Alicja Wilk

Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions

This paper introduces CardioBoost, a disease-specific variant classifier for inherited cardiac conditions, showing improved accuracy in predicting pathogenicity compared to genome-wide tools.

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: The case of hypertrophic cardiomyopathy

The paper quantifies variant pathogenicity in hypertrophic cardiomyopathy using etiological fraction, increasing actionable variant detection by 14-20%.

CardioClassifier: demonstrating the power of disease- and gene-specific computational decision support for clinical genome interpretation

CardioClassifier is a decision-support tool for inherited cardiac conditions that improves variant interpretation by integrating disease-specific annotations and case data.