Figure 3
Single-chromosome sequencing (SCS) identified the balanced chromosomal translocation of a patient sample by shallow sequencing in an Illumina Miseq. (a) Circos plot of the SCS results of the patient sample. Each ring represents data from one tube, and eight tubes are ranked from the outer layer (tube 1) to inner layer (tube 8). Chromosomes 3 and 5 are shown in blue and red, respectively. (b) One copy of intact chromosome 3 was found in tube 6, whereas two fragments of partial chromosome 3 were found in tubes 3 and 4. One copy of intact chromosome 5 was found in tube 1, whereas two fragments of partial chromosome 5 were found in tubes 3 and 4. The schematic diagram of the balanced translocation of chromosomes 3 and 5 was reconstructed using SCS results. SCS identified the correct translocation, and this was validated by karyotyping results from the same patient; the SCS result indicated that the translocation was at t(3,5)(q24,q13), whereas karyotyping analysis showed that the translocation was at t(3,5)(q25,q13).
