Progress in the detection of human genome structural variations |
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Authors: | XueMei Wu HuaSheng Xiao |
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Institution: | (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 |
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Abstract: | 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.
Supported by the National High Technology Research and Development Program of China (Grant No. 2006AA020704). |
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Keywords: | structural variation cytogenetic microarray PCR paired end mapping (PEM) next-generation sequencing |
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