Daniele Malpetti

Integrating Genomic Annotations and Traits Dependencies for single-nucleotide polymorphisms Prioritization with Causal Concept Bottleneck Models

Predicting common traits from single-nucleotide polymorphism (SNPs) data is challenging due to polygenicity, small effect sizes, and the presence of potentially mediated or spurious cross-trait associations. We propose a modeling approach that combines genomic annotations with known cross-trait relations by leveraging...