github.com/talkowski-lab/lr-annotation/AnnotateSVAN

Long-Read Annotation

Tools for callset annotation in long-read cohorts.

Short Tandem Repeats (STRs)

TODO

Insertions

Mobile Element Insertions (MEIs)

TODO

Tandem Duplications

TODO

Dispersed Duplications

TODO

Allele Frequency (AF)

TODO

Functional Consequences

Small Variants (< 50 bp)

TODO

Structural Variants (≥ 50 bp)

TODO


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