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...

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Detalles Bibliográficos
Autores principales: Ruiz-Schultz, Nicole, Asay, Bryce, Rohrwasser, Andreas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Commentary
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544371/
https://www.ncbi.nlm.nih.gov/pubmed/34698050
http://dx.doi.org/10.3390/ijns7040063

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