Optical genome mapping identifies rare structural variants in neural tube defects

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Figure 2.
Figure 2.

Optical genome maps show deletions in two cases. (A) Partial heterozygous deletion of the AMER1 gene in a female fetus with osteopathia striata with cranial sclerosis (OS-CS) including anencephaly and cervical rachischisis (case 8). (B) Heterozygous deletion of the FOXD4 gene in a fetus with spina bifida (case 9).

This Article

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

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