nf-core / nf-core/rnavar

SIFT missense predictions for genomes

Open
#20 0 comments 0 reactions 0 assignees View on GitHub

Nobody has claimed this yet.

enhancement
Dominant language
Nextflow
Stars
61
Forks
47
Avg merge
1d 1h
Merged PRs (30d)
1

Description

Description of feature

Dear nf-core/rnavar authors,

It would be an amazing feature to include sorting intolerant from tolerant algorithm in the pipeline and rank which one of the variants has the potential to be studied further in details.

Kindly find the nature protocols below:

https://doi.org/10.1038/nprot.2009.86
https://doi.org/10.1038/nprot.2015.123

Contributor guide

Open the contributing guide

First steps

  1. Read the whole issue, then the project's contributing guide.
  2. Comment on the issue to say you are picking it up — it saves two people doing the same work.
  3. Fork the repository and make your change on a branch.
  4. Open a pull request that references the issue number.

Research direction

Review the nf-core/rnavar pipeline structure and the two linked SIFT protocol papers first. Determine how variant annotations and ranking are currently represented. Done means the pipeline includes SIFT missense predictions and ranks variants for further study, with the relevant workflow validation completed.

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
Stale
Clarity
Needs clarification
Newbie friendliness
25/100

Get new issues in your inbox

A short digest of beginner-friendly GitHub issues.