De Novo Mutation Workflow
| • | The variant is heterozygous (0/1) or hemizygous (1) in the proband |
| • | The variant is not present (0/0) in family members |
| • | Only one child in the family is affected |
Typical De Novo Mutation Logic
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Unaffected -
Affected -
Mutation
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De Novo Mutation Workflow |
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Subject |
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All variants that are heterozygous (0/1) or hemizygous (1) the subject |
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Variants not present in any other subjects |
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All variants, if other affected subjects are present |
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Filtering results: Deleterious variants |
Include