摘要
全基因组重测序(whole genome resequencing,WGRS)是对已知参考基因组序列的物种进行不同个体间的全基因组水平的测序,具有检测变异类型丰富、高性价比、应用广泛等优点。随着测序成本的降低和畜禽基因组测序工作的完成,全基因组重测序技术已成为畜禽遗传变异研究的重要工具。全基因组重测序技术可获得大量基因变异信息,包括单核苷酸多态性(single nucleotide polymorphism,SNP)、插入缺失(insertion/deletion,InDel)、结构变异(structural variation,SV)和拷贝数变异(copy number variation,CNV)等,丰富了现有的基因组序列,形成的大量数据集为探索畜禽表型性状和遗传改良提供了一个基因组信息库,以促进对畜禽遗传资源的深入研究与利用。作者概述了全基因组重测序技术及其关键影响因素(测序深度、序列比对和变异检测),重点综述了该技术在重要畜禽(牛、羊、猪、鸡)研究领域的应用进展,并对将来侧重于整合分析重测序数据、精准表型记录和多组学信息的研究趋势进行了展望。
Whole genome resequencing(WGRS)is the whole genome level sequencing between different individuals of species with known reference genome sequences,which has the advantages of abundant detection variant types,high cost performance and wide application.With the reduction of sequencing cost and the completion of animal genome sequencing,WGRS technology has become an important tool for the research of genetic variation in animals.The large amount of genetic variation information obtained through WGRS,including single nucleotide polymorphism(SNP),insertion/deletion(InDel),structural variation(SV)and copy number variation(CNV),etc.,enriches the existing genome sequence.The resulting large-scale dataset of WGRS provides a genomic information base for exploring phenotypic traits and genetic improvement in animals,and promotes the in-depth study and utilization of the genetic resources.In this article,the condition of WGRS technology and its key influencing factors(sequencing depth,sequence comparison and variant detection)were summarized,the application progress on this technology in the research field of important farm animals(cattle,sheep,pigs and chickens)was reviewed,and the future research trend focusing on integrated analysis of resequencing data,accurate phenotypic records and multi-omics information was prospected.
作者
叶雯
孙东晓
韩博
YE Wen;SUN Dongxiao;HAN Bo(State Key Laboratory of Animal Biotech Breeding,National Engineering Laboratory for Animal Breeding,Key Laboratory of Animal Genetics,Breeding and Reproduction of Ministry of Agriculture and Rural Affairs,College of Animal Science and Technology,China Agricultural University,Beijing 100193,China)
出处
《中国畜牧兽医》
CAS
CSCD
北大核心
2023年第10期4125-4132,共8页
China Animal Husbandry & Veterinary Medicine
基金
国家重点研发计划(2021YFF1000700、2021YFD1200900)
河北省牛产业技术研究院建设项目(215790557H)
内蒙古自治区科技计划项目(2021GG0102)
石家庄市科技计划项目(221500182A)
国家现代农业产业技术体系(CARS-36)。
关键词
全基因组重测序
畜禽
遗传多样性
选择与进化
功能基因
whole genome resequencing
farm animals
genetic diversity
selection and evolution
functional gene
