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fix: solve NULLs found in variantEffect struct of the variant index #1003

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merged 4 commits into from
Feb 26, 2025

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vivienho
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@vivienho vivienho commented Feb 25, 2025

✨ Context

In the variant index, NULLs were found in the variantEffect struct.

-RECORD 0--------------------------------------------------------------------------------------------------------------------------------------
 variantId     | 11_51584799_A_C                                                                                                               
 variantEffect | [{VEP, intergenic_variant, 0.0, NULL, NULL, 0.0}, {NULL, NULL, NULL, NULL, NULL, NULL}, {NULL, NULL, NULL, NULL, NULL, NULL}] 

This is because variant effect assessments other than VEP are not available for intergenic variants.

🛠 What does this PR implement

  • In these cases, we only extract the VEP prediction for the variantEffect struct but not the other variant effect assessments.
  • The vep output schema (the intergenic_consequences struct) is incorrect. This PR removes the incorrect fields.

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@github-actions github-actions bot added bug Something isn't working size-S Datasource labels Feb 25, 2025
@vivienho vivienho marked this pull request as ready for review February 25, 2025 15:58
@vivienho vivienho requested a review from DSuveges February 25, 2025 15:58
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When no transcript consequences were available, we were expecting in silico predictors being available in the intergenic_consequences field. This was an unfounded assumption leading to all null variant annotations. This PR sorts this out.

However, predictors unrelated to transcripts eg. conservation, cadd should be available even if the consequence of the variant is intergenic.

@DSuveges DSuveges merged commit a3a51f6 into dev Feb 26, 2025
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@DSuveges DSuveges deleted the vh-fix-nulls branch February 26, 2025 09:22
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