Single sample germline calling with priors

    This scenario configures Varlociraptor to perform a single sample calling with known heterozygosity, the probably most simple case in variant calling. Note that you should configure the prior heterozygosity expectation with your own expetise or via literature research. The values shown here are only examples and can differ depending e.g. on the species or the population.

    species:
      heterozygosity: 0.001
      ploidy:
        male:
          all: 2
          X: 1
          Y: 1
        female:
          all: 2
          X: 2
          Y: 0
    
    samples:
      hamlet:
        sex: male
    
    events:
      het: "hamlet:0.5"
      hom: "hamlet:1.0"
    

    Prior probabilities

    sample: hamlet, chromosome: 1