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Fig. 4 | Genome Medicine

Fig. 4

From: SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

Fig. 4

Inversion affecting BRPF1. Screenshot of the graphic generated by SvAnna for inv(chr3)(9725702; 9737931), a 12.23 kb inversion that disrupts the coding sequence of the CPNE9 and BRPF1 genes observed in patient with intellectual disability with dysmorphic features [36]. The graphic displays the relative location of the inversion (red box) with respect to individual transcripts of the affected genes. The transcripts are drawn as boxes (exons) and lines (introns) where green represents the coding regions, and yellow the non-coding regions. In addition, the graphic presents nearby repeat sequence loci to help with discovering variant calling artifacts, as well as interpretation of deleterious SVs that are often flanked with repeat regions

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