Progress in the detection of human genome structural variations  

作　　者：WU XueMei1,3 & XIAO HuaSheng1,2 1 Center of Functional Genomics,Key Laboratory of System Biology,Shanghai Institutes for Biological Sciences,Chinese Academy of Sciences,Shanghai 200031,China 2 National Engineering Center for Biochip at Shanghai,Shanghai 201203,China 3 Graduate School of the Chinese Academy of Sciences,Shanghai 200031,China 

出　　处：《Science China(Life Sciences)》2009年第6期560-567,共8页中国科学（生命科学英文版）

基　　金：Supported by the National High Technology Research and Development Program of China (Grant No. 2006AA020704)

摘　　要：The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome.These variants include copy number variations(CNVs),inversions,insertions,deletions and other complex rearrangements of DNA sequences.This paper briefly reviews the commonly used technologies to discover both genomic structural variants and their potential influences.Particularly,we highlight the array-based,PCR-based and sequencing-based assays,including array-based comparative genomic hybridization(aCGH),representational oligonucleotide microarray analysis(ROMA),multiplex amplifiable probe hybridization(MAPH),multiplex ligation-dependent probe amplification(MLPA),paired-end mapping(PEM),and next-generation DNA sequencing technologies.Furthermore,we discuss the limitations and challenges of current assays and give advices on how to make the database of genomic variations more reliable.The emerging of high-throughput and high-resolution genomic technologies led to the detection of submicroscopic variants ranging from 1 kb to 3 Mb in the human genome.These variants include copy number variations(CNVs),inversions,insertions,deletions and other complex rearrangements of DNA sequences.This paper briefly reviews the commonly used technologies to discover both genomic structural variants and their potential influences.Particularly,we highlight the array-based,PCR-based and sequencing-based assays,including array-based comparative genomic hybridization(aCGH),representational oligonucleotide microarray analysis(ROMA),multiplex amplifiable probe hybridization(MAPH),multiplex ligation-dependent probe amplification(MLPA),paired-end mapping(PEM),and next-generation DNA sequencing technologies.Furthermore,we discuss the limitations and challenges of current assays and give advices on how to make the database of genomic variations more reliable.

关 键 词：structural variation CYTOGENETIC MICROARRAY PCR paired end mapping(PEM) next-generation SEQUENCING 

分 类 号：Q987[生物学—遗传学]