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Apply Variants Filters/Family-Based Filtering Workflows/X-Linked Dominant Transmission Workflow

X-Linked Dominant Transmission Workflow

A variant is on the X chromosome
The variant is heterozygous (0/1) in an affected female subject
The variant is hemizygous (1) in an affected male subject
The variant is not present (0/0 or 0) in an unaffected subject

Typical X-Linked Dominant Transmission Logic

  1. Unaffected
  2. Affected
  3. Variant

X-Linked Dominant Transmission Workflow

Proband

Include

All variants on X

Include

All heterozygous (0/1) variants in a female subject or all hemizygous (1) variants in a male subject

Include [Family Only]

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

Include [Family Only]

All variants that are not present in unaffected subjects

Subtract [Strict Only]

All variants, if a female subject has two unaffected parents or a male subject has an unaffected mother

Filtering results: Deleterious variants