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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-11-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-021-02116-5 |