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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| Autores principales: | , , , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Elsevier
2023-01-01
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| Colección: | Genetics in Medicine Open |
| Materias: | |
| Acceso en línea: | http://www.sciencedirect.com/science/article/pii/S2949774423008300 |
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