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How to convert VCF (with possible predicted gene effects) to protein fasta/MSA

How to convert VCF (with possible predicted gene effects) and multiple samples to protein fasta/MSA

Input:

  • VCF (possibly with already gene/protein effects predicted via e.g. SnpEff)
  • GFF3 (for the reference protein sequence and maybe to predict effects)

Output:

  • protein fasta (1 or 2 sequences per sample in the VCF (2 sequences for heterozygous samples))

Is there any tool that can do this? command line or in python/R code?

gff3 fasta protein vcf

1 answer

Use the VEP with the ProteinSeqs plugin.

This only seems to create the protein sequence per variant, not per sample (with possibly multiple variant effects included based on sample genotype(s)).

If you've got phased genotypes then you want Haplosaurus

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