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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Clinical whole-genome sequencing (WGS) offers clear diagnostic benefits for patients with rare disease. However, there are barriers to its widespread adoption, including a lack of standards for clinical practice. The Medical Genome Initiative consortium was formed to provide practical guidance and s...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genome Med |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BioMed Central
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7254704/ https://ncbi.nlm.nih.gov/pubmed/32460895 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00748-z |
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