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https://github.com/wickdchromosome/variant_level_gene_annotation

Quick script that adds a gene column to variant level phaser output based on a gencode annotation file
https://github.com/wickdchromosome/variant_level_gene_annotation

Last synced: 26 days ago
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Quick script that adds a gene column to variant level phaser output based on a gencode annotation file

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# Phaser variant level gene annotation

This is just a quick script that adds gene annotation using the hg38 gencode gene annotation file included in this repo(from https://www.gencodegenes.org/human/). A few notes:

- Variants overlapping more than one annotation will have multiple lines in the output file
- the missing value notation when there's no annotation is "."
- This script was tested with the current hg38 annotation file from gencode(included in this repo).

Bedtools is a dependency for this script, which can be downloaded from: https://bedtools.readthedocs.io/en/latest/content/installation.html#downloading-a-pre-compiled-binary

### Example usage

```
bash annotate.sh chr1.allelic_counts.txt GENCODE_gencode.v26.GRCh38.genes.bed out.txt
```