Genetic diagnosis of Mendelian disorders via RNA sequencing
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.
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Nature Portfolio
2017
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oai:doaj.org-article:97b8e0107e0d4933ba974f81bd5fa25a2021-12-02T14:41:58ZGenetic diagnosis of Mendelian disorders via RNA sequencing10.1038/ncomms158242041-1723https://doaj.org/article/97b8e0107e0d4933ba974f81bd5fa25a2017-06-01T00:00:00Zhttps://doi.org/10.1038/ncomms15824https://doaj.org/toc/2041-1723Genome 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.Laura S. KremerDaniel M. BaderChristian MertesRobert KopajtichGarwin PichlerArcangela IusoTobias B. HaackElisabeth GrafThomas SchwarzmayrCaterina TerrileEliška KoňaříkováBirgit ReppGabi KastenmüllerJerzy AdamskiPeter LichtnerChristoph LeonhardtBenoit FunalotAlice DonatiValeria TirantiAnne LombesClaude JardelDieter GläserRobert W. TaylorDaniele GhezziJohannes A. MayrAgnes RötigPeter FreisingerFelix DistelmaierTim M. StromThomas MeitingerJulien GagneurHolger ProkischNature PortfolioarticleScienceQENNature Communications, Vol 8, Iss 1, Pp 1-11 (2017) |
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DOAJ |
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DOAJ |
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EN |
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Science Q |
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Science Q 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 Genetic diagnosis of Mendelian disorders via RNA sequencing |
| description |
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. |
| format |
article |
| author |
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 |
| author_facet |
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 |
| author_sort |
Laura S. Kremer |
| title |
Genetic diagnosis of Mendelian disorders via RNA sequencing |
| title_short |
Genetic diagnosis of Mendelian disorders via RNA sequencing |
| title_full |
Genetic diagnosis of Mendelian disorders via RNA sequencing |
| title_fullStr |
Genetic diagnosis of Mendelian disorders via RNA sequencing |
| title_full_unstemmed |
Genetic diagnosis of Mendelian disorders via RNA sequencing |
| title_sort |
genetic diagnosis of mendelian disorders via rna sequencing |
| publisher |
Nature Portfolio |
| publishDate |
2017 |
| url |
https://doaj.org/article/97b8e0107e0d4933ba974f81bd5fa25a |
| work_keys_str_mv |
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