Hilmar Lapp

The paper introduces BlueSTARR, a predictive modeling framework trained on whole-genome STARR-seq data to assess variant effects on regulatory functions, revealing purifying selection against loss-of-function and gain-of-function variants.

The paper introduces a Gold Standard corpus for ontology-based phenotype annotation and evaluates a tool's performance against human annotations.

The paper identifies intrinsic DNA-binding specificity differences between transcription factor paralogs that partly explain their distinct genomic binding patterns.