Understanding how genetic variation contributes to phenotypic variation is a fundamental
question in genetics. Genome-wide association studies (GWASs) have discovered …

Multiplexed assays of variant effect (MAVEs) are a critical tool for researchers and clinicians
to understand genetic variants. Here we describe the 2024 update to MaveDB (https://www …

Map** enhancers and their target genes in specific cell types is crucial for understanding
gene regulation and human disease genetics. However, accurately predicting enhancer …

Background Massively parallel reporter assays (MPRAs) are an experimental technology for
measuring the activity of thousands of candidate regulatory sequences or their variants in …

Polygenic risk scores (PRS) predict complex traits by aggregating genetic effects across the
genome, yet most models focus on common variants, overlooking rare variants that may …

Rare diseases are collectively common, affecting approximately one in twenty individuals
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …

Deep neural networks (DNNs) lack the precise semantics and definitive probabilistic
interpretation of probabilistic graphical models (PGMs). In this paper, we propose an …

Genetic association studies provide a unique tool for identifying causal links from genes to
human traits and diseases. However, it is challenging to determine the biological …