PacBio CEO Mike Hunkapiller looks at the past, present, and future of human genome sequencing, reflecting on the 15-year anniversary of the announcements of the first human genomes, noting these efforts required considerable effort and produced draft assemblies with contig N50s in the 20-24 kb range. He unveils the PacBio® diploid assembly of Craig Venter’s genome.
Jeong-Sun Seo of Macrogen and Seoul National University College of Medicine reports on sequencing many Asian genomes to better understand genetic variation in that population. He shows that identifying certain structural variants may explain diseases that disproportionately affect Asian people.
In his talk from the PacBio workshop at AGBT 2015, Dick McCombie from Cold Spring Harbor Laboratory describes the use of SMRT Sequencing to analyze a breast cancer cell line with complex genomic events. Still ongoing, the project has already uncovered structural variants missed by other sequencers.
At the PacBio AGBT workshop, Gene Myers from the Max-Planck Institute said it will soon be possible to generate a near-perfect human assembly. He presents a portfolio of analysis and quality-control tools designed to work with SMRT Sequencing data.
In his talk from the AGBT 2015 PacBio workshop, Craig Venter detailed plans to sequence 1 million genomes and gather extensive phenotypic data to make sense of them. Included: generating 30 reference genomes to represent ethnogeographic diversity; the need for long-range continuity in sequencing; and truly predictive genomics.
Deanna Church, formerly of Personalis, describes the value of a finished human reference genome that fully represents genetic variation. In this talk from the PacBio workshop at AGBT 2015, she makes the case for generating high-quality sequence data and contributing it to databases for continued improvement of the human genome assembly.
PacBio customers and thought leaders discuss the role SMRT sequencing is playing in comprehensive genomics: past, present, and future. Featuring J. Craig Venter, Gene Myers, Deanna Church, Jeong-Sun Seo and W. Richard McCombie.
At AGBT 2017, Margaret Roy from Calico Life Sciences discussed a de novo genome sequencing effort for the naked mole rat. This animal has a remarkably long life span and resistance to cancer, both of which make it interesting for studies of life extension. The team is using SMRT Sequencing for a more complete, contiguous assembly than the two existing short-read-based assemblies. Included: data from the Sequel System.
In a talk at AGBT 2017, Histogenetics CEO Nezih Cereb reported on how SMRT Sequencing is allowing his team to produce full-length, phased sequences for HLA alleles, which are important for matching organ transplants to recipients. The company is typing thousands of samples per day on their PacBio RS II systems and their new Sequel System. Cereb noted that SMRT Sequencing is unique in its ability to reliably phase mutations in the HLA alleles without imputation. Cereb concluded with his plans to use this approach for other complex regions, such as KIR, and announced their continued increasing HLA typing capacity…
In this AGBT 2017 talk, PacBio CSO Jonas Korlach provided a technology roadmap for the Sequel System, including plans the continue performance and throughput increases through early 2019. Per SMRT Cell throughput of the Sequel System is expected to double this year and again next year. Together with a new higher-capacity SMRT Cell expected to be released by the end of 2018, these improvements result in a ~30-fold increase or ~150 Gb / SMRT Cell allowing a real $1000 real de novo human genome assembly. Also discussed: Additional application protocol improvements, new chemistry and software updates, and a look at…