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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Allow multiple genes/gene identifiers for a single ranked result #333

Closed yaseminbridges closed 4 months ago

yaseminbridges commented 5 months ago

Some tools may include multiple transcripts for the same variant result, to allow for this in our post-processing we should allow for a list of genes and gene identifiers for a single result.

E.g,

Variant1 Gene1 0.8 Variant1 Gene2 0.8 Variant2 Gene3 0.7 …

will change to rank 1, score=0.8 => Gene1,Gene2 rank 2, score=0.7=>Gene 3