Adding patient info for the non-proband samples
Add new case page > Family tree screen > Add patient information panel > Patient info section
Fill in the boxes:
Sex (33.0+) / Gender (≤32.0) (*) (Male, Female, Unknown)
Relationship to a Proband (Father, Mother, Sibling, Child, Other) - automatically inferred from the pedigree
Date of Birth (mm/dd/yyyy)
Ignore Sample (checkbox). Select this option if you want to exclude the sample from the AI Shortlist analysis and Inheritance filters while preserving genotype data.
Add Proband's phenotypes (checkbox). If a sample has some phenotypes shared with Proband, you can copy them from Proband Phenotypes by simply checking the box. Proband's phenotypes will appear in a newly created Related Phenotypes section. To remove any of the proband's phenotypes not observed in a current individual, click the ☒ button next to the HPO term in the Related Phenotypes section.
Note: A popup notification will appear at the bottom of the page if any input HPO term or HPO ID is unknown.
Unrelated Phenotypes - phenotypes not shared with a Proband. They can be added one by one (Selection mode) or in batch (Batch mode).
a. Selection mode - please follow the steps described below for each phenotype:
Enter an HPO term (e.g., Hypoplasia of the ulna), an HPO ID (e.g., HP:0003022), or a descriptive phenotype name (e.g., Underdeveloped ulna) in the search box;
Select a matching term from a dropdown menu and press Complete after you've added all the terms.
b. Batch mode: paste a list of comma-separated HPO terms or HPO IDs (🆕 32.0+) in the search box and press Complete.
*Note:*The fields marked with (*) are mandatory.
Note: Please omit the Patient ethnicities field for non-proband samples.
Click on Complete once all the information is added.
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