In this Mendelspod episode, Theral explores the state of genome informatics with Ben Busby, Principal Scientist at DNAnexus.Busby reflects on his journey into the field, which was influenced by key projects and experiences during his time at the NCBI and his genomics hackathons. He outlines the current genome informatics landscape, emphasizing DNAnexus' role in fostering collaboration. Busby highlights transformative movements to refine disease subtyping based on haplotype data, underscoring their potential to reshape diagnostics and research.