Inheritance filters

The Inheritance filters identify variants that fit specific Mendelian inheritance patterns based on genotype patterns and clinical presentation across the family. They are especially useful in trio and larger family analyses.

You can filter for the following inheritance patterns:

• Autosomal Recessive - Homozygotes: Autosomal variants that are homozygous (Hom) in the proband and affected relatives (if any), and heterozygous (Het), reference (Ref), or not covered (No Cov) in unaffected family members.

• Autosomal Recessive - Compound Heterozygotes: Two or more autosomal heterozygous variants in the same gene inherited from different parents. Haplotype variants and de novo variants are excluded.

• X-Linked Recessive: Chr X variants in a male proband where the proband is Het, Hom, or Hemi, the unaffected mother is Het, Ref, or No Cov, and the unaffected father is Ref or No Cov.

• X-Linked Dominant: Chr X variants where the proband is Het, Hom, or Hemi, the affected mother is Het, and the unaffected father is Ref or No Cov.

• De Novo Dominant: Variants where the proband is Het, and both unaffected parents are Ref.

• Autosomal Dominant: Autosomal variants where the proband and affected family members are Het, and unaffected relatives are Ref.

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• Display No Coverage slider: Include or exclude variants where any sample lacks sequencing coverage.

Default values

When filters are reset to default, the Inheritance filters are not applied.