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SOAPTyping:一个用于 HLA I 类和 II 类等位基因基于序列分型的开源跨平台工具。

SOAPTyping: an open-source and cross-platform tool for sequence-based typing for HLA class I and II alleles.

机构信息

BGI-Shenzhen, Shenzhen, 518083, China.

Department of Biology, University of Copenhagen, Copenhagen, Denmark.

出版信息

BMC Bioinformatics. 2020 Jul 8;21(1):295. doi: 10.1186/s12859-020-03624-0.

Abstract

BACKGROUND

The human leukocyte antigen (HLA) gene family plays a key role in the immune response and thus is crucial in many biomedical and clinical settings. Utilizing Sanger sequencing, the golden standard technology for HLA typing enables accurate identification of HLA alleles in high-resolution. However, only the commercial software, such as uTYPE, SBT-Assign, and SBTEngine, and very few open-source tools could be applied to perform HLA typing based on Sanger sequencing.

RESULTS

We developed a user-friendly, cross-platform and open-source desktop application, known as SOAPTyping, for Sanger-based typing in HLA class I and II alleles. SOAPTyping can produce accurate results with a comprehensible protocol and featured functions. Moreover, SOAPTyping supports a more advanced group-specific sequencing primers (GSSP) module to solve the ambiguous typing results. We used SOAPTyping to analyze 36 samples with known HLA typing from the University of California Los Angeles (UCLA) International HLA DNA Exchange platform and 100 anonymous clinical samples, and the HLA typing results from SOAPTyping are identical to the golden results and 5.5 times faster than commercial software uTYPE, which shows the usability of SOAPTyping.

CONCLUSIONS

We introduce the SOAPTyping as the first open-source and cross-platform HLA typing software with the capability of producing high-resolution HLA typing predictions from Sanger sequence data.

摘要

背景

人类白细胞抗原(HLA)基因家族在免疫反应中起着关键作用,因此在许多生物医学和临床环境中至关重要。利用 Sanger 测序,HLA 分型的金标准技术能够以高分辨率准确识别 HLA 等位基因。然而,只有商业软件,如 uTYPE、SBT-Assign 和 SBTEngine,以及极少数开源工具可用于基于 Sanger 测序进行 HLA 分型。

结果

我们开发了一种用户友好、跨平台和开源的桌面应用程序,称为 SOAPTyping,用于 HLA Ⅰ类和Ⅱ类等位基因的基于 Sanger 的分型。SOAPTyping 可以生成准确的结果,具有易于理解的协议和特色功能。此外,SOAPTyping 支持更先进的组特异性测序引物(GSSP)模块,以解决模棱两可的分型结果。我们使用 SOAPTyping 分析了来自加利福尼亚大学洛杉矶分校(UCLA)国际 HLA DNA 交换平台的 36 个具有已知 HLA 分型的样本和 100 个匿名临床样本,SOAPTyping 的 HLA 分型结果与金标准结果相同,比商业软件 uTYPE 快 5.5 倍,这表明了 SOAPTyping 的可用性。

结论

我们介绍了 SOAPTyping,它是第一个具有从 Sanger 序列数据生成高分辨率 HLA 分型预测能力的开源和跨平台 HLA 分型软件。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cb0e/7646500/469512fcc007/12859_2020_3624_Fig1_HTML.jpg

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