griffithlab / griffithlab/pVACtools
Update reference proteome analysis to consider patient genotype
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- Dominant language
- Python
- Stars
- 188
- Forks
- 81
- Avg merge
- 9d 17h
- Merged PRs (30d)
- 6
Description
Currently we compare peptide sequences against a reference proteome from Ensembl.
It would be more correct to create a proteome that incorporated SNPs that impact protein sequence and then look for matches between our peptide sequence and THAT personalized proteome reference.
We could take our germline VCF, use it to update a reference genome fasta with het/hom SNPs, extract CDS sequences based on all annotated protein coding transcripts from Ensembl and then build the peptide reference for comparison from that.
Contributor guide
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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 tracing how the current Ensembl reference proteome is built and used for peptide matching. Then investigate how the germline VCF, reference genome FASTA, and annotated protein-coding transcripts could produce a genotype-specific proteome. Done means peptide comparisons use that personalized reference while handling heterozygous and homozygous protein-impacting SNPs.
Written by the indexing model from the issue text.
Assessment
- Tech stack
- python
- Domain
- bioinformatics
- Issue type
- Feature
- Difficulty
- 5/5
- Estimated time
- Over a week
- Activity status
- Stale
- Clarity
- Mostly clear
- Newbie friendliness
- 30/100