Ph/re scale boqa raw log score #614
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I implemented the following method to re-scale the BOQA scores so that they can be combined with the variant score in Exomiser.
The boqaRawLogScores are calculated directly in BOQA from the four counts to avoid numerical instabilities.
This score has the following properties:
Here is the distribution of scores across ranks for 3000 phenopackets from phenopacket-score for which BOQA ranks the diagnosed disease first.
To implement this, I added a function in BOQA
BoqaPatientAnalyzerthat provides the BoqaPrioritizer in Exomiser with unnormalized BOQA log scores. See here: https://github.com/P2GX/BOQA/pull/32