Lorenzo Bomba

The paper develops genetic scores for 17,227 molecular traits using multi-omic data from INTERVAL and validates them across ancestries, demonstrating their utility in pathway analysis and disease association discovery.

The paper investigates the functional consequences of SLC6A1 variants, finding haploinsufficiency underlies neurodevelopmental phenotypes and identifying missense residues sensitive to substitution.

BITE, an R package, wraps SNP quality control, Kolmogorov-Smirnov-checked representative subsampling, color-consistent ancestry plots, and bootstrap-supported TreeMix gene-flow trees for biodiversity genomics.