galaxyproject / galaxyproject/tools-iuc

Suggestions: Galaxy Ensembl VEP tool

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Dominant language
HTML
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Forks
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Avg merge
23h 54m
Merged PRs (30d)
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Description

I'm just posting this in the hopes that IUC would consider updating the wrapper for Ensembl's VEP tool for annotating variants. VEP is challenging to install itself, even with a Docker image, and would be nice to include in a Galaxy workflow. Some of the functionalities that could be included are:

  • HGVS annotations against Hg19 and Hg38
  • Option to either use a cached reference genome or annotation files for offline annotation, or connect with ensembl's servers.
  • Ability to generate and customize a PDF or HTML report

Thanks!

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Research direction

The issue names no repository files, tests, or entry points. Start by checking the project's current Ensembl VEP wrapper and installation requirements, then assess the requested HGVS Hg19/Hg38 annotation, offline or server-backed operation, and PDF/HTML reporting. Done requires an agreed scope and a defined Galaxy wrapper implementation.

Written by the indexing model from the issue text.

Assessment

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

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