fill-aa
Quick Start
- Command:
fill-aa [OPTIONS] < in.vcf > out.vcf - Local executable:
/home/vimalinx/miniforge3/envs/bio/bin/fill-aa - Full reference: See references/help.md for complete options and examples.
When To Use This Tool
- Add
AAancestral-allele annotations to a VCF INFO column. - Fill ancestral bases from 1000 Genomes-style ancestral FASTA files for SNPs, indels, or reference sites.
- Prepare variant datasets for analyses that need ancestral-state-aware annotations.
Common Patterns
# 1) Annotate a sorted VCF with ancestral alleles
fill-aa -a human_ancestor_ < sorted.vcf > aa.vcf
# 2) Restrict filling to selected event types
fill-aa -a human_ancestor_ -t snp,indel < sorted.vcf > aa_subset.vcf
Recommended Workflow
- Prepare ancestral allele FASTA files: decompress, rename sequence headers to match chromosome names, compress with gzip (not bgzip), and index with
samtools faidx. - Ensure input VCF is sorted using
vcf-sortto avoid severe performance degradation. - Run
fill-aa -a <ancestral_prefix> [-t <types>] < in.vcf > out.vcf. - Verify output VCF contains AA annotations in the INFO column.
Guardrails
- Input VCF must be sorted; unsorted files cause serious performance issues.
- Ancestral allele FASTA must be gzip-compressed and indexed with
samtools faidx. - Sequence headers in ancestral files must use simple chromosome names (e.g.,
1orchr1). --helpworks, but--versionis not implemented and errors as an unknown parameter.- If the exact
-apath does not exist, the script falls back to<prefix><chrom>.fa.gz, so record your naming convention carefully.