Digital karyotyping
Digital karyotyping
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DOI：
10.1038/nprot.2007.276
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发表时间：
2007-01-01
期刊：
影响因子：
14.8
通讯作者：
Velculescu, Victor E.
中科院分区：
文献类型：
--
作者：
Leary, Rebecca J.;Cummins, Jordan;Velculescu, Victor E.
人类基因组中拷贝数变化的检测对于鉴定自然存在的拷贝数多态性以及包括各种人类疾病（包括癌症）的改变很重要。数字核分型使用源自特定基因组基因座的短序列标签，以在全基因组量表上对拷贝数变化提供定量和高分辨率的视图。使用酶促消化和短DNA序列的分离来获得基因组标签。单个标签链接到ditags，串联，克隆和测序。标签与参考基因组序列相匹配，而相邻标签组的数字枚举则提供了每个染色体沿每个染色体的定量拷贝数信息。数字核分型库可以在大约一周内生成，并且库的测序和数据分析需要另外几周。
Detection of copy number variation in the human genome is important for identifying naturally occurring copy number polymorphisms as well as alterations that underlie various human diseases, including cancer. Digital karyotyping uses short sequence tags derived from specific genomic loci to provide a quantitative and high-resolution view of copy number changes on a genome-wide scale. Genomic tags are obtained using a combination of enzymatic digests and isolation of short DNA sequences. Individual tags are linked into ditags, concatenated, cloned and sequenced. Tags are matched to reference genome sequences and digital enumeration of groups of neighboring tags provides quantitative copy number information along each chromosome. Digital karyotyping libraries can be generated in about a week, and library sequencing and data analysis require several additional weeks.