Many investigators rely on targeted sequencing approaches for deep dives into genomic regions of interest. By designing specific probes -- often using short-read sequences directed towards the exome and supported by existing reference genomes or transcriptome assemblies -- scientists can home in on exactly the area they want to explore. But what about sequences in intergenic regions not covered by short reads, which could contain crucial regulatory elements varying between populations that might be of functional and evolutionary importance? Or, what about species lacking high-quality reference genomes to guide probe design? A team of Norwegian researchers are tackling these challenges…
Many scientists who participated in the original Human Genome Project shared a grand vision that individual genomes would one day be part of routine medical care. Genomics veteran Richard Gibbs, founder and Director of the Genome Sequencing Center at Baylor College of Medicine, tells Mendelspod host Theral Timpson in a new podcast interview that “we are more than halfway [there].” In the podcast, Gibbs shares his perspective on the complementary roles that genomics and genetics approaches have in driving our understanding of human biology. He noted that long before the Human Genome Project gained momentum, the discovery of human single…
Happy DNA Day, everyone! This scientific celebration has us reflecting on the many advancements the community has made in the past year. For a molecule that is sequenced thousands of times a day all over the world, there is still much to learn. Today we’d like to honor some of the remarkable science enabled by SMRT Sequencing since last year’s DNA Day. Scientists have continued to make progress exploring regions of the genome that have long been considered intractable. Two of our favorite stories this year came from the always-challenging Y chromosome. Researchers studying the mosquitoes that carry malaria…
We’re already looking forward to next month’s Personalized Medicine World Conference. Long before “precision medicine” was an industry catchphrase, PMWC was bringing together stakeholders from genomics companies and academic research, regulatory agencies, clinical groups, pharma/biotech, and more. Launched in 2009, the meeting has prompted important discussions as well as insight about how to move the field forward in a thoughtful way. From January 24th to the 27th, some 1,200 PMWC attendees will descend on the Computer History Museum in Mountain View, Calif. The event will kick off with a reception honoring the four awardees of this conference: Merck’s Roger Perlmutter…
We are proud to announce the introduction of several new solutions for targeted sequencing and sample multiplexing on the PacBio® Sequencing System. New Targeted Sequencing Workflow through Collaboration with Roche NimbleGen Today we announced a new workflow that combines Roche NimbleGen’s SeqCap EZ enrichment technology with large DNA fragments (up to 6 kb) and our Single Molecule, Real-Time (SMRT®) Sequencing to provide a more comprehensive view of variants, transgene integration sites, and haplotype information over multi-kilobase contiguous regions. The laboratory workflow is described in a shared protocol. For each targeted region, SAMtools are used to phase and bin reads by…