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The case for including proteomics in routine diagnostic practice for rare disease
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Journal Article
The case for including proteomics in routine diagnostic practice for rare disease
2025
Overview
Many people with rare diseases cannot access personalized therapies because they do not have a confirmed genetic diagnosis. Promising technologies including proteomics are underutilized in routine diagnostic practice. It is time to incorporate proteomics into the diagnostic workflow to shorten time to diagnosis and expand treatment options for rare disease.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
Subject
