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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.

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。

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