Article
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Genome medicine - 22 May 2025
Hock Daniella H, Caruana Nikeisha J, Semcesen Liana N, Lake Nicole J, Formosa Luke E, Amarasekera Sumudu S C, Stait Tegan, Tregoning Simone, Frajman Leah E, Bournazos Adam M, Robinson David R L, Ball Megan, Reljic Boris, Ryder Bryony, Wallis Mathew J, Vasudevan Anand, Beck Cara, Peters Heidi, Lee Joy, Tan Natalie B, Freckmann Mary-Louise, Karlaftis Vasiliki, Attard Chantal, Monagle Paul, Samarasinghe Amanda, Brown Rosie, Bi Weimin, Lek Monkol, McFarland Robert, Taylor Robert W, Ryan Michael T, Cooper Sandra T, Stark Zornitza, Christodoulou John, Compton Alison G, Thorburn David R, Stroud David A
Abstract excerpt
BACKGROUND: Only half of individuals with suspected rare diseases receive a genetic diagnosis following genomic testing. A genetic diagnosis allows access to appropriate care, restores reproductive confidence and reduces the number of potentially unnecessary interventions. A major barrier is the lack of disease agnostic functional tests suitable for implementation in routine diagnostics that can provide evidence...
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