James D. Fife

The paper develops FUSE, a framework that jointly estimates and imputes variant functional effects using deep mutational scanning data, improving variant impact predictions and clinical discrimination.

The paper introduces REGatta, a method to estimate clinical risk in gene regions using population sequencing data, identifying significant risk differences in breast cancer genes for rare missense variants.

This study identifies 21 genes whose rare variants affect LDL-C levels by altering cholesterol uptake, using CRISPR screening and co-essentiality analysis.

The paper uses prior ClinVar variant classifications to inform ACMG/AMP variant interpretation by identifying SNVs with similar functional consequences to pathogenic variants.

This paper integrates monogenic, polygenic, and clinical risk factors to predict disease risk for carriers of rare variants, identifying elevated risk in 18.22% of UK Biobank participants for breast cancer, familial hypercholesterolemia, and colorectal cancer.

This study identifies genetic pathways involved in remdesivir cytotoxicity using CRISPR-Cas9 screening and transcriptomics, finding that SLC29A3 and AK2 are key factors in toxicity and efficacy.