Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
Abstract Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of...
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| Auteurs principaux: | , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
| Publié: |
Nature Portfolio
2017
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| Accès en ligne: | https://doaj.org/article/7b114791b2e44d7cabd2c2fc9832f309 |
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