• Robert Sebra, Eric Schadt, et al. | Nature Biotechnology | 1 July 2015

    Pioneering a Novel Genome Assembly Approach

    A hybrid approach for the automated finishing of bacterial genomes

    One of the challenges in the field of genomics today is assembling complete genomes de novo, as opposed to using existing reference genomes to put a given genome together. By forcing the use of a reference genome, structural features in a given genome can be missed if they are absent in the reference, so the potential for discovery and clinical impact is reduced. We pioneered the first de novo assembly approach to assembling genomes using a combination of long and short read DNA sequencing technologies, demonstrating the ability to complete genomes de novo in an automated fashion, a necessary first step to achieve the vision of more comprehensive precision medicine