Further improvements to SV Annotation
- 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
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🤖 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