Somatic mosaicism for copy number variation in differentiated human tissues
Somatic mosaicism for copy number variation in differentiated human tissues
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DOI：
10.1002/humu.20815
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发表时间：
2008-09-01
期刊：
影响因子：
3.9
通讯作者：
Dumanski, Jan P.
中科院分区：
文献类型：
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作者：
Piotrowski, Arkadiusz;Bruder, Carl E. G.;Dumanski, Jan P.
已知两种主要类型的遗传变异：单核苷酸多态性（SNP），以及最近发现的结构变异，涉及DNA酶至兆碱基大小的染色体片段的拷贝数（CNV）变化。目前尚不清楚CNV是否出现在体细胞中，但通常认为正常细胞在遗传上是相同的。我们测试了来自三名受试者的34个组织样本，
Two major types of genetic variation are known: single nucleotide polymorphisms (SNPs), and a more recently discovered structural variation, involving changes in copy number (CNVs) of kilobase- to megabase-sized chromosomal segments. It is unknown whether CNVs arise in somatic cells, but it is, however, generally assumed that normal cells are genetically identical. We tested 34 tissue samples from three subjects and, having analyzed for each tissue