Article

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

2024-08-07

Abstract excerpt

Only half of individuals with suspected rare diseases receive a definitive genetic diagnosis following genomic testing. A genetic diagnosis allows access to appropriate patient care and reduces the number of potentially unnecessary interventions and related healthcare costs. Here, we demonstrate that an untargeted quantitative mass-spectrometry approach quantifying >6,000 proteins in primary fibroblasts representi...

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Literature Corpus work: bacdedda-5e4a-5014-9a3c-54e0d5625b00
DOI: 10.1101/2024.08.06.24311318

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