First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing
There is discussion of expanding newborn screening (NBS) through the use of genomic sequence data; yet, challenges remain in the interpretation of DNA variants. Population-level DNA variant databases are available, and it is possible to estimate the number of newborns who would be flagged as having...
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| Principais autores: | , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2023-01-01
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| Serier: | Genetics in Medicine Open |
| Fag: | |
| Online adgang: | http://www.sciencedirect.com/science/article/pii/S2949774423008300 |
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