Inheritance Filters

The Inheritance Filters allow filtering variants using an assumed inheritance mode that is consistent with the segregation of genotypes and phenotypes in the family.

The Inheritance Filters are primarily relevant for cases with sequencing data for a trio pedigree and less relevant for singletons. For large and complex pedigrees, consider using Zygosity filters that are more flexible.

You can filter for:

• Autosomal Recessive - Homozygotes. Autosomal variants that are Hom in the Proband and other affected family members (if any) and Het, Ref, or No Cov in the unaffected members.

• Autosomal Recessive - Compound Heterozygotes. Two or more autosomal Het variants in the same gene inherited from different parents.

• X-Linked Recessive. X-chromosome variants in a male Proband (i.e. Hemi) that are Het in his unaffected mother.

• X-Linked Dominant. X-chromosome variants that are Het in affected females in the pedigree.

• De Novo Dominant. Autosomal and X-chromosome variants that are Het in the Proband and Ref in parents.

• Autosomal Dominant. Autosomal variants that are Het in the Proband and other affected family members but Ref in healthy relatives. ​

With the Display No Coverage slider, you can control whether to include or exclude variants that are No Cov in Proband or any other sequenced sample in that pedigree.