Insights into Human Genome Sequencing & Pathogen Surveillance using Very Long Reads

Presented by Dr Robert Sebra
Director of Technology Development & Assistant Professor Icahn School of Medicine,
Mount Sinai Institute for Genomics and Multiscale Biology, New York, USA

Despite the advances in next-generation sequencing technologies over the past decade, a variety of hard to sequence repetitive regions and structural variations in the human genome remain ambiguous. PacBio single molecule real time (SMRT) long-read sequencing has the ability to uncover such regions, many of which are exonic and have potential clinical utility. Here we will present progress in using long reads to improve human genome sequencing, and assembly of bacterial genomes for pathogen.