See variants in GC rich regions

In a patient-derived model of uveal melanoma, no pathogenic variant or epigenetic event was found explaining the loss of expression of gene 1 using NGS, which is typically associated with this cancer. OGM identified a 740 bp deletion in the promoter of gene 1. This region was missed by sequencing due to the high GC content of that region.

Gentien D, Saberi-Ansari E, Servant N, et al. Multi-omics comparison of malignant and normal uveal melanocytes reveals novel molecular features of uveal melanoma. bioRxiv 2022.03.11.483767; doi: