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Ph/re scale boqa raw log score#614

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hansenp wants to merge 8 commits intoexomiser:boqafrom
P2GX:ph/re-scale-boqa-raw-log-score
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Ph/re scale boqa raw log score#614
hansenp wants to merge 8 commits intoexomiser:boqafrom
P2GX:ph/re-scale-boqa-raw-log-score

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@hansenp
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@hansenp hansenp commented Nov 25, 2025

I implemented the following method to re-scale the BOQA scores so that they can be combined with the variant score in Exomiser.

image

The boqaRawLogScores are calculated directly in BOQA from the four counts to avoid numerical instabilities.

This score has the following properties:

  1. Exomiser compatible: The maximum score is always 1.0, the lowest is 0.
  2. BOQA's ranking remains unchanged.
  3. The original BOQA scores are somehow reflected in the transformed BoqaExomiserScore (which is not the case with rank scaled score).

Here is the distribution of scores across ranks for 3000 phenopackets from phenopacket-score for which BOQA ranks the diagnosed disease first.

image

To implement this, I added a function in BOQA BoqaPatientAnalyzer that provides the BoqaPrioritizer in Exomiser with unnormalized BOQA log scores. See here: P2GX/BOQA#32

@julesjacobsen
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julesjacobsen commented Mar 20, 2026

Hi @hansenp is this ready to go now? If so, please set it as ready for review. Also, it needs to be merged into the boqa branch, not development.

@hansenp hansenp changed the base branch from development to boqa March 23, 2026 10:07
@hansenp hansenp marked this pull request as ready for review March 23, 2026 10:39
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hansenp commented Mar 23, 2026

@julesjacobsen I changed the base from develop to boqa. After that, I had to resolve a few conflicts. I resolved them and marked this PR as ready for review.

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3 participants