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Autosomal Dominant Transmission Workflow

• A variant is on an autosomal chromosome.
• The variant is heterozygous (0/1) or homozygous (1/1) in an affected subject
• The variant is not present (0/0) in an unaffected subject

Typical Autosomal Dominant Transmission Logic

  1. Unaffected
  2. Affected
  3. Variant

Autosomal Dominant Transmission Workflow

Subject

Include

All variants on autosomal chromosomes

Include

All variants that are heterozygous (0/1) or homozygous (1/1) in the subject

Include [Family Only]

All variants that are heterozygous (0/1) or homozygous (1/1) in affected subjects

Include [Family Only]

All variants that are not present in unaffected subjects

Subtract [Strict Only]

All variants, if two unaffected parents are present

Filtering results: Deleterious variants