Dr. Mardis has research interests in the application of next-generation sequencing to characterize cancer genomes and transcriptomes, and using these data to support therapeutic decision-making. She co-led the teams that first used next-generation sequencing to characterize the whole genome of an AML patient (Nature 2008), first sequenced and compared a primary tumor to its metastasis and xenograft, and first reported whole genome sequencing of samples from a breast cancer clinical trial. Beyond cancer genomics discoveries, Dr. Mardis is leading efforts to facilitate the translation of basic science discoveries about human genetic diseases into the clinical setting, especially focused on the use of next-generation sequencing. Her translational research efforts aim to devise NGS-based diagnostics, decision-support tools and databases, and the use of genomics to design personalized cancer vaccines.