Optical genome mapping identifies rare structural variants in neural tube defects

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Figure 4.
Figure 4.

Optical genome maps showing a balanced 311 kb inversion disrupting intron 2 of the RMND5A gene (detected in cases 18 and 19).

This Article

  1. Published in Advance March 19, 2025, doi: 10.1101/gr.279318.124 Genome Res. 35: 798-809

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