Genome-wide detection of single-nucleotide and copy-number variations of a single human cell.

@article{Zong2012GenomewideDO,
  title={Genome-wide detection of single-nucleotide and copy-number variations of a single human cell.},
  author={Chenghang Zong and Sijia Lu and Alec R. Chapman and Xiaoliang Sunney Xie},
  journal={Science},
  year={2012},
  volume={338 6114},
  pages={1622-6}
}
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… CONTINUE READING
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