Daniel Louis Jacoby

The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic Transthyretin expression

This paper integrates genetic transcriptomics and electronic health records to show increased hepatic Transthyretin expression is linked to specific surgical procedures and health outcomes like osteoarthritis and carpal tunnel syndrome.

Biobank scale pharmacogenomics informs the genetic underpinnings of simvastatin use

This paper identifies associations between NAT2 haplotype variation and simvastatin use, showing NAT2*1 is linked to better response to simvastatin therapy.

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

The paper uses STRUM to predict subdomain stability in MYBPC3 variants, showing that variants causing misfolding are associated with higher adverse event rates in HCM patients.

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%.