OMKar automates genome karyotyping using optical maps to identify constitutional abnormalities

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Figure 3.
Figure 3.

OMKar reconstructions in two postnatal samples: 2280 (panels A–C) and 2281 (panels D–F). The karyograms (panels A, D) and the ISCN-formatted description (panels B, E; slightly altered for exposition) were automatically generated by OMKar. The karyograms displayed show the “segment view” for easier referencing. Panels C and F describe the SV interpretation process after path decomposition, with black brackets indicating concordant blocks, red indicating deletion blocks, and blue indicating insertion blocks.

This Article

  1. Published in Advance November 14, 2025, doi: 10.1101/gr.280536.125 Genome Res. 35: 2671-2681

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