生物
拷贝数变化
基因组
人类基因组
遗传学
单核苷酸多态性
DNA纳米球测序
假阳性悖论
癌症基因组测序
多重位移放大
计算生物学
单细胞测序
基因
基因组学
基因复制
DNA
DNA测序
参考基因组
突变
外显子组测序
聚合酶链反应
基因组文库
基因型
基序列
计算机科学
DNA提取
机器学习
作者
Chenghang Zong,Sijia Lü,Alec R. Chapman,Xiaohui Xie
出处
期刊:Science
[American Association for the Advancement of Science (AAAS)]
日期:2012-12-21
卷期号:338 (6114): 1622-1626
被引量:951
标识
DOI:10.1126/science.1229164
摘要
Kindred cells can have different genomes because of dynamic changes in DNA. Single-cell sequencing is needed to characterize these genomic differences but has been hindered by whole-genome amplification bias, resulting in low genome coverage. Here, we report on a new amplification method-multiple annealing and looping-based amplification cycles (MALBAC)-that offers high uniformity across the genome. Sequencing MALBAC-amplified DNA achieves 93% genome coverage ≥1x for a single human cell at 25x mean sequencing depth. We detected digitized copy-number variations (CNVs) of a single cancer cell. By sequencing three kindred cells, we were able to identify individual single-nucleotide variations (SNVs), with no false positives detected. We directly measured the genome-wide mutation rate of a cancer cell line and found that purine-pyrimidine exchanges occurred unusually frequently among the newly acquired SNVs.
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