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Issue tracker for Open Targets Platform and Open Targets Genetics Portal
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Update Genetics Portal based disease/target evidence generation #3287

Closed DSuveges closed 2 months ago

DSuveges commented 2 months ago

Based on the discussion under #3282 and #3283, the parser to generate disease target evidence from Genetics Portal data needs to be updated with the following things:

Background

The rationale behind this update is that the interpretation of sQTLs is very complicated and cannot derive direction of effect. Also by chosing biggest effect, the sample size of the QTL study skews towards poorly powered studies. By picking the lowest p-value, we are going for the highest power + effect combination. All these changes are expected to improve the predictive power of direction of effect assessments.

Acceptance tests

  1. Validate newly created disease target evidence
  2. Make sure no splice QTLs are included and ensure the selection was done based on p-value
DSuveges commented 2 months ago

All good. The more detailed report on the benchmark is under #3283