Genomic Sequencing as a First-Tier Screening Test and Outcomes of Newborn Screening.
JAMA network open（2023）
摘要
In this cohort study, the use of gene panel sequencing in a general newborn population as a first-tier screening test improved the detection capability of traditional screening, providing an evidence-based suggestion that it could be considered as a crucial method for first-tier screening.
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关键词
newborn screening,sequencing,test,first-tier
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