HLAreporter: a tool for HLA typing from next generation sequencing data.

HLAreporter: a tool for HLA typing from next generation sequencing data.
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DOI:
10.1186/s13073-015-0145-3
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发表时间:
2015
期刊:
影响因子:
12.3
通讯作者:
Yang W
Yang W
中科院分区:
生物学1区
文献类型:
--
作者:
Huang Y;Yang J;Ying D;Zhang Y;Shotelersuk V;Hirankarn N;Sham PC;Lau YL;Yang W

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人类白细胞抗原(HLA)分型的下一代测序(NGS)数据具有广泛的应用潜力。在这里,我们介绍了一种新的工具(HLA报告)的HLA分型从NGS数据的基础上读取映射使用一个全面的参考面板包含所有已知的HLA等位基因,然后从头组装的基因特异性短读段。在公开的NGS数据上进行测试时,实现了高数字分辨率的准确HLA分型,优于其他新开发的工具,如HLAminer和PHLAT。HLAreporter可从http://paed.hku.hk/genome/下载。本文的在线版本(doi:10.1186/s13073-015-0145-3)包含补充材料,可供授权用户使用。
Human leukocyte antigen (HLA) typing from next generation sequencing (NGS) data has the potential for widespread applications. Here we introduce a novel tool (HLAreporter) for HLA typing from NGS data based on read-mapping using a comprehensive reference panel containing all known HLA alleles, followed by de novo assembly of the gene-specific short reads. Accurate HLA typing at high-digit resolution was achieved when it was tested on publicly available NGS data, outperforming other newly developed tools such as HLAminer and PHLAT. HLAreporter can be downloaded from http://paed.hku.hk/genome/. The online version of this article (doi:10.1186/s13073-015-0145-3) contains supplementary material, which is available to authorized users.
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