October 10, 2014  |  General

ASHG 2014: A New Look at the Human Genome with Long-Read Sequencing

Scientists around the world are getting ready for the annual meeting of the American Society of Human Genetics taking place October 18-22 at the San Diego Convention Center. We’re looking forward to a number of excellent presentations and posters, and are delighted to see that many of them will focus on applying Single Molecule, Real-Time (SMRT®) Sequencing to human studies.

If you’ll be among those attending ASHG, be sure to attend our workshop, A New Look at the Human Genome – Novel Insights with Long-Read PacBio Sequencing, taking place 12:30 – 2:00 p.m. on Tuesday, October 21. Register in advance to reserve your seat or to receive the recording following the event. Our CSO, Jonas Korlach, will host the workshop, which includes:

* Increased Complexity of the Human Genome Revealed by Single-Molecule Sequencing
Evan Eichler, University of Washington 

* Defining a Personal, Allele-Specific, and Single-Molecule Long-Read Transcriptome
Hagen Tilgner, Stanford University

* Long-Read Multiplexed Amplicon Sequencing: Applications for Epigenetics and Pharmacogenetics
Stuart Scott, Icahn School of Medicine at Mount Sinai

In addition, here are some of the program presentations and posters we’re excited to see at the event:

Sunday, October 19

11:30 a.m.
Discovery and impact of balanced inversion polymorphisms
Jan Korbel, European Molecular Biology Laboratory

4:00 – 5:00 p.m.
1626S: Third generation sequencing and analysis of complete mitochondrial genomes
Gabriel Hoffman, Icahn School of Medicine at Mount Sinai

1665S: Completing CpG methylation statuses in human and vertebrate genomes by integrating SMRT sequencing kinetic data
Shinichi Morishita, University of Tokyo

5:00 – 6:00 p.m.
1656S: Genome in a Bottle: So you’ve sequenced a genome, how well did you do?
Justin Zook, NIST

Monday, October 20 

2:00 – 3:00 p.m.
1627M: Full-length, single molecule whole transcriptome sequencing reveals alternative 5’- start sites, splicoforms, and poly(A) addition signal sequences
David Munroe, NCI

1687M: Unique Haplotype structure determination in human genome using Single Molecule, Real-Time (SMRT®) Sequencing of targeted full-length fosmids
Kevin Eng, Pacific Biosciences

3375M: Highly sensitive, non-invasive detection of colorectal cancer mutations using single molecule, third generation sequencing
Giancarlo Russo, UZH/ETH Zurich

Tuesday, October 21

8:00 a.m.
Completion of The 1000 Genomes Project: Results, Lessons Learned and Open Questions
Goncalo R. Abecasis, University of Michigan School of Public Health

11:45 a.m.
High-throughput Determination of Long INterspersed Element-1 Integration Preferences in the Human Genome
Diane A. Flasch, University of Michigan Medical School

2:00 – 3:00 p.m.
1583T: Multiplexing strategies for HLA genotyping using DNA barcoding methods for SMRT® sequencing
Swati Ranade, Pacific Biosciences

3:00 – 4:00 p.m.
472T: Multiplexed and Quantitative DNA Methylation Analysis Using Long-Read Single-Molecule Real-Time (SMRT) Bisulfite Sequencing
Yao Yang, Icahn School of Medicine at Mt. Sinai

552T: Complex alternative splicing patterns in human hematopoietic cell subpopulations revealed by third-generation long reads
Anne Deslattes Mays, Georgetown University

1586T: Assessing novel centromeric repeat sequence variation within individuals by long read sequencing
Karen Miga, UC Santa Cruz

1622T: Resolving the ‘Dark Matter’ in Human Genomes through Long-Read Sequencing
Jonas Korlach, Pacific Biosciences

5:45 p.m.
Increased complexity of the human genome revealed by single-molecule sequencing
Mark Chaisson, University of Washington

Stop by booth #931 to contribute your ‘variation’ and in return, we’ll contribute to a charity on your behalf!  If you can’t make it to the event, you can follow the science at #ASHG14 or register to receive the recording of our workshop.

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