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Brice Letcher edited this page Apr 28, 2020 · 2 revisions

This command annotates a PRG built by gramtools build with coverage information, genotypes the PRG and infers a personalised reference genome.

The personalised reference is a single (haploid) path through the PRG representing the closest mosaic to your sample in the graph.

It can then be used as a substrate for variant discovery.

Usage

gramtools genotype -i ./gram -o ./run --reads ./reads
parameter description
-i build command output directory
-o output dir: see output
--reads input read samples fastq/sam/bam file(s)
--sample_id id to use for sample, goes in output files

Options

  • --max-threads: number of threads to use
  • --seed: fixing the seed will produce the same outputs consistently

Outputs

Genotyping files

Under directory ./run/genotype:

  • genotyped.vcf.gz
  • genotyped.json: a JSON file counterpart to VCF which can describe nested variants
  • personalised_reference.fasta

Coverage files

Under directory ./run/coverage, coverage files describing the result of mapping the reads to the prg.

They are described here.

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