从档案新生儿干血斑多组学分析:局限性和机遇

Yuan-Jessica Zhuang, Yeukai T. M. Mangwiro, M. Wake, R. Saffery, R. Greaves
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引用次数: 5

摘要

新生儿筛查(NBS)项目在许多国家开展,每年处理数百万个干血斑(DBS)样本。除了早期识别各种不良健康结果外,这些样本具有相当大的潜力,可以作为基于人群的研究资源,解决与儿童健康有关的关键问题。档案DBS样本用于新兴靶向和非靶向多组学分析的可行性尚未在文献中进行探讨。本综述旨在批判性地评估最新进展,以确定在研究环境中将组学分析应用于NBS卡的机遇和挑战。检索了Medline、Embase和PubMed数据库,以确定利用DBS进行基因组、蛋白质组学和代谢组学分析的研究。在删除重复记录后,共确定了800条记录,其中23条记录被纳入本次审查。这些论文包括1篇基因组/代谢组学联合研究、4篇基因组学研究、3篇表观基因组学研究、4篇蛋白质组学研究和11篇代谢组学研究。他们共同证明,多组学分析技术的灵敏度日益提高,使得NBS样本的广泛使用可以用于大型队列研究。通过在低于- 20°C的温度下储存来保持DBS样品的分析前完整性,将使这一重要资源在研究能力中得到充分实现。
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Multi-omics analysis from archival neonatal dried blood spots: limitations and opportunities
Abstract Newborn screening (NBS) programs operate in many countries, processing millions of dried bloodspot (DBS) samples annually. In addition to early identification of various adverse health outcomes, these samples have considerable potential as a resource for population-based research that could address key questions related to child health. The feasibility of archival DBS samples for emerging targeted and untargeted multi-omics analysis has not been previously explored in the literature. This review aims to critically evaluate the latest advances to identify opportunities and challenges of applying omics analyses to NBS cards in a research setting. Medline, Embase and PubMed databases were searched to identify studies utilizing DBS for genomic, proteomic and metabolomic assays. A total of 800 records were identified after removing duplicates, of which 23 records were included in this review. These papers consisted of one combined genomic/metabolomic, four genomic, three epigenomic, four proteomic and 11 metabolomic studies. Together they demonstrate that the increasing sensitivity of multi-omic analytical techniques makes the broad use of NBS samples achievable for large cohort studies. Maintaining the pre-analytical integrity of the DBS sample through storage at temperatures below −20 °C will enable this important resource to be fully realized in a research capacity.
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