Additional file 2 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases
| Title: | Additional file 2 of Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases |
|---|---|
| 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; 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 |
| Publication Year: | 2025 |
| Subject Terms: | Genetics; Proteomics; Genetic diagnostics; Mendelian disease; Ultra-rapid genome sequencing; Variant prioritisation |
| Description: | Additional file 2. Detailed clinical history of VC15 (UQCRC2) and VC24 (FARS2), Figure S1. Heatmaps and hierarchical clustering of the validation cohort (VC), Figure S2. Protein correlation between cell lines in the validation cohort (VC) and knockout cohort (KC), Figure S3. Mitochondrial abundance, citrate synthase abundance and activity, Figure S4. Relative Complex Abundance (RCA) of OXPHOS complexes in the validation cohort (VC), Figure S5. Orthogonal testing and analysis of undiagnosed cohort and supporting cohort samples. |
| Document Type: | article in journal/newspaper |
| Language: | unknown |
| DOI: | 10.6084/m9.figshare.29124410.v1 |
| Availability: | https://doi.org/10.6084/m9.figshare.29124410.v1; https://figshare.com/articles/journal_contribution/Additional_file_2_of_Untargeted_proteomics_enables_ultra-rapid_variant_prioritisation_in_mitochondrial_and_other_rare_diseases/29124410 |
| Rights: | CC BY |
| Accession Number: | edsbas.72F8CCCB |
| Database: | BASE |