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Precision medicine in rare diseases: What is next?

22 May 2023

Abstract excerpt

Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood as tailoring an individual's treatment, follow-up, and care based on molecular data. In rare diseases (RDs), molecular diagnoses reveal valuable information about the cause of symptoms, disease progression, familial risk, and in certain cases, unlock access to targeted therapies. Due to decreasing DNA sequencing costs, genome...

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PMID: 37211972
DOI: 10.1111/joim.13655

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