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mutation_effect

Mutation impact

This panel only appears when a VCF file has been selected. In this case, we need to specify some further parameters:

  • Reference genome: Select either reference genome GRCh37 or GRCh38
  • Inheritance pattern: Select the kind of inheritance pattern, either recessive or dominant.
  • Compound hetero: Select if heterozygote compounds must be considered.
  • SIFT, PolyPhen, PhastCons: Select which tools must be used in order to infer the impact of the mutations in the expression profile. At least one of them must be selected.
mutation_effect.txt · Last modified: 2020/04/03 20:18 (external edit)