eastgenomics / eastgenomics/eggd_nirvana

Update Nirvana

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bug enhancement
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Description

This version (2.0.3) of Nirvana is outdated, and contains known bugs including incorrect HGVS annotation of variants downstream of differences between the reference genome and the transcript sequence.

Need to update to current version.

Contributor guide

No contributing guide indexed for this repository

Research direction

Start by locating where Nirvana 2.0.3 is pinned or invoked in this repository. Confirm the current Nirvana version and determine how the existing wrapper or workflow is tested; done means the repository uses the current version and the known annotation issue is addressed.

Written by the indexing model from the issue text.

Assessment

Tech stack
shell
Domain
bioinformatics
Issue type
Feature
Difficulty
3/5
Estimated time
1-2 days
Activity status
Stale
Clarity
Needs clarification
Newbie friendliness
30/100

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