NeoSeq: a new method of genomic sequencing for newborn screening

Abstract 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-posit...

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Bibliographic Details
Main Authors: Huaiyan Wang, Yuqi Yang, Lingna Zhou, Yu Wang, Wei Long, Bin Yu
Format: Article
Language:English
Published: BMC 2021-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-021-02116-5