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
- Unaffected
- Affected
- 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 |