Genetic diagnosis of Mendelian disorders via RNA sequencing

@inproceedings{Kremer2017GeneticDO,
  title={Genetic diagnosis of Mendelian disorders via RNA sequencing},
  author={Laura S. Kremer and Daniel M Bader and Christian Mertes and Robert Kopajtich and Garwin Pichler and Arcangela Iuso and Tobias B. Haack and Elisabeth Graf and Thomas Schwarzmayr and Caterina Terrile and Eli{\vs}ka Koňař{\'i}kov{\'a} and Birgit M. Repp and Gabi Kastenm{\"u}ller and Jerzy Adamski and Peter Lichtner and Christoph Leonhardt and Beno{\^i}t Funalot and Alice Maria Donati and Valeria Tiranti and Anne Lombes and Claude Jardel and Dieter Glaeser and Robert W Taylor and Daniele Ghezzi and Johannes A Mayr and Agn{\`e}s R{\"o}tig and Peter Freisinger and Felix Distelmaier and Tim Matthias Strom and Thomas Meitinger and Julien Gagneur and Holger Prokisch},
  booktitle={Nature communications},
  year={2017}
}
Across a variety of Mendelian disorders, ∼50-75% of patients do not receive a genetic diagnosis by exome sequencing indicating disease-causing variants in non-coding regions. Although genome sequencing in principle reveals all genetic variants, their sizeable number and poorer annotation make prioritization challenging. Here, we demonstrate the power of transcriptome sequencing to molecularly diagnose 10% (5 of 48) of mitochondriopathy patients and identify candidate genes for the remainder. We… CONTINUE READING
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