The case for including proteomics in routine diagnostic practice for rare disease

Abstract 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 shor...

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Bibliographic Details
Main Author: Elizabeth M. McCormick
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Genome Medicine
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Online Access:https://doi.org/10.1186/s13073-025-01491-z
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