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monarch-initiative / pheval

A framework for empirical evaluation of phenotype matching and prioritisation
https://monarch-initiative.github.io/pheval/
Apache License 2.0
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333 allow multiple genes/gene identifiers for a single ranked result #334

Closed yaseminbridges closed 3 months ago

yaseminbridges commented 3 months ago

Some tools may output alternate gene identifiers/symbols for the same top-ranked variant (AI-MARRVEL as an example).

To allow for this, the post-processing has now allowed for either a single gene symbol/identifiers or a list of gene symbols/identifiers - this avoids breaking the other runners.

The benchmarking code for the gene analysis has also been altered - processing either a list of gene symbols/gene identifiers or a single one to match against the causative gene(s)