Tumor/normal/relapse calling with priors

    This scenario configures Varlociraptor to perform tumor/normal/relapse 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:
      tumor:
        sex: male
        somatic-effective-mutation-rate: 1e-6
        inheritance:
          clonal:
            from: normal
            somatic: false
        contamination:
          by: normal
          fraction: 0.15
      relapse:
        sex: male
        somatic-effective-mutation-rate: 1e-6
        inheritance:
          subclonal:
            from: tumor
        contamination:
          by: normal
          fraction: 0.1
      normal:
        somatic-effective-mutation-rate: 1e-10
        sex: male
    
    events:
      somatic_tumor: "normal:0.0 & tumor:]0.0,1.0]"
      somatic_relapse: "normal:0.0 & tumor:0.0 & relapse:]0.0,1.0]"
      germline: "normal:0.5 | normal:1.0"
      somatic_normal: "normal:]0.0,0.5["
    
    

    Prior probabilities

    sample: relapse, chromosome: 1