Refinement of newborn screening for cystic fibrosis with next generation sequencing (vol 58, pg 778, 2023)
Pediatric pulmonology（2023）
摘要
NGS can be used with IRT as an effective method of identifying infants at risk for CF without an appreciable increase in detection of carriers. Its potential added value includes facilitating equity, enhancing sensitivity and detecting more CF patients with 2-variants during the screening process.
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关键词
cystic fibrosis,cystic fibrosis transmembrane conductance regulator gene,immunoreactive trysinogen,newborn screening,next generation sequencing
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