SMRT Sequencing is a go-to technology for generating reference-grade human genome assemblies, according to speakers in a recent webinar. In their presentations, Tina Graves-Lindsay from Washington University and Adam Ameur from Uppsala University spoke about diploid assemblies, discovering novel sequence, improving diversity of the current human reference genome, and much more. Finally, our own Paul Peluso gave a presentation that included the technology roadmap showing the next several upgrades for the Sequel System. Graves-Lindsay began with efforts from the Genome Reference Consortium to “represent the full range of genetic diversity in humans,” a task requiring the generation of many population-specific references.…
We can’t resist a good reference genome, so the pre-AGBT workshop entitled “Updating Reference Assemblies: New Technologies, New Sources of Diversity” was right up our alley. Hosted by the McDonnell Genome Institute, a member of the Genome Reference Consortium, the event offered conference attendees useful updates on efforts to expand the diversity of human reference genome sequences by incorporating samples from multiple continents of origin (the Americas, Africa, and Asia in addition to Europe). NCBI’s Valerie Schneider spoke about opportunities and challenges in mining assemblies other than the current GRCh38 build. There are more human genome assemblies than ever, she…
In a recent Mendelspod interview, host Theral Timpson talked with Valerie Schneider of the National Center for Biotechnology Information about the work of the Genome Reference Consortium (GRC) to bring more ethnic diversity to the latest human reference assembly (GRCh38). Describing the reference genome as something like a Rosetta Stone for scientists working with genomic data, Schneider says it is “really the central piece of data upon which most genomics-based analyses are done, [serving as] the coordinate system for annotations ranging from genes to repeats to epigenomic markers.” As the importance of increasing the representation of population diversity in this…