Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases

Hock, Daniella H, Caruana, Nikeisha ORCID logoORCID: https://orcid.org/0000-0002-0817-1686, Semcesen, Liana N, Lake, Nicole J, Formosa, Luke E ORCID logoORCID: https://orcid.org/0000-0002-7740-6151, Amarasekera, Sumudu SC, Stait, Tegan, Tregoning, Simone, Frajman, Leah E, Bournazos, Adam M, Robinson, David RL, Ball, Megan, Reljic, Boris ORCID logoORCID: https://orcid.org/0000-0002-4655-8478, Ryder, Bryony, Wallis, Mathew J, Vasudevan, Anand, Beck, Cara, Peters, Heidi, Lee, Joy, Tan, Natalie B, Freckmann, Mary-Louise, Harris, Madeleine, Martin, Ellenore M, McGrath, Pauline, Atthow, Catherine, Elbaum, Yoni, MacArthur, Daniel G, Balasubramaniam, Shanti, Siira, Stefan J, Simons, Cas ORCID logoORCID: https://orcid.org/0000-0003-3147-8042, Sallevelt, Suzanne CEH, Ghaoui, Roula, Davis, Ryan L, Murray, Sean, Coman, David, Stojanovski, Diana, Filipovska, Aleksandra, Karlaftis, Vasiliki, Attard, Chantal, Monagle, Paul, Samarasinghe, Amanda, Brown, Rosie, Bi, Weimin, Lek, Monkol, McFarland, Robert, Taylor, Robert, Ryan, Michael T, Cooper, Sandra T, Stark, Zornitza, Christodoulou, John ORCID logoORCID: https://orcid.org/0000-0002-8431-0641, Compton, Alison G, Thorburn, David ORCID logoORCID: https://orcid.org/0000-0002-7725-9470 and Stroud, David A ORCID logoORCID: https://orcid.org/0000-0002-2048-3383 (2025) Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases. Genome Medicine, 17 (1). ISSN 1756-994X

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Item type Article
URI https://vuir.vu.edu.au/id/eprint/49643
DOI 10.1186/s13073-025-01467-z
Official URL https://doi.org/10.1186/s13073-025-01467-z
Subjects Current > FOR (2020) Classification > 3105 Genetics
Current > FOR (2020) Classification > 3202 Clinical sciences
Current > Division/Research > Institute for Health and Sport
Keywords proteomics; genetic diagnostics; mendelian disease; ultra-rapid genome sequencing; variant prioritisation
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