Skip to main content
. 2024 Dec 16;25(24):13471. doi: 10.3390/ijms252413471

Figure 4.

Figure 4

Chromosome 16 analysis of CNVs and ROHs using WES data. (A) Arrows indicate a homozygous deletion of approximately 317 kb (chr16: 21,561,888−21,878,568), detected in both siblings using Excavator2 software, which includes the OTOA gene. (B) B-allele frequency (BAF) analysis using H3M2 revealed that both siblings share an approximately 17 Mb ROH on chromosome 16p13.3-p12.1, encompassing both the deletion involving OTOA and the missense variant in ERCC4.