HLAreporter：一种用于从下一代测序数据中进行HLA分型的工具。

Huang Yazhi, Yang Jing, Ying Dingge, Zhang Yan, Shotelersuk Vorasuk, Hirankarn Nattiya, Sham Pak Chung, Lau Yu Lung, Yang Wanling

Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Hong Kong, Hong Kong.

Department of Pediatrics, King Chulalongkorn Memorial Hospital, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Genome Med. 2015 Mar 16;7(1):25. doi: 10.1186/s13073-015-0145-3. eCollection 2015.

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/.

从下一代测序（NGS）数据中进行人类白细胞抗原（HLA）分型具有广泛的应用潜力。在此，我们介绍一种基于读段比对的新型工具（HLAreporter），用于从NGS数据中进行HLA分型。该工具使用包含所有已知HLA等位基因的综合参考文库，随后对基因特异性短读段进行从头组装。当在公开可用的NGS数据上进行测试时，HLAreporter实现了高分辨率的准确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。