nf-core / nf-core/variantbenchmarking
support for trio analysis for mendelian inheritance errors
Open
Nobody has claimed this yet.
backlog
enhancement
- Dominant language
- Nextflow
- Stars
- 51
- Forks
- 31
- Avg merge
- 1d 22h
- Merged PRs (30d)
- 1
Description
Description of feature
support for trio analysis for mendelian inheritance errors
calculation of mendelian inconsistency
bcftools +mendelian
plink
Contributor guide
First steps
- Read the whole issue, then the project's contributing guide.
- Comment on the issue to say you are picking it up — it saves two people doing the same work.
- Fork the repository and make your change on a branch.
- Open a pull request that references the issue number.
Research direction
Start by reviewing the existing variant benchmarking pipeline, then investigate the mentioned bcftools +mendelian and plink tools for trio analysis. Done means the pipeline supports trio analysis and calculates Mendelian inconsistency errors, but the issue does not name files or tests to guide implementation.
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