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AGBT Conference: Addressing complex disease and hidden heritability with the Sequel System

Korlach, Jonas
PacBio

2016

Description +

Jonas Korlach presents data from the new Sequel System and discussed the value of SMRT Sequencing for addressing complex disease. He shows comparisons of Sequel data to PacBio RS II data in applications such as targeted sequencing of structural variants, somatic variation detection of cancer samples, and full-length isoform transcript sequencing.

AGBT Conference: Evolving approaches to reference assembly improvement

Schneider, Valerie
National Center for Biotechnology Information

2016

Description +

Valerie Schneider speaks about Genome Reference Consortium efforts to improve assembly of the human reference genome. SMRT Sequencing has been useful for resolving some highly repetitive regions, like the mucin genes. Haploid assemblies produced with long-read sequencing are also making complex regions more tractable.

AGBT Conference: Long-read sequence of the gorilla genome

Hill, Christopher
University of Washington

2016

Description +

Christopher Hill presents data from efforts to produce reference-grade assemblies for the great ape species. Using SMRT Sequencing, Hill and his colleagues are generating assemblies with much higher contiguity to resolve repetitive and other particularly complex regions. In this talk, he focuses on data from their new high-quality gorilla assembly.

AGBT Conference: The first African reference genome assembly

Meltz Steinberg, Karyn
McDonnell Genome Institute, Washington University in St. Louis

2016

Description +

Karyn Meltz Steinberg presents the first high quality African reference genome assembly of the Yoruban individual, NA19240, produced from SMRT Sequencing data. She said PacBio sequencing offers significant improvement over short-read sequence data for high-quality assemblies.

AGBT Roche and PacBio Workshop: Closing remarks

Korlach, Jonas
PacBio

2016

Description +

In his closing remarks, PacBio CSO Jonas Korlach comments on the trends of whole genome sequencing, and the recognition of the need for higher-quality human genome assemblies. He also demonstrated that long-read sequencing allows scientists to find SNPs and structural variants while also analyzing epigenetics and phasing genes or variants.

AGBT Roche and PacBio Workshop: Leveraging SMRT Sequencing technology for developing niche assays with diagnostic potential

Sebra, Robert
Icahn School of Medicine at Mount Sinai

2016

Description +

Robert Sebra reports the use of SMRT Sequencing at the Icahn Institute and presents some early data from the new Sequel System. Topics include: Targeted sequencing applications for CYP2D6 metabolism and Gaucher disease, tandem repeat detection in FTD/ALS patients, structural variation detection for Goldenhar Syndrome, inverted PCR assays for detection of DNA damage in Glioblastome, whole gene BRCA sequencing, and sensitive somatic variant detection in heterogeneous tissues.

AGBT Roche and PacBio Workshop: Towards precision medicine

Ashley, Euan
Stanford University

2016

Description +

Euan Ashley speaks about precision medicine and said clinical-grade analysis has been limited by complex regions in the human genome. His key theme,”Precision medicine needs to be accurate medicine,” was illustrated with several examples where short-read sequencing or traditional clinical sequencing methods failed to be accurate. Also included: targeted RNA sequencing and gene phasing with long-read sequencing.

AGBT Virtual Poster: An improved circular consensus algorithm with an application to detect HIV-1 Drug Resistance Associated Mutations (DRAMs)

Paxinos, Ellen
PacBio

2016

Description +

In this poster presentation, PacBio scientist Ellen Paxinos describes an improved algorithm for circular consensus reads. Using this new algorithm, dubbed CCS2, it is possible to reach arbitrarily high quality across longer insert lengths at a lower cost and higher throughput than Sanger Sequencing. She shows results from the application of CCS2 to the characterization of the HIV-1 K103N drug-resistance associated mutation, which is both important clinically, and represents a challenge due to regional sequence context.

AGBT Virtual Poster: Comparative analysis of somatic fusion gene detection using short read and long read sequencing

Pandya, Chetanya
Icahn School of Medicine at Mount Sinai

2016

Description +

Bioinformatics scientist Chetanya Pandya from the Icahn School of Medicine at Mount Sinai presents a poster comparing short-read and long-read sequencing to detect somatic fusion events in cancer samples. SMRT Sequencing identified significantly more fusions, while many of the short-read calls may have been artifacts from challenging regions of the genome.

AGBT Virtual Poster: Long-read assembly of the Aedes aegypti Aag2 cell line genome resolves ancient endogenous viral elements

Seetin, Matthew
PacBio

2016

Description +

In this AGBT poster, PacBio bioinformatician Matthew Seetin presents a new assembly for Aedes aegypti cell line, the mosquito responsible for spreading viruses like Dengue and Zika. SMRT Sequencing generated a gapless assembly with a contig N50 of 1.4 Mb, compared to 82 kb in the previous assembly. The genome features a number of transposable elements and long tandem repeats.

Event

Precision Medicine World Conference (PMWC 2017)

January 23 - January 25, 2017

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