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Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing
Expansion of the newborn disorder panel requires the incorporation of new testing modalities. This is especially true for disorders lacking robust biomarkers for detection in primary screening methods and for disorders requiring genotyping or sequencing as a second-tier and/or diagnostic test. In th...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544371/ https://www.ncbi.nlm.nih.gov/pubmed/34698050 http://dx.doi.org/10.3390/ijns7040063 |