Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH, Caruana NJ, Semcesen LN, Lake NJ, Formosa LE, Amarasekera SSC, Stait T, Tregoning S, Frajman LE, Bournazos AM, Robinson DRL, Ball M, Reljic B, Ryder B, Wallis MJ, Vasudevan A, Beck C, Peters H, Lee J, Tan NB, Freckmann ML; MitoMDT Diagnostic Network for Genomics and Omics; Karlaftis V, Attard C, Monagle P, Samarasinghe A, Brown R, Bi W, Lek M, McFarland R, Taylor RW, Ryan MT, Cooper ST, Stark Z, Christodoulou J, Compton AG, Thorburn DR, Stroud DA.
Hock DH, et al. Among authors: robinson drl.
Genome Med. 2025 May 22;17(1):58. doi: 10.1186/s13073-025-01467-z.
Genome Med. 2025.
PMID: 40400026
Free PMC article.