Progress in the detection of human genome structural variations
文献类型：期刊论文
| 作者 | Wu XueMei1,3; Xiao HuaSheng1,2 |
| 刊名 | Science in china series c-life sciences
 |
| 出版日期 | 2009-06-01 |
| 卷号 | 52期号:6页码:560-567 |
| 关键词 | Structural variation Cytogenetic Microarray Pcr Paired end mapping (pem) Next-generation sequencing |
| ISSN号 | 1006-9305 |
| DOI | 10.1007/s11427-009-0078-4 |
| 通讯作者 | Xiao huasheng(huasheng_xiao@shbiochip.com) |
| 英文摘要 | 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. |
| WOS关键词 | COPY-NUMBER VARIATION ; HUMAN GENETIC-VARIATION ; OLIGONUCLEOTIDE MICROARRAY ANALYSIS ; AMPLIFIABLE PROBE HYBRIDIZATION ; HUMAN-DISEASE ; DNA ; ARRAY ; MAP ; RESOLUTION ; DUPLICATIONS |
| WOS研究方向 | Life Sciences & Biomedicine - Other Topics |
| WOS类目 | Biology |
| 语种 | 英语 |
| WOS记录号 | WOS:000267396600009 |
| 出版者 | SCIENCE PRESS |
| URI标识 | http://www.irgrid.ac.cn/handle/1471x/2398974 |
| 专题 | 中国科学院大学 |
| 通讯作者 | Xiao HuaSheng |
| 作者单位 | 1.Chinese Acad Sci, Shanghai Inst Biol Sci, Key Lab Syst Biol, Ctr Funct Genom, Shanghai 200031, Peoples R China 2.Natl Engn Ctr Biochip Shanghai, Shanghai 201203, Peoples R China 3.Chinese Acad Sci, Grad Sch, Shanghai 200031, Peoples R China |
| 推荐引用方式 GB/T 7714 | Wu XueMei,Xiao HuaSheng. Progress in the detection of human genome structural variations[J]. Science in china series c-life sciences,2009,52(6):560-567. |
| APA | Wu XueMei,&Xiao HuaSheng.(2009).Progress in the detection of human genome structural variations.Science in china series c-life sciences,52(6),560-567. |
| MLA | Wu XueMei,et al."Progress in the detection of human genome structural variations".Science in china series c-life sciences 52.6(2009):560-567. |
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来源：中国科学院大学
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