github.com/talkowski-lab/gnomad-lr/AnnotateSVAnnotate

Automatic Tools and Workflows
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gnomAD Long-Read

Methods and tools for callset analysis, QC and post-processing for the processing of gnomAD Long-Read data.

Allele Frequency Annotations

We used the AnnotateVcf workflow from GATK-SV, albeit using a modified version from the kj_gnomad_lr branch - details regarding this modification can be seen in the following section.

Functional Annotations

For SNVs, TODO.

For structural variants, we annotated them using a modified version of the AnnotateVcf workflow from the

This is a companion discussion topic for the original entry at github.com/talkowski-lab/gnomad-lr/AnnotateSVAnnotate