生物通报道:在11月24日新鲜出炉的《Nature》,以及新出版的《Nature Genetics》和《Genome Research》杂志上,有4篇文章聚焦到了一个近期生物学领域的重大成果上:拷贝数变
异(Copy number variation,CNV)图谱。各大媒体杂志也纷纷从各个角度报道了这一研究成果。
R. Khaja et al. "Genome assembly comparison identifies structural variants in the human genome," Nature Genetics, published online ahead of print Nov. 22, 2006.
[Abstract]
D. Komura et al. "Genome-wide detection of human copy number variations using high density DNA oligonucleotide arrays," Genome Research, published online ahead of print Nov. 22, 2006.
[Abstract]
H. Fiegler et al. "Accurate and reliable high-throughput detection of copy number variation in the human genome."Genome Research, published online ahead of print Nov. 22, 2006.
[Abstract]
人类基因组遗传变异有许多种形式,从大型的,显微镜可见的染色体到单核苷酸突变都包括在内。近期多方研究发现在所有人类和其它哺乳动物中,有许多DNA片段大小kb到Mb范围内亚微观(submicroscopic)的拷贝数突变,这些拷贝数删除,插入,复制和复合多位点的变异统称为拷贝数变异(copy number variations,CNVs)或者拷贝数多态性(copy number polymorphisms,CNPs)。
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