PacBio Informatics Workshop: Long-read Sequencing of Human Genomes

For Research Use Only. Not for use in diagnostics procedures.
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During this workshop, you will learn about the latest methods for PacBio sequencing of human genomes to comprehensively detect all variant types (SNVs, Indels, SVs, CNVs), and construct reference-quality human genome assemblies. New high accuracy long-read sequencing data from the Sequel II System will be used to describe analysis methods available to the community for human genetics research. The workshop will be presented by PacBio’s principal bioinformatics scientists, and includes a keynote presentation by Jonas Korlach, Chief Scientific Officer at PacBio.


Date: April 24, 2019  
Time: 9:00 a.m. - 2:00 p.m.
Location: Ewha Womans University, ECC Theater, Seoul, South Korea

Comprehensive Variant Detection with Highly Accurate Long Reads
William Rowell, Senior Scientist, Bioinformatics Applications

Assembly and Phasing of Human Genomes Using Highly Accurate Long-read Sequencing
Gregory Concepcion, Ph.D., Staff Engineer, Bioinformatics Applications
SMRT Analysis for Human Genomes
Wilson Cheng, Scientist II, Bioinformatics FAS

Latest Capabilities & Future Directions of PacBio Long-read Sequencing
Jonas Korlach, Ph.D., Chief Scientific Officer

Identifying Pathogenic Structural Variant in Unresolved Case of Epilepsy from PacBio Long-read WGS
Takeshi Mizuguchi, M.D., Ph.D., Department of Human Genetics
Yokohama City University Graduate School of Medicine
Toward an ethnic reference genome
Jun Takayama, Ph.D., Assistant Professor
Tohoku University INGEM

Accurate Characterization of Complex Isoforms in Bulk and Single Cell Transcriptome Using the PacBio Iso-Seq Method
Elizabeth Tseng, Ph.D., Principal Scientist