2020
DOI: 10.1101/2020.02.26.20024679
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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project

Abstract: Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems. Genomic sequencing can potentially expand the screening for rare hereditary disorders, but many questions surround its possible use for this purpose. We examined the use of exome sequencing (ES) for NBS in the North Carolina Newborn Exome Sequencing for Universal Screening (NC NE… Show more

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Cited by 18 publications
(35 citation statements)
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References 90 publications
(62 reference statements)
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“…To explore the effects of its clinical applications, we conducted a meta-analysis and comparison from a search of the literature (Table 3). Four groups have conducted studies since 2016, which include Newbie Seq 19 , NC NEXUS 15 , BabySeq 12 and Dale L' group 8 . All the studies were designed by combining a methodological comparison with the ndings from a retrospective cohort.…”
Section: Discussionmentioning
confidence: 99%
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“…To explore the effects of its clinical applications, we conducted a meta-analysis and comparison from a search of the literature (Table 3). Four groups have conducted studies since 2016, which include Newbie Seq 19 , NC NEXUS 15 , BabySeq 12 and Dale L' group 8 . All the studies were designed by combining a methodological comparison with the ndings from a retrospective cohort.…”
Section: Discussionmentioning
confidence: 99%
“…In addition, the false-positive rate of WGS was far lower than that of the traditional NBS 8 . BabySeq and NC NEXUS projects also reported 60.0-88.0% sensitivity and 100% speci city 12,15 . Our results showed similar speci city (99.4%), but the sensitivity was relatively lower (55.6%).…”
Section: Discussionmentioning
confidence: 99%
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“…Elective genomic testing (Lu et al, 2019) as an adjunct or replacement for newborn screening is being studied (Adhikari et al, 2020; Ceyhan‐Birsoy et al, 2019; Roman et al, 2020; Trier et al, 2020). The genetic diseases found at this website represent a useful starting point for programs planning to use genomic testing for newborn screening.…”
Section: Discussionmentioning
confidence: 99%
“…生儿疾病筛查 [18] 。 1.2.3 全基因组测序 即对生物体整个基因组 序列进行测序,是检测基因突变的终极手段。全 基因组测序可以获得个体全部差异和变异信息, 较全外显子组测序覆盖的区域更广,且在鉴定单 碱基突变、插入缺失突变、拷贝数突变和结构突变 中更具优势 [19] 。目前,第二代 STATseq 项目可以 在 26 h内进行初步诊断,且敏感度和特异度均超 过 99.5% [20] 。但全基因组测序面临致病突变体的 鉴定、临床意义不明突变结果的解释、短时间内进 行大量数据储存和分析、相对高成本等诸多挑战, 其在临床的适用性仍须进一步评估。目前,全基 因组测序多用于临床疑似遗传病及现有检测技术 未能明确病因的患者,不适用于新生儿遗传病 筛查 [21] 。…”
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