varfish-org / varfish-server

VarFish: comprehensive DNA variant analysis for diagnostics and research
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Index assignment issues in families with n>=4 members #2075

Open Nicolai-vKuegelgen opened 3 hours ago

Nicolai-vKuegelgen commented 3 hours ago

Describe the bug In each case/family one individual is set as the index and in families with n>3 members, this is a potentially non-trivial issue. Specifically for Inheritance Variant filters the correct assignment (shown as 'Trio role') is critical so that filters will work correctly.

In the particular case observed (n=4, 2 parents, 2 children, only one affected) there is a clearly intended index case (only affected family member, Family name == (Index) individual name), however the wrong (first) family member is assigned as Index in Varfish.

To Reproduce Steps to reproduce the behavior:

  1. Have a family with n>=4 members, incl 2 parents and a 2 siblings, only 1 affected
  2. Error likely only happens if the intended index (affected) is not the first of the sample of the family
  3. In the details for Inheritance-Filters the wrong sample is marked as index (in the 'Trio Role' column)

See also screenshot.

Expected behavior Index assignment should either:

Screenshots image

stolpeo commented 2 hours ago

RCA

The wrong index patient was assigned. This happened due to a bug / missing feature in VarFish CLI.

https://github.com/varfish-org/varfish-cli/issues/133

It needs to be evaluated if there is still a problem after assigning the correct index patient.

stolpeo commented 2 hours ago

We should allow changing the index patient in the case overview. We already allow changing the pedigree. However, both actions can falsify existing queries. They should be removed once a change happens.