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variant-scoring

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kavya1a / regulatory-score-saturation

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Methodological investigation of calibration-statistic mismatch in deep learning regulatory variant prediction. Quantifies the saturation effect when published single-track quantile calibration is composed with max-over-tracks aggregation, and demonstrates the matched-calibration fix on AlphaGenome with Tewhey 2016 MPRA data.

bioinformatics gwas computational-biology quantile-normalization mpra fine-mapping regulatory-genomics alphagenome variant-scoring
  • Updated May 9, 2026
  • Python

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