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

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

Abstract 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...

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Main Authors: Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Medicine
Subjects:
Proteomics
Genetic diagnostics
Mendelian disease
Ultra-rapid genome sequencing
Variant prioritisation
Online Access:https://doi.org/10.1186/s13073-025-01467-z
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