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Extracting and calibrating evidence of variant pathogenicity from population biobank data

Vineel Bhat, Tian Yu, Lara Brown, Vikas Pejaver, Matthew S. Lebo, Steven M. Harrison, Christopher A. Cassa

2025The American Journal of Human Genetics9 citationsDOIOpen Access PDF

Topics & Concepts

BiobankOdds ratioMedical geneticsGeneticsPopulationOddsDiseaseBiologyMedicineBioinformaticsInternal medicineGeneLogistic regressionEnvironmental healthGenomics and Rare DiseasesGenetic Associations and EpidemiologyGenomic variations and chromosomal abnormalities
Extracting and calibrating evidence of variant pathogenicity from population biobank data | Litcius