Fig. 3: Detection of structural variants in single tumor cells. | Nature Communications

Fig. 3: Detection of structural variants in single tumor cells.

From: Identification of multiple genomic alterations and prediction of neoantigens from circulating tumor cells at the single-cell level

Fig. 3

a, b Structural variants detected in two or more cells are considered candidate structural variants, while those found in only one cell are treated as low-confidence structural variants and are filtered out. c–q Evaluating the concordance of structural variants identified in the single-cell Uni-C library with those found in bulk cells. For balanced translocations, the regions before and after the breakpoints did not exhibit a change in chromosomal copy number (c–e). In contrast, unbalanced translocations usually lead to a gain or loss in chromosomal copy number around the breakpoints (f–h). Inversions create a pair of symmetrical triangular shapes in the chromatin interaction heatmap without altering the chromosomal copy number (i–k). Duplications manifest as triangular patterns in the chromatin interaction heatmap and correspond with an increased chromosomal copy number (l–n). Lastly, deletions show up as upside-down triangular patterns in the chromatin interaction heatmap and align with a decreased chromosomal copy number (o–q).

Back to article page