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added optional parameter info
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README.md

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@@ -12,7 +12,7 @@ A Nextflow DSL2 pipeline to perform allele-specific expression analysis from RNA
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## Features
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- Genotype-aware RNA-seq alignment with **STAR + WASP correction**.
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- Allele-specific read counting (REF/ALT) from RNA-seq BAMs.
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- Optional allele-specific read counting (REF/ALT) from RNA-seq BAMs, performed only if a regions VCF is provided and exists.
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- Reports total depth and variant allele fraction.
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## Requirements
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└── gencode.v38.annotation.gtf
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```
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### 4. Define SNPs of interest (VCF)
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### 4. Define SNPs of interest (VCF) (optional)
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The pipeline expects a VCF so REF and ALT alleles are explicit.
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If you want to perform allele-specific counting, provide a VCF file with the SNPs of interest. If this file is not provided or does not exist, the allele counting step will be skipped.
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`query_sites.vcf`
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- Uses per-sample phased variants via `--varVCFfile`.
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- Output: `sampleID.Aligned.sortedByCoord.out.bam` (coordinate sorted BAM file with WASP tags)
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- Allele-specific read counting (ALLELE_COUNT)
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- Allele-specific read counting (ALLELE_COUNT) (optional)
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- This step is only executed if a regions VCF is provided as input.
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- Uses bcftools mpileup restricted to SNPs of interest.
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- Reports:
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- Total depth (DP)

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