Trio pedigree calling with priors

    This scenario configures Varlociraptor to perform a simple trio pedigree calling. The model is configured with prior assumptions about mutation rate and heterozygosity. Note that you should configure these with your own expetise or via literature research. The values shown here are only examples.

    species:
      heterozygosity: 0.001
      germline-mutation-rate: 1e-3
      ploidy:
        male:
          all: 2
          X: 1
          Y: 1
        female:
          all: 2
          X: 2
          Y: 0
    
    samples:
      mother:
        sex: female
      father:
        sex: male
      child:
        sex: male
        inheritance:
          mendelian:
            from:
              - mother
              - father
    
    events:
      denovo_child: "(child:0.5 | child:1.0) & mother:0.0 & father:0.0"
      inherited: "!mother:0.0 | !father:0.0"
    
    

    Prior probabilities

    sample: child, chromosome: 1