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

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Figure 2.
Figure 2.

Differences between the benchmarks based on the used reference. (A) IGV screenshot of an SV located in Chr7 that was reported with different sizes in CHM13-T2T and GRCh38. (B) IGV screenshot of an SV located in Chr17 cataloged as FP according to the benchmark by Valle-Inclan et al., which we are able to detect in all four cancer samples.

This Article

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

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