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

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Figure 5.
Figure 5.

Example of a somatic SV in the POG849 sample. A 540 bp somatic deletion in cancer sample POG846 (compared to the control POG846Co) located in Chr 1 that affects two exons of the TCEA3 gene, which has been linked to gastric, lung, ovarian and colorectal cancer, among others.

This Article

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

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