Abstract：
Molecular analysis of blood groups is important in transfusion medicine, allowing the prediction of red blood cell (RBC) antigens. Many blood banks use single nucleotide variant (SNV) based methods for blood group analysis. While this is a well-established approach, it is limited to the polymorphisms included in genotyping panels. Thus, variants that alter antigenic expression may be ignored, resulting in incorrect prediction of phenotypes. The popularization of next-generation sequencing (NGS) has led to its application in transfusion medicine, including for RBC antigens determination. The present review/meta-analysis aimed to evaluate the applicability of the NGS for the prediction of RBC antigens. A systematic review was conducted following a comprehensive literature search in accordance with the Preferred Reporting Items for Systematic Review and Meta-Analysis guidelines. Studies were selected based on predefined criteria and evaluated using Strengthening the Reporting of Observational studies in Epidemiology guidelines. The characteristics and results of the studies were extracted and meta-analysis was performed to verify the agreement between results from standard molecular methods and NGS. Kell (rs8176058), Duffy (rs2814778, rs12078), or Kidd (rs1085396) alleles were selected as a model for comparisons. Additionally, results are presented for other blood group systems. Of the 864 eligible studies identified, 10 met the inclusion criteria and were selected for meta-analysis. The pooled concordance proportion for NGS compared to other methods ranged from 0.982 to 0.994. The sequencing depth coverage was identified as crucial parameters for the reliability of the results. Some studies reported difficulty in analyzing more complex systems, such as Rh and MNS, requiring the adoption of specific strategies. NGS is a technology capable of predicting blood group phenotypes and has many strengths such as the possibility of simultaneously analyzing hundred individuals and gene regions, and the ability to provide comprehensive genetic analysis, which is useful in the description of new alleles and a better understanding of the genetic basis of blood groups. The implementation of NGS in the routine of blood banks depends on several factors such as cost reduction, the availability of widely validated panels, the establishment of clear quality parameters and access to bioinformatics analysis tools that are easy to access and operate.
摘要：
血型的分子分析在输血医学中很重要，允许预测红细胞（RBC）抗原。许多血库使用基于单核苷酸变体(SNV)的方法进行血型分析。虽然这是一个成熟的方法，它仅限于基因分型组中包括的多态性。因此，可以忽略改变抗原表达的变体，导致表型预测不正确。下一代测序技术(NGS)的普及导致其在输血医学中的应用,包括RBC抗原测定。本综述/荟萃分析旨在评估NGS预测RBC抗原的适用性。根据系统评价和荟萃分析指南的首选报告项目，在进行全面的文献检索后进行了系统评价。根据预定义的标准选择研究，并使用流行病学指南中加强观察性研究的报告进行评估。提取研究的特征和结果，并进行荟萃分析以验证标准分子方法和NGS的结果之间的一致性。凯尔(rs8176058),Duffy(rs2814778,rs12078),选择或Kidd(rs1085396)等位基因作为比较模型。此外,其他血型系统的结果。在确定的864项符合条件的研究中，10人符合纳入标准，并被选入荟萃分析。与其他方法相比，NGS的合并一致性比例为0.982至0.994。测序深度覆盖率被确定为结果可靠性的关键参数。一些研究报告难以分析更复杂的系统，如Rh和MNS，需要采取具体的策略。NGS是一种能够预测血型表型的技术，具有许多优势，例如可以同时分析数百个个体和基因区域，以及提供全面遗传分析的能力，这有助于描述新的等位基因和更好地理解血型的遗传基础。在血库常规中实施NGS取决于几个因素，例如降低成本，广泛验证的面板的可用性，建立清晰的质量参数，并获得易于访问和操作的生物信息学分析工具。
