SACGF / SACGF/variantgrid

Further improvements to SV Annotation

Open
#1,040 4 comments 0 reactions 0 assignees View on GitHub
Dominant language
Python
Stars
30
Forks
3
Avg merge
9h 22m
Merged PRs (30d)
40

Description

Now that we have the basics and have our head around SV annotation, maybe we can look at some other things, and compare them with what we have:

[Integration of transcriptomics and long-read
genomics prioritizes structural variants in rare
disease](https://www.medrxiv.org/content/10.1101/2024.03.22.24304565v1.full.pdf) - Medrxiv 2024

CADD-SV

* https://genome.cshlp.org/content/early/2022/02/23/gr.275995.121
* https://github.com/kircherlab/CADD-SV

SVAFotate

* [Annotation of structural variants with reported allele frequencies and related metrics from multiple datasets using SVAFotate](https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-022-05008-y)
* https://github.com/fakedrtom/SVAFotate

---

🤖 Written by Claude — AnnotSV has been moved out into its own issue: #1533. This issue remains the umbrella comparison ticket for the other SV annotation tools (CADD-SV, SVAFotate, ClassifyCNV, DeepSVP, etc.).

Contributor guide

No contributing guide indexed for this repository

Research direction

Start by reviewing the current SV annotation behavior and the linked CADD-SV, SVAFotate, and transcriptomics/long-read genomics resources; AnnotSV is tracked separately in issue #1533. The issue does not name files, tests, or a specific change, so the first step is to establish which tools and comparisons belong in scope and what completion means.

Written by the indexing model from the issue text.

Assessment

Domain
bioinformatics
Issue type
Feature
Difficulty
5/5
Estimated time
Over a week
Activity status
Quiet
Clarity
Needs clarification
Newbie friendliness
25/100

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