Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists
Abstract Background In recent years, the amount of genomic data produced in clinical genetics services has increased significantly due to the advent of next-generation sequencing. This influx of genomic information leads to continuous changes in knowledge on how genetic variants relate to hereditary...
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| Autori principali: | , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
BMC
2019-11-01
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| Serie: | BMC Medical Genomics |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1186/s12920-019-0612-6 |
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