Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders
Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, Martina Bucher, Felix Distelmaier, Elisabeth Graf, Mirjana Gušić, Maja Hempel, , Holger Prokisch
Adding tandem mass tag proteomics to genome and transcriptome data resolved 22% of 121 unsolved suspected mitochondrial disease cases and surfaced two new disease genes.
medRxiv · Mar 9, 2021 · PreprintGenetic & Genomic Medicine