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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

5 Feb 2021

Abstract excerpt

PURPOSE: We describe the clinical implementation of genome-wide DNA methylation analysis in rare disorders across the EpiSign diagnostic laboratory network and the assessment of results and clinical impact in the first subjects tested. METHODS: We outline the logistics and data flow between an integrated network of clinical diagnostics laboratories in Europe, the United States, and Canada. We describe the...

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PMID: 33547396
DOI: 10.1038/s41436-020-01096-4

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