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Remove Duplicate Disease Results in PhEval TSV Output Based on Disease and Score #67

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yaseminbridges
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This addresses an issue where duplicated disease results were appearing in the PhEval TSV output during disease prioritisation in phenotype-only mode. Specifically, the same disease was being listed multiple times with identical scores, which was negatively affecting the ranking and penalising Exomiser’s performance.

The issue arose because the disease results were being retrieved at the gene-to-disease association level, leading to multiple entries for the same disease when different genes were linked to it.

@julesjacobsen julesjacobsen merged commit 68df039 into main Sep 30, 2024
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Duplicated Disease Results in PhEval TSV Output for Disease Prioritisation
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