diff --git a/README.md b/README.md index 049de92..4646da4 100644 --- a/README.md +++ b/README.md @@ -1 +1,54 @@ -# get-variant-info \ No newline at end of file +# WDL Workflow for Extracting Variant Information + +[![Open](https://img.shields.io/badge/Open-Dockstore-blue)](https://dockstore.org/workflows/github.com/IMCM-OX/get-variant-info:main?tab=info)   +![GitHub Workflow Status (with event)](https://img.shields.io/github/actions/workflow/status/IMCM-OX/get-variant-info/publish.yml)   +![GitHub release (with filter)](https://img.shields.io/github/v/release/IMCM-OX/get-variant-info)   + +> [!TIP] +> To import the workflow into your Terra workspace, click on the above Dockstore badge, and select 'Terra' from the 'Launch with' widget on the Dockstore workflow page. + + +This repository contains a WDL (Workflow Description Language) workflow for extracting information from a set of imputed VCF files using a list of query variants or sample IDs. + +The workflow extracts the following information: + +- Chromosome +- Position +- Reference allele +- Alternate allele +- Allele frequency (AF) +- Minor allele frequency (MAF) +- Imputation accuracy (R2) +- Empirical R-square (ER2) +- Genotype (GT) +- Estimated Alternate Allele Dosage (DS) +- Estimated Posterior Probabilities for Genotypes 0/0, 0/1 and 1/1 (GP) + +The output is a set of files containing the extracted information. + +## Workflow Inputs + +- `query_variants`: A tab-delimited file with a list of query variants. Each line should be formatted as: Chromosome, Pos, ID, Ref, Alt. (required) +- `query_samples`: A file with a list of sample IDs. Each line should contain one sample ID. (optional) +- `imputed_vcf`: Array of imputed VCF files and their indices. VCF files should be in .vcf.gz format and indices in CSI or TBI format. (required) +- `prefix`: Prefix for the output files. (required) +- `extract_item`: A string specifying the information to extract from the FORMAT field of the VCF file. The available choices are GT, DS, and GP. Please provide as a comma-separated string. (required) + +## Workflow Outputs + +- `snp_info`: File containing SNP information. +- `genotype_info`: Optional file containing genotype information. +- `dosage_info`: Optional file containing estimated alternate allele dosage information. +- `geno_prob_info`: Optional file containing estimated posterior probabilities for genotypes. + + +## Components + +- **Python packages** + - pysam + - pandas + - argparse +- **Tools** + - bcftools +- **Containers** + - ghcr.io/IMCM-OX/get-variant-info