Elaine Mardis, co-director of the Genome Institute at Washington University (St Louis, MO, USA), is an expert in genome sequencing technologies, having been involved in developing and automating the methods employed in sequencing the human genome. Professor Mardis has made key contributions to the Human Genome Project and more recently, to the field of cancer genomics, including work in The Cancer Genome Atlas. Her current research interests lie in next-generation sequencing and analysis of cancer genomes and the translation of these findings to support therapeutic decision making.