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1 7种HLA分型软件比较

Table 1 Comparison of HLA typing software

软件 原理 分辨率 数据类型 是否测试 参考文献 NGSengine 8-digit Amplicon Y - HLAminer 比对/组装 4-digit WGS/WES/RNA-seq/amplicon Y [18] ATHLATES 组装 4-digit WGS/WES/amplicon N [19] HLAFOREST 比对 4-digit RNA-seq N [20] OptiType 比对 4-digit WGS/WES/RNA-seq Y [21] Omixon 比对 6-digit WGS/WES/amplicon Y [22] HLAreporter 比对和组装 4-digit WGS/WES Y [23] HLA-VBSeq 比对 8-digit WGS Y [24] HLAssign 比对 6-digit Sequence capture Y [25] SEQ2HLA 比对 4-digit RNA-seq N [26]