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.