Vcf Merge

vcf-merge

Quick Start

• Command: vcf-merge [OPTIONS] file1.vcf.gz file2.vcf.gz ... > out.vcf
• Local executable: /home/vimalinx/miniforge3/envs/bio/bin/vcf-merge
• Full reference: See references/help.md

When To Use This Tool

• Merge multiple bgzipped, indexed VCFs into one multi-sample VCF by genomic position.
• Combine per-sample or small-cohort VCFs that describe overlapping loci.
• Control how allele differences are collapsed at the same locus.
• Use vcf-concat instead when files are already split by chromosome or disjoint genomic blocks.

Common Patterns

# 1) Standard merge
vcf-merge sample1.vcf.gz sample2.vcf.gz > merged.vcf

# 2) Stricter merge behavior with no allele collapsing
vcf-merge \
  -c none \
  sample1.vcf.gz sample2.vcf.gz sample3.vcf.gz \
  > merged.vcf

# 3) Restrict the merge to target regions
vcf-merge \
  -r regions.txt \
  sample1.vcf.gz sample2.vcf.gz \
  > merged.regions.vcf

Recommended Workflow

1. Bgzip and tabix-index every input VCF before merging.
2. Choose the -c/--collapse policy deliberately because it changes how same-position allele differences are treated.
3. Write the merged VCF to a new file, then compress and index it if it will be queried later.
4. Check sample columns and duplicate-position handling before trusting the merged callset.

Guardrails

• All inputs must be bgzipped and tabix-indexed.
• This is positional merging, not file concatenation.
• -d removes duplicate consecutive rows by keeping only the first, which can hide data loss if used casually.
• -R fills missing genotypes with a user-supplied reference-style string such as 0/0; be explicit about ploidy assumptions if you use it.