三代测序与靶向捕获技术联用进行高分辨HLA基因分型及MHC区域单倍体型精细鉴定

陈佳,舒明月,里进,付爱思,杨帆,王邹,李一荣,邓子新,刘天罡

The third-generation sequencing combined with targeted capture technology for high-resolution HLA typing and MHC region haplotype identification

Chen Jia,Shu Mingyue,Li Jin,Fu Aisi,Yang Fan,Wang Zou,Li Yirong,Deng Zixin,Liu Tiangang

表2 HCC27样本基于二代测序数据的7种软件分型结果比较

Table 2 Comparison of seven typing software results of HCC27 based on the next-generation sequencing data

分型结果 软件名称 NGSengine HLAminer HLAssign HLA-reporter Omixon HLA-VBseq Opti Type HLA-A A*02:01:01:01 A*02:01P A*02:01:01 A*02:01:01G A*02:01:01 A*02:01:01:01 A*02:01 A*31:01:02:01 A*31:01P A*31:01:02 A*31:01:02G A*31:01:02 A*31:01:02 A*31:01 HLA-B B*40:01:02 B*40:01:02:04 B*40:01:02 B*40:01:01G B*40:01:02 B*40:01:02 B*40:01 B*46:01:01 B*46:01P B*46:01:01 B*46:01:01G B*46:01:01 B*46:01:01 B*46:01 HLA-C C*01:02:01 C*01:02P C*01:02:01 C*01:02:01G C*01:02:01 C*01:02:01 C*01:02 C*07:02:01:01 C*15:102 C*07:02:01 C*07:02:01G C*07:02:01 C*07:02:01:01 C*07:02 DPA1 DPA1*02:02:02 DPA1*02:01P - - DPA1*02:02:02 - - DPA1*04:01 DPA1*01:03P - - DPA1*04:01 - - DPB1 DPB1*05:01:01 DPB1*40:01 DPB1*05:01:01 DPB1*05:01:01G DPB1*135:01 - - DPB1*13:01:01 DPB1*19:01P DPB1*13:01:01 DPB1*13:01:01G DPB1*519:01 - - DQA1 DQA1*01:03:01:04 DQA1*01:02P DQA1*01:03:01 DQA1*01:03:01G DQA1*01:03:01 DQA1*01:03:01:01 - DQA1*03:02 DQA1*02:01P DQA1*03:02 DQA1*03:01:01G DQA1*03:02 DQA1*03:02 - DQB1 DQB1*03:03:02:02 DQB1*03:05P - DQB1*03:03:02G DQB1*03:03:02 DQB1*03:03:02:03 - DQB1*06:01:01 DQB1*04:32 - DQB1*06:01:01G DQB1*06:01:15 DQB1*06:01:01 - DRB1 DRB1*08:03:02 DRB1*07:01P - DRB1*08:03:02 DRB1*08:03:02 DRB1*08:03:02 - DRB1*09:01:02 DRB1*13:02P - DRB1*09:01:02 DRB1*09:01:02 DRB1*09:21 - DRB4 DRB4*01:03:01:01 DRB4*01:01P DRB4*01:03:01 - DRB4*01:03:01N - - - - - - DRB4*01:10 - -