• Robert Sebra, Eric Schadt, et al. | Nature Methods | 29 June 2015

    Putting Genomes Together to Understand the Complexity of Life

    Assembly and diploid architecture of an individual human genome via single-molecule technologies

    We carried out the first study to sequence a human diploid genome using what are known as long-read DNA sequencing technologies, delivering the highest quality reference genome to date. Assembling a more accurate and complete genome is critical to our understanding of complex phenotypes such as human disease that have a genetic component.