靶向测序基因型检测（GBTS）技术及其应用

徐云碧,杨泉女,郑洪建,许彦芬,桑志勤,郭子锋,彭海,张丛,蓝昊发,王蕴波,吴坤生,陶家军,张嘉楠

Genotyping by Target Sequencing (GBTS) and Its Applications

XU Yunbi,YANG QuanNü,ZHENG HongJian,XU YanFen,SANG ZhiQin,GUO ZiFeng,PENG Hai,ZHANG Cong,LAN HaoFa,WANG YunBo,WU KunSheng,TAO JiaJun,ZHANG JiaNan

表1 靶向测序基因型检测（GBTS）技术的平台与比较优势

Table 1 Platforms and advantages of genotyping by target sequencing (GBTS)

优势 Advantages 具体特征 Description of advantages 展望 Prospects 平台 Platform 广适性 Wide suitability 适合所有二代和三代测序系统,包括Illumina、Ion Torrent和MGI Applicable to the second and third generations of sequencing facilities, including Illumina, Ion Torrent and MGI 与下一代测序或其他检测设备兼容 Also applicable to the next generation of sequencing and other genotyping facilities 标记 Markers 灵活性 Flexibility 适合各种标记类型（SNP、短SSR、长/短InDel、已知融合基因、甲基化位点）;不同的标记密度;一款多用 Suitable for various marker types (SNPs, short SSRs, long/short InDels, known fusion genes and methylated loci), densities and applications 广泛利用单倍型、LD区段和其他标记衍生物 Wide applications with haplotypes, LD blocks and other marker-derivatives 检测 Genotyping 高效性 High efficiency 样本多重化、多重PCR;开发和升级简便;设计、测试和检测成本低 Sample- and PCR-multiplexing, readily development and upgrade of marker panels, and low cost in design, test and genotyping 随检测技术进步推动检测的自动化、智能化、超高通量 More robotic, intelligent, and high-throughput with advanced genotyping facilities 信息 Information 可加性 Accumulativity 数据重复率高,缺失数据少;不同时间、地点、项目间的数据可比和累加;整合度高 High duplication rate; less missing; accumulative across times, locations and projects; integrative 可加性程度随技术进步而增强 Increasingly accumulative with technical advancement 支撑 Support systems 便捷性 Less demanding 不依赖检测技术或专业化的生物信息团队;通用而简化的实验室信息管理系统;通用的信息整合、处理、分析流程 Independent of professional genotyping and informatics supports, manageable through regular LIMS and data integration, treatment and analytical protocols 随技术进步而更加便捷、快速、智能化 Less demanding, much quicker but more intelligent, with technical development 应用 Applications 广谱性 Wide application 广泛应用于动物、植物、微生物及其互作群体的进化、遗传、育种、知识产权保护等领域 Wide application in the fields of evolution, genetics, breeding and variety right protection in animals, plants and microorganisms 随着海量信息的累计,将拓展在群体生物学、生态学等领域的应用 Applications extended to population biology and ecology as huge data accumulated