Figure 1

(a) Schematic diagram of single-chromosome sequencing work flow. First, a single metaphase lymphocyte cell that contained homologous chromosomes (one pair of homologous chromosomes is shown in blue and red) was selected by a microinjection system. Second, the cell was carefully transferred to a drop of cell lysis buffer, and the chromosomes were released from the membrane. After a few seconds, the lysis buffer was transferred to a low-binding PCR tube. Third, serial dilution was performed, and the chromosomes were separated into multiple tubes. Fourth, each tube was subjected to whole-genome amplification, next-generation sequencing library construction, index barcoding, and sequencing. (b) An image of a metaphase cell selected with a microinjection system.