Optical genome mapping identifies rare structural variants in neural tube defects

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Figure 3.
Figure 3.

Optical genome maps showing deletions in two cases. (A) Heterozygous deletion in the 3′ UTR of the RBBP4 in a fetus with spina bifida (case 10). (B) Paternally inherited heterozygous deletion of TGIF1 in a fetus with anencephaly (case 11).

This Article

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

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