Genetic diagnosis of Mendelian disorders via RNA sequencing
Laura Sophie Kremer, Daniel M. Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B. Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile, Eliška Koňaříková, Birgit M. Repp, Gabi Kastenmüller, Jerzy Adamski, Peter Lichtner, , Holger Prokisch
This study uses RNA sequencing to identify genetic diagnoses in mitochondrial disease patients by detecting aberrant gene expression and splicing events.
Nature Communications · Jun 12, 2017Peer-reviewedGenetics