Review: Utility of mass spectrometry in rare disease research and diagnosis

Abstract Individuals affected by a rare disease often experience a long and arduous diagnostic odyssey. Delivery of genetic answers in a timely manner is critical to affected individuals and their families. Multi-omics, a term which usually encompasses genomics, transcriptomics, proteomics, metabolo...

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Bibliographic Details
Main Authors: Teresa Zhao, Daniella H. Hock, James Pitt, David R. Thorburn, David A. Stroud, John Christodoulou
Format: Article
Language:English
Published: Nature Portfolio 2025-03-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-025-00487-3
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