Genome-wide detection of human 5′ UTR variants that impact protein translation

Chaldebas et al. develop 5ULTRA, a computational method for prioritizing 5′ UTR variants that could alter protein translation. By integrating 17 features of 5′ UTR biology into a machine-learning model, 5ULTRA identifies and prioritizes pathogenic germline and somatic 5′ UTR variants in rare and common diseases or traits.