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AnnotateVCF

Add annotations, such as the inferred function and allele frequencies of variants, to final VCF.

Annotations methods include:

  • Functional annotation - annotate SVs with inferred functional consequence on protein-coding regions, regulatory regions such as UTR and promoters, and other non-coding elements.

  • Allele Frequency annotation - annotate SVs with their allele frequencies across all samples, and samples of specific sex, as well as specific sub-populations.

  • Allele Frequency annotation with external callset - annotate SVs with the allele frequencies of their overlapping SVs in another callset, eg. gnomad SV callset.