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Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
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 integ...
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| Pubblicato in: | Genet Med |
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| Autori principali: | , , , , , , , , , , , , , , , , , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Nature Publishing Group US
2021
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8187150/ https://ncbi.nlm.nih.gov/pubmed/33547396 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01096-4 |
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