Newborn Genetic Screening—Still a Role for Sanger Sequencing in the Era of NGS
In the Norwegian newborn screening (NBS) program, genetic testing has been implemented as a second or third tier method for the majority of NBS disorders, significantly increasing positive predictive value (PPV). DNA is extracted from dried blood spot (DBS) filter cards. For monogenic disorders caus...
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| Auteurs principaux: | , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
MDPI AG
2023-12-01
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| Collection: | International Journal of Neonatal Screening |
| Sujets: | |
| Accès en ligne: | https://www.mdpi.com/2409-515X/9/4/67 |
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