What it does

Sansa annotate is a structural variant (SV) annotation tool.

Input

• Sample (VCF)
• Gene annotation (GTF/GFF2/GFF3)
• Annotation database, e.g. gnomAD-SV or 1000 Genomes phase 3

Output

• Anno (BCF) with annotation SVs augmented by a unique ID (INFO/ANNOID)
• Query (TABULAR.GZ) with query SVs matched to annotation IDs

References

More information are available on GitHub.