Multiple segregation types should be more visible
Background
Today the segregation types are sorted and the topmost type is shown as an indicator in the sidebar. All types are shown in the tooltip. This works mostly fine, as normally you only have one type, but occasionally you can have variants that are:
-
BothThis cannot happen, since logic forDe novo
andCompound heterozygous
. For that case, it will be shown asD
. The variant is anyhow marked as being one of two or more variants in the same gene (shaded background in sidebar).Compound heterozygous
requires inheritance from a parent. -
When looking into data from Dragen, it gives out more sensitive counts on reads having the variant in the parents. This triggers the
Inherited mosaicism
type a lot, and since it's currently sorted on top, the "real" segregation type that is called is somewhat hidden. It can, however, be useful to show both rather than just the other (e.g.De novo
), since it says a lot about the quality of calling (for instance, if a variant is called asDe novo
, but it's also consideredInherited mosaicism
, one can question the reality of the variant beingDe novo
). Inherited mosaicism could be made more strict to not collide as much with other cases, but it's also useful information to have.
As an aside, it can also be a bit confusing whether the term Inherited mosaicism
refers to mosaicism in the proband or in one of the parents.
Implementation
To improve on this we can do the following:
- Rename
Inherited mosaicism
toParental mosaicism
to make it more clear that it's related to mosaicism in parent, rather than the proband. - Show both segregation types in the indicator as shown below
-
Parental mosaicism
should be made last in the sort order.