Comprehensive Profiling of Computational Techniques for Sequencing-Based HLA Immune Signatures Extraction

IF 4.1 4区 医学 Q2 CELL BIOLOGY HLA Pub Date : 2025-02-16 DOI:10.1111/tan.70049
Limin Jiang, Steven F. Baker, Michele Ceccarelil, Yan Guo
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Abstract

HLA typing is crucial for clinical and research applications, including transplantation, disease association studies and personalised medicine. This study provides an in-depth analysis of five key challenges in computational HLA typing methods: varying lengths, high polymorphism, complex phylogenetic structures, high sequence similarity and the requirement for frequent updates. This study evaluates 27 computation-based HLA typing tools developed over the past 12 years, using a novel sequencing dataset of A549 cell lines with matched short-read RNA-Seq and long-read Iso-Seq data. We comprehensively investigated these 27 tools in terms of accessibility, capability, reliability, reproducibility, scalability and performance. In addition, we discuss the advantages and disadvantages of current tools and identify critical areas for future research and development to advance HLA typing technologies.

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基于序列的HLA免疫特征提取计算技术的综合分析
HLA分型对临床和研究应用至关重要,包括移植、疾病关联研究和个性化医疗。本研究深入分析了计算HLA分型方法面临的五个关键挑战:长度变化、多态性高、系统发育结构复杂、序列相似性高以及需要频繁更新。本研究评估了过去12年来开发的27种基于计算的HLA分型工具,使用了具有匹配短读RNA-Seq和长读Iso-Seq数据的A549细胞系的新测序数据集。我们从可访问性、功能、可靠性、再现性、可伸缩性和性能等方面全面研究了这27个工具。此外,我们讨论了当前工具的优点和缺点,并确定了未来研究和发展的关键领域,以推进HLA分型技术。
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来源期刊
HLA
HLA Immunology and Microbiology-Immunology
CiteScore
3.00
自引率
28.80%
发文量
368
期刊介绍: HLA, the journal, publishes articles on various aspects of immunogenetics. These include the immunogenetics of cell surface antigens, the ontogeny and phylogeny of the immune system, the immunogenetics of cell interactions, the functional aspects of cell surface molecules and their natural ligands, and the role of tissue antigens in immune reactions. Additionally, the journal covers experimental and clinical transplantation, the relationships between normal tissue antigens and tumor-associated antigens, the genetic control of immune response and disease susceptibility, and the biochemistry and molecular biology of alloantigens and leukocyte differentiation. Manuscripts on molecules expressed on lymphoid cells, myeloid cells, platelets, and non-lineage-restricted antigens are welcomed. Lastly, the journal focuses on the immunogenetics of histocompatibility antigens in both humans and experimental animals, including their tissue distribution, regulation, and expression in normal and malignant cells, as well as the use of antigens as markers for disease.
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