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NeoSeq: a new method of genomic sequencing for newborn screening

OBJECTIVE: To explore the clinical application of NeoSeq in newborn screening. METHODS: Based on the results obtained from traditional newborn screening (NBS) with tandem mass spectrometry (TMS), three cohorts were recruited into the present study: 36 true positive cases (TPC), 60 false-positive cas...

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Detalles Bibliográficos
Autores principales: Wang, Huaiyan, Yang, Yuqi, Zhou, Lingna, Wang, Yu, Long, Wei, Yu, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600711/
https://www.ncbi.nlm.nih.gov/pubmed/34794485
http://dx.doi.org/10.1186/s13023-021-02116-5