Fig. 5

CDS disrupting SVs

(A) Three different categories of CDS disrupting SVs. CDS disrupting deletions and insertions can lead to loss-of-function variants. If affecting an entire gene, duplications are equivalent to obtaining an extra copy of a gene (copy gain). However, partial duplication of a gene may have different consequences depending on the context. Figure adapted from [22]. (B) A 16-kb mCNV was found in the Keratin gene-rich region, harbouring more than 20 keratin genes, in the chr5:27 Mb region (marked with green). This mCNV affects two keratin genes, KRT6B and KRT6C. (C) The QC plot of the 16-Kb implied that diploid CNs range between 2 and 6, yet reads-based genotype indicated inaccurate genotyping. (D) WGS data of one of the mCNV carriers was inspected (diploid CN 5). Increased sequencing coverage supports the presence of multiple copies of the 16-kb segment. (E) The Tandem arrangement of the 16-kb segment can give rise to a novel fusion gene made of part of KRT6B and KRT6C (marked with an asterisk; shown in blue and red). In this panel, we depicted a putative tandem arrangement of the haploid CN3 allele