Closing the gaps, and improving somatic structural variant analysis and benchmarking using CHM13-T2T

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Figure 4.
Figure 4.

Example of a large somatic deletion detected in the POG1022 sample. (A) Coverage pattern for a 609 kb somatic deletion detected in POG1022 in Chr 20 that affects the PTGIS gene among other genes. (Supplemental Table 15). (B) IGV screenshot that zooms into the breakpoints of the somatic deletion.

This Article

  1. Published in Advance March 17, 2025, doi: 10.1101/gr.279352.124 Genome Res. 35: 621-631

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