Family relations
Performing a family analysis in Moon starts with defining family relations between the relevant samples. Moon is very flexible in terms of family configurations. Any number of healthy and/or affected family members can be added to the analysis. In addition, a wide variety of family relations can be selected.
Family information should only be added on the Patient info screen of the index patient, and can be entered as follows:
Click Add Family Member.
Enter the sample names of family members to include, or simply select the right sample from the list.
Indicate whether the family member is similarly affected or healthy.
Select the family relation between the added family member and the index sample.
A family relations check is automatically conducted by Moon during analysis based on the family member’s genetic data overlap. The family relations check result can be found in the Shortlist tab after the analysis is run.
To perform a family analysis, separate VCF files need to be uploaded for each of the samples. Multiplex VCF files are not supported and can be the cause of incorrect results (false positives, false negatives).
Confirmation of parentage is needed for interpretation of results of family analyses. Misattributed parentage can impact the results.
Only samples called against the same genome build can be selected for a family analysis.