Single-Cell Copy Number Analysis Using the Illumina Genome Analyzer.

CNV, SNP, and mutation analyses of singles cells are important to characterize cancer, stem, and embryo cells. We used PicoPlex Whole Genome Amplification kits to sequence single human cancer cells, single-copy mouse chromosomes, and single bacterial cells using the Illumina Genome Analyzer. PicoPlex is a 1-tube, 3-hr, 4-step method to convert a single cell into cluster-station ready DNA. High quality sequences with very little background were obtained (0.7% mismatch rates, 90+% mapped reads, <20% ADO, and good paired-end data were typical). Amplification or deletion of regions smaller than 100kb and reproducible SNP and chromosomal breakpoint results were reproducibly determined from single cells sequenced in single lanes. The reproducibility of PicoPlex enables many research and diagnostic applications using single cells.