- Jerzy Adamski,
- Peter Lichtner,
- Christoph Leonhardt,
- Benoit Funalot,
- Alice Donati,
- Valeria Tiranti,
- Anne Lombes,
- Claude Jardel,
- Dieter Gläser,
- Robert W. Taylor,
- Daniele Ghezzi,
- Johannes A. Mayr,
- Agnes Rötig,
- Peter Freisinger,
- Felix Distelmaier,
- Tim M. Strom,
- Thomas Meitinger,
- Julien Gagneur,
- Holger Prokisch
Affiliations
- Laura S. Kremer
- Institute of Human Genetics, Helmholtz Zentrum München
- Daniel M. Bader
- Department of Informatics, Technische Universität München
- Christian Mertes
- Department of Informatics, Technische Universität München
- Robert Kopajtich
- Institute of Human Genetics, Helmholtz Zentrum München
- Garwin Pichler
- Department of Proteomics and Signal Transduction, Max-Planck Institute of Biochemistry
- Arcangela Iuso
- Institute of Human Genetics, Helmholtz Zentrum München
- Tobias B. Haack
- Institute of Human Genetics, Helmholtz Zentrum München
- Elisabeth Graf
- Institute of Human Genetics, Helmholtz Zentrum München
- Thomas Schwarzmayr
- Institute of Human Genetics, Helmholtz Zentrum München
- Caterina Terrile
- Institute of Human Genetics, Helmholtz Zentrum München
- Eliška Koňaříková
- Institute of Human Genetics, Helmholtz Zentrum München
- Birgit Repp
- Institute of Human Genetics, Helmholtz Zentrum München
- Gabi Kastenmüller
- Institute of Bioinformatics and Systems Biology, Helmholtz Zentrum München
- Jerzy Adamski
- Institute of Experimental Genetics, Genome Analysis Center, Helmholtz Zentrum München, German Research Center for Environmental Health
- Peter Lichtner
- Institute of Human Genetics, Helmholtz Zentrum München
- Christoph Leonhardt
- Neuropädiatrie, Neonatologie
- Benoit Funalot
- INSERM U1163, Université Paris Descartes—Sorbonne Paris Cité, Institut Imagine
- Alice Donati
- Metabolic Unit, A. Meyer Children’s Hospital
- Valeria Tiranti
- Unit of Molecular Neurogenetics, Foundation IRCCS (Istituto di Ricovero e Cura a Carettere Scientifico) Neurological Institute ‘Carlo Besta’
- Anne Lombes
- Inserm UMR 1016, Institut Cochin
- Claude Jardel
- Inserm UMR 1016, Institut Cochin
- Dieter Gläser
- Genetikum, Genetic Counseling and Diagnostics
- Robert W. Taylor
- Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University
- Daniele Ghezzi
- Unit of Molecular Neurogenetics, Foundation IRCCS (Istituto di Ricovero e Cura a Carettere Scientifico) Neurological Institute ‘Carlo Besta’
- Johannes A. Mayr
- Department of Pediatrics, Paracelsus Medical University
- Agnes Rötig
- INSERM U1163, Université Paris Descartes—Sorbonne Paris Cité, Institut Imagine
- Peter Freisinger
- Department of Pediatrics, Klinikum Reutlingen
- Felix Distelmaier
- Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children’s Hospital, Heinrich-Heine-University Düsseldorf
- Tim M. Strom
- Institute of Human Genetics, Helmholtz Zentrum München
- Thomas Meitinger
- Institute of Human Genetics, Helmholtz Zentrum München
- Julien Gagneur
- Department of Informatics, Technische Universität München
- Holger Prokisch
- Institute of Human Genetics, Helmholtz Zentrum München
- DOI
- https://doi.org/10.1038/ncomms15824
- Journal volume & issue
-
Vol. 8,
no. 1
pp. 1 – 11
Abstract
Genome sequencing alone fails to provide a genetic diagnosis for many Mendelian disorder patients. Here, the authors utilize RNA sequencing to complement genotyping of patients with a rare mitochondrial disease by detecting aberrant RNA expression, splicing and allele-specific expression.
