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Apply Variants Filters/Family-Based Filtering Workflows

Family-Based Filtering Workflows

The mode of inheritance, which is the inheritance pattern of a genetic trait or disorder as passed down through generations, is typically one of the following:

Autosomal dominant
Autosomal recessive
De novo mutation
X-linked recessive
X-linked dominant

Disease-causing variants coexist with the disorder according to the mode of inheritance. Family-based filtering requires the proband only, but can include both parents and up to five siblings. When a case includes related analyses and strict filtering is enabled, the filtering workflow includes extra steps to refine filtering results based on family data.

Because the proband contains thousands of variants that appear deleterious, filtering is necessary to remove variants unlikely to cause disease and identify possible disease-causing variants.