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纳米 HLA:一种基于纳米孔测序数据的无需纠错的人类白细胞抗原 I 类基因分型方法。

NanoHLA: A Method for Human Leukocyte Antigen Class I Genes Typing Without Error Correction Based on Nanopore Sequencing Data.

机构信息

Department of Bioinformatics, Qitan Technology (Beijing) Co., Ltd, Beijing, China.

出版信息

Methods Mol Biol. 2024;2809:115-126. doi: 10.1007/978-1-0716-3874-3_8.

DOI:10.1007/978-1-0716-3874-3_8
PMID:38907894
Abstract

Human leukocyte antigen (HLA) typing is of great importance in clinical applications such as organ transplantation, blood transfusion, disease diagnosis and treatment, and forensic analysis. In recent years, nanopore sequencing technology has emerged as a rapid and cost-effective option for HLA typing. However, due to the principles and data characteristics of nanopore sequencing, there was a scarcity of robust and generalizable bioinformatics tools for its downstream analysis, posing a significant challenge in deciphering the thousands of HLA alleles present in the human population. To address this challenge, we developed NanoHLA as a tool for high-resolution typing of HLA class I genes without error correction based on nanopore sequencing. The method integrated the concepts of HLA type coverage analysis and the data conversion techniques employed in Nano2NGS, which was characterized by applying nanopore sequencing data to NGS-liked data analysis pipelines. In validation with public nanopore sequencing datasets, NanoHLA showed an overall concordance rate of 84.34% for HLA-A, HLA-B, and HLA-C, and demonstrated superior performance in comparison to existing tools such as HLA-LA. NanoHLA provides tools and solutions for use in HLA typing related fields, and look forward to further expanding the application of nanopore sequencing technology in both research and clinical settings. The code is available at https://github.com/langjidong/NanoHLA .

摘要

人类白细胞抗原 (HLA) 分型在器官移植、输血、疾病诊断和治疗以及法医分析等临床应用中非常重要。近年来,纳米孔测序技术作为一种快速且具有成本效益的 HLA 分型选择方法已经出现。然而,由于纳米孔测序的原理和数据特点,其下游分析缺乏稳健和通用的生物信息学工具,这给解析人类群体中存在的数千个 HLA 等位基因带来了重大挑战。为了解决这一挑战,我们开发了 NanoHLA,这是一种无需纠错的基于纳米孔测序的 HLA Ⅰ类基因高分辨率分型工具。该方法集成了 HLA 类型覆盖分析的概念和 Nano2NGS 中使用的数据转换技术,其特点是将纳米孔测序数据应用于类似 NGS 的数据分析管道中。在使用公共纳米孔测序数据集进行验证时,NanoHLA 对 HLA-A、HLA-B 和 HLA-C 的总体一致性率为 84.34%,与 HLA-LA 等现有工具相比表现出更好的性能。NanoHLA 为 HLA 分型相关领域提供了工具和解决方案,并期待进一步扩大纳米孔测序技术在研究和临床环境中的应用。该代码可在 https://github.com/langjidong/NanoHLA 上获得。

相似文献

1
NanoHLA: A Method for Human Leukocyte Antigen Class I Genes Typing Without Error Correction Based on Nanopore Sequencing Data.纳米 HLA:一种基于纳米孔测序数据的无需纠错的人类白细胞抗原 I 类基因分型方法。
Methods Mol Biol. 2024;2809:115-126. doi: 10.1007/978-1-0716-3874-3_8.
2
Long-Read Nanopore Sequencing Validated for Human Leukocyte Antigen Class I Typing in Routine Diagnostics.长读纳米孔测序在常规诊断中对人类白细胞抗原 I 类分型的验证。
J Mol Diagn. 2020 Jul;22(7):912-919. doi: 10.1016/j.jmoldx.2020.04.001. Epub 2020 Apr 14.
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本文引用的文献

1
The IPD-IMGT/HLA Database.免疫球蛋白和 T 细胞受体基因数据库(IMGT)/人类白细胞抗原数据库(HLA)。
Nucleic Acids Res. 2023 Jan 6;51(D1):D1053-D1060. doi: 10.1093/nar/gkac1011.
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Nano2NGS-Muta: a framework for converting nanopore sequencing data to NGS-liked sequencing data for hotspot mutation detection.Nano2NGS-Muta:一个将纳米孔测序数据转换为类二代测序(NGS)数据以进行热点突变检测的框架。
NAR Genom Bioinform. 2022 Apr 21;4(2):lqac033. doi: 10.1093/nargab/lqac033. eCollection 2022 Jun.
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Nanopore sequencing technology, bioinformatics and applications.
纳米孔测序技术、生物信息学及其应用。
Nat Biotechnol. 2021 Nov;39(11):1348-1365. doi: 10.1038/s41587-021-01108-x. Epub 2021 Nov 8.
4
High-resolution HLA typing by long reads from the R10.3 Oxford nanopore flow cells.使用 R10.3 Oxford nanopore 流控细胞的长读长进行高分辨率 HLA 分型。
Hum Immunol. 2021 Apr;82(4):288-295. doi: 10.1016/j.humimm.2021.02.005. Epub 2021 Feb 19.
5
Utilizing nanopore sequencing technology for the rapid and comprehensive characterization of eleven HLA loci; addressing the need for deceased donor expedited HLA typing.利用纳米孔测序技术快速全面地分析 11 个 HLA 基因座;满足对已故供者进行加急 HLA 分型的需求。
Hum Immunol. 2020 Aug;81(8):413-422. doi: 10.1016/j.humimm.2020.06.004. Epub 2020 Jun 25.
6
Rapid, highly accurate and cost-effective open-source simultaneous complete HLA typing and phasing of class I and II alleles using nanopore sequencing.使用纳米孔测序技术实现快速、高度准确且经济高效的开源同时完成I类和II类等位基因的完整HLA分型和定相。
HLA. 2020 Aug;96(2):163-178. doi: 10.1111/tan.13926.
7
Long-Read Nanopore Sequencing Validated for Human Leukocyte Antigen Class I Typing in Routine Diagnostics.长读纳米孔测序在常规诊断中对人类白细胞抗原 I 类分型的验证。
J Mol Diagn. 2020 Jul;22(7):912-919. doi: 10.1016/j.jmoldx.2020.04.001. Epub 2020 Apr 14.
8
Rapid high-resolution HLA genotyping by MinION Oxford nanopore sequencing for deceased donor organ allocation.通过MinION牛津纳米孔测序进行快速高分辨率HLA基因分型用于 deceased 供体器官分配
HLA. 2020 Aug;96(2):141-162. doi: 10.1111/tan.13901. Epub 2020 Apr 26.
9
Rapid High-Resolution Typing of Class I HLA Genes by Nanopore Sequencing.利用纳米孔测序技术快速高分辨率分型 I 类 HLA 基因。
Methods Mol Biol. 2020;2120:93-99. doi: 10.1007/978-1-0716-0327-7_6.
10
HLA Typing from RNA Sequencing and Applications to Cancer.从 RNA 测序进行 HLA 分型及在癌症中的应用。
Methods Mol Biol. 2020;2120:71-92. doi: 10.1007/978-1-0716-0327-7_5.