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genomic-medicine-sweden / nallo

An analysis pipeline for long-reads from both PacBio and Oxford Nanopore Technologies (ONT), written in Nextflow.
https://genomic-medicine-sweden.github.io/nallo/
MIT License
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Investigate SV annotation programs #105

Open jemten opened 6 months ago

jemten commented 6 months ago

Description of feature

It's been a while since we looked into whats available in the field of SV annotations

Please extend

fellen31 commented 2 months ago

Would adding CADD-SV be of interest?

Callers

Annotation

Frequency databases

dnil commented 2 months ago

Looks nice! It didn't make a big noise when it was released, but lets read the publication in GR and evaluate!

jemten commented 2 months ago

Definitely worth investigating 😄

dnil commented 2 months ago

Looking at figure 3, AnnotSV seems really interesting, with both annotation and a score which is arguably at least on par with CADD-SV? 😊