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Tuesday, February 18, 2014

AGBT Day 3 Highlights: Single Contigs, Dazzling Assemblers, Novel Isoforms & Honey Algorithms

Friday morning’s talks were exceptional, and included genomics heavy-hitters Dick McCombie and Gene Myers — both scientists who were truly influential in sequencing the human genome so many years ago. They have kept pushing boundaries, and their talks were fascinating. Cold Spring Harbor Laboratory’s McCombie offered a presentation based on a late-breaking abstract showing the importance of de novo assembly — rather than resequencing, which can miss structural differences — using SMRT® Sequencing. He showed data from genome sequences of two strains of yeast (S. cerevisiae and S. pombe), both of which were generated using P5-C3 chemistry with BluePippin™ size…

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Saturday, February 15, 2014

AGBT Day 1 & 2 Highlights: Hello GRCh38 & SMRT Sequencing for Pathogen Screening

AGBT 2014 is off to a roaring start – the opening reception was hastily moved indoors when an impressive thunderstorm joined the party. Wednesday’s kickoff plenary session offered an insightful view of the recently released human genome reference, known as GRCh38, which is available with GenBank accession GCA_000001405.15. Valerie Schneider from the National Center for Biotechnology Information gave a presentation on the latest build, highlighting improvements that range from alternate loci to modeled centromeres to error correction of individual bases. The Genome Reference Consortium resolved more than 1,000 reported issues from build 37 with the release of this new build…

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Wednesday, February 12, 2014

Data Release: ~54x Long-Read Coverage for PacBio-only De Novo Human Genome Assembly

We are pleased to make publicly available a new shotgun sequence dataset of long PacBio® reads from a human DNA sample. We previously released sequence data using Single Molecule, Real-Time (SMRT®) Sequencing of ~10x coverage of this sample, sufficient for reference-based detection of structural variation. Today we expand on that release with additional data that increases the total sequencing coverage to ~54x.  This long-read data has enabled the generation of the first de novo human genome assembly from PacBio-only sequence reads. Download the 54x long-read coverage dataset. The dataset was generated from sequencing a well-studied human cell line (CHM1htert), which…

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Tuesday, February 11, 2014

AGBT 2014 Preview: Long reads, long flight, long days!

We are flying cross-country to Marco Island, Florida, to attend the fifteenth annual Advances in Genome Biology and Technology conference and, as we have done for years now, we are proud to be sponsoring the event. This year we look forward to connecting with the many researchers who already work with SMRT® Sequencing data, and to meeting others whose scientific efforts could benefit from our technology’s uniquely long reads and base modification information. Here are some of the presentations we’ll be attending: Evan Eichler, University of Washington, “Advances in Sequencing Technology Identify New Mutations, Genes and Pathways Related to Autism” …

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