Genome-Wide Detection of Single-Nucleotide and Copy-Number Variations of a Single Human Cell

Abstract

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.