Kylie Montgomery is a PhD candidate working at the interface of genomics, rare disease, and functional variant interpretation. Her work focuses on developing diagnostically deployable long-read sequencing workflows, with particular emphasis on transcriptome sequencing and splice-altering variation. Kylie is interested in translating advanced sequencing technologies into routine clinical practice, improving resolution of variants of uncertain significance, and bridging wet-lab, computational, and clinical genomics to increase diagnostic yield in unsolved genetic disease.