LOVD+ should be able to detect uniparental disomy (UPD) for imported trios by looking at the variants' inheritance. This can be a separate analysis or a standard filter in existing analyses. Problem is that we wouldn't let certain variants pass and filter others out, but we should generate a warning when this filter is positive. How this will work is not yet clear. Perhaps run the analysis before any others, within the Screening.
LOVD+ should be able to detect uniparental disomy (UPD) for imported trios by looking at the variants' inheritance. This can be a separate analysis or a standard filter in existing analyses. Problem is that we wouldn't let certain variants pass and filter others out, but we should generate a warning when this filter is positive. How this will work is not yet clear. Perhaps run the analysis before any others, within the Screening.