Optical genome mapping identifies rare structural variants in neural tube defects

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Figure 5.
Figure 5.

Optical genome maps show duplication in two cases. (A) de novo 5′-UTR region duplication of HNRNPC in a fetus with anencephaly (case 20). (B) A heterozygous duplication of HNRNPC in a fetus with spina bifida (OEIS; case 21).

This Article

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

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