nf-core / nf-core/eager

Variation graph mapping

Open
#1,132 3 comments 0 reactions 0 assignees View on GitHub

Nobody has claimed this yet.

enhancement
Dominant language
Nextflow
Stars
215
Forks
91
Avg merge
5m
Merged PRs (30d)
1

Description

Hi,

I was wondering if there were any plans to implement any graph mapping options in the eager pipeline?

I am currently using eager with bwa aln to map fairly divergent non-human genomes but this suffers from reference bias. I know this can be partly mitigated with relaxed mapping parameters or by lowering mapping quality, but I would like to preserve a high mapping quality.

I am planning on using vg with a list of variants (as demonstrated in https://link.springer.com/article/10.1186/s13059-020-02160-7). In the absence of an implementation in eager, I will have to stop my eager pipeline prior to the mapping step and use the output fastq to run an adjacent script with vg, and use the BAM output to carry out the later steps of the eager pipeline.

Eager has been the standard pre-processing method in my lab for years but difficulties in changing pipeline versions has made changing key steps like these challenging to implement. I think adding this to eager would benefit a lot of people, especially those working on non-human organisms who don't always have good (or closely related) reference genomes.

I hope you'll consider this improvement!

Many thanks,
Mattias

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

Start by reviewing the eager mapping step and how it passes FASTQ input to mapping and BAM output to later pipeline stages. Compare the current bwa aln path with the requested vg workflow and determine the integration scope. Done means graph-based mapping can be selected in eager while preserving the downstream analysis steps.

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.