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NeoSeq: a new method of genomic sequencing for newborn screening

18 Nov 2021

Abstract excerpt

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 cases (FPC), and 100 negative cases. The dried blood spots of the infants were analyzed with NeoSeq, which is based on...

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PMID: 34794485
DOI: 10.1186/s13023-021-02116-5

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