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Index assignment issues in families with n>=4 members #2075

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Nicolai-vKuegelgen opened this issue Nov 1, 2024 · 4 comments
Closed

Index assignment issues in families with n>=4 members #2075

Nicolai-vKuegelgen opened this issue Nov 1, 2024 · 4 comments
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@Nicolai-vKuegelgen
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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:

  • take at least Affected status, and optionally Family-Individual-Names into account (on top of Sample relationships)
  • or be user editable (i.e. manually assigning the index to role to a specific sample, this would also allow solve ambiguous cases with two affected siblings)

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image

@Nicolai-vKuegelgen Nicolai-vKuegelgen added the bug Something isn't working label Nov 1, 2024
@stolpeo
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stolpeo commented Nov 1, 2024

RCA

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

varfish-org/varfish-cli#133

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

@stolpeo
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stolpeo commented Nov 1, 2024

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.

@holtgrewe
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@Nicolai-vKuegelgen ensure that the index patient comes before the other sibling, should work then

@stolpeo
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stolpeo commented Nov 6, 2024

Follow up #2076, closing this ticket

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