• All Files
Home/
Apply Variants Filters/Apply Filters/Zygosity and Family Based Filters

Related articles

Zygosity and Family-Based Filters

Use the Zygosity and Family-Based filters to filter for variants that are consistent with a specified inheritance mode. For more information, see Family-Based Filtering Workflows.

The Family Based filters require a germline analysis case with a specified sex and affected subject.

Filter

Description

Zygosity

Filters data by the genotype:

• Heterozygous—Filtering of variants that have different alleles.
• Homzygous—Filtering of variants that have identical alleles.
• Hemizygous—Filtering of variants that have only one allele.

Family Analysis

Filters data by the mode of inheritance:

• Autosomal Dominant—Filtering of variants that are heterozygous in affected subjects and not present in unaffected subjects.
• Autosomal Recessive—Filtering of variants that are either homozygous or compound heterozygous (two or more heterozygous variants in one gene) in affected subjects and not homozygous or compound heterozygous in unaffected subjects.
• De Novo—Filtering of variants not present in relatives.
• X-linked Recessive—Filtering of variants that are homozygous in affected female subjects or hemizygous in affected male subjects, and not homozygous or hemizygous in unaffected subjects.
• X-linked Dominant—Filtering of variants that are heterozygous in affected female subjects or hemizygous in affected male subjects, and not present in unaffected subjects.

Use strict filter (disallow Mendelian errors)

Filters data to show variants with parental support for inheritance. Because strict filtering applies only to cases in which inheritance is expected, it is not applicable to de novo cases.