Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell
2012
Zong, Chenghang | Lü, Sijia | Chapman, Alec R. | Xie, X Sunney
Single-Cell Sequencing With the rapid progress in sequencing technologies, single-cell sequencing is now possible, promising insight into how cell-to-cell heterogeneity affects biological behavior. Achieving adequate genome coverage remains a challenge because single-cell sequencing relies on genome amplification that is prone to sequence bias. Zong et al. (p. 1622) report a new amplification method: multiple annealing and looping-based amplification cycles that allowed 93% genome coverage for a human cell. This coverage facilitated accurate detection of point mutations and copy number variations. Lu et al. (p. 1627) used the method to sequence 99 sperm cells from a single individual. Mapping the meiotic crossovers revealed a nonrandom distribution with a reduced recombination rate near transcription start sites.
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