[caption id="attachment_29573" align="alignright" width="200"] Justin Zook[/caption] A map of every individual’s genome will soon be possible, but how will we know if it is correct? Benchmarks are needed in order to check the performance of sequencing, and any genomes used for such a purpose should be comprehensive and well characterized. Enter the Genome in a Bottle Project (GIAB), a consortium of geneticists and bioinformaticians committed to the creation and sharing of high-quality reference genomes. Unlike other initiatives, such as the 1000 Genomes Project, that are seeking to sequence many representatives of different populations, GIAB is interested in sequencing just a…
[Update April 30, 2018: This paper is now published in Nature Methods.] Sniffles and NGMLR, structural variant detection and alignment algorithms developed in the Schatz lab for long-read sequence data, are already familiar to many in the PacBio community. Now, a preprint is available so users can see how these open-source tools perform in a variety of conditions. “Accurate detection of complex structural variations using single molecule sequencing” comes from lead author Fritz Sedlazeck at Baylor College of Medicine, senior author Michael Schatz at Johns Hopkins University, and collaborators. The team notes that long-read sequencing has introduced a much more…
We’re looking forward to the International Plant and Animal Genome conference, taking place January 9-13 in San Diego. PAG features leading plant and animal scientists from around the world, and we’re continually impressed by their new discoveries and creative approaches to understanding large and complex genomes. This year PAG attendees will have a number of opportunities to learn more about how SMRT Sequencing reveals new information about even well-characterized plant and animal genomes. We’ll be exhibiting in booth #421 — and showing off our new Sequel System — so please stop by and tell us about your work. We’ll also…