Genetic diagnosis of Mendelian disorders via RNA sequencing

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 priori...

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Detalles Bibliográficos
Autores principales: Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499207/
https://www.ncbi.nlm.nih.gov/pubmed/28604674
http://dx.doi.org/10.1038/ncomms15824

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5499207/
https://www.ncbi.nlm.nih.gov/pubmed/28604674
http://dx.doi.org/10.1038/ncomms15824

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