For Research Use Only. Not for use in diagnostics procedures. © Copyright 2015 by Pacific Biosciences of California, Inc. All rights reserved.

Reserve your seat for our workshop: 


Please attend our workshop to learn how having access to previously hidden structural variants and SNVs unique to a population, disease, or individual will increase our understanding of genetic diversity and open new frontiers to explore human health and disease. Register in advance as seats are limited.

Wednesday, October 7
1:00 p.m. – 2:30 p.m., EDT

Sheraton Inner Harbor Hotel, Chesapeake Ballroom I/II/III, 3rd Floor


Going to ASHG?

Not going to ASHG?

Mike Hunkapiller
President and Chief Executive Officer, Pacific Biosciences

Going Beyond the “$1,000 Genome” – The future of High Quality de novo Human Genomes, Epigenomes and Transcriptomes
Jonas Korlach, Ph.D.
Chief Scientific Officer, Pacific Biosciences

Medical Diagnostic Challenges and Structural Variation Detection using the PacBio Platform
Richard Gibbs, Ph.D.
Director, Baylor College of Medicine Human Genome Sequencing Center

Of Reference Genomes and Precious Metals
Richard Wilson, Ph.D.
Director, McDonnell Genome Institute, Washington University in St. Louis

Wednesday, October 7
2:30 p.m.  Addressing the Difficult Regions of the Genome, Room 309, Level 3
Long read single-molecule real-time (SMRT) full gene sequencing of cytochrome P450 2D6 (CYP2D6)
Y. Yang, Icahn School of Medicine at Mount Sinai
3:15 p.m. Switching on to Regulatory Variation, Ballroom III, Level 4
Comprehensive genome and transcriptome structural analysis of a breast cancer cell line using PacBio long read sequencing
M. Nattestad, Cold Spring Harbor
3:30 p.m. Think Globally, Act Locally: Copy Number Variation, Room 318/321, Level 3
Evolution and structural diversity of the complement factor H related gene cluster
S. Cantsilieris, University of Washington School of Medicine
Friday, October 9
2:15 p.m.  Going Platinum: Building a Better Genome, Room 316, Level 3
Building a platinum assembly from single haplotype human genomes generated from long molecule sequencing
K. Meltz Steinberg, Washington University
2:30 p.m. Going Platinum: Building a Better Genome, Room 316, Level 3
Building a Better Human Genome Reference and Targeting Structure using Single Molecule Technologies
R. Sebra, Icahn School of Medicine at Mount Sinai
2:45 p.m. Going Platinum: Building a Better Genome, Room 316, Level 3
Genome in a Bottle: You may have sequenced, but how well did you do?
J.M. Zook, National Institute of Standards and Technology
3:30 p.m. Going Platinum: Building a Better Genome, Room 316, Level 3
A Diploid Personal Human Genome Reference from Diverse Sequence Data – A Model for Better Genomes
K.C. Worley, Baylor College of Medicine
Saturday, October 10
10:45 p.m.  New Insights in Gene Regulation, Room 318/321, Level 3
#71: Full-length mRNA sequencing uncovers a widespread coupling between transcription and mRNA processing
S.Y. Anvar, Leiden University Medical Center

All posters are on display in Exhibit Hall, Level 1

Wednesday, October 7
5:00 p.m. Complex Traits and Polygenic Disorders
#851W: A polymorphic transposable element regulates FADS1 expression
C. Wadelius, Uppsala University

Psychiatric Genetics, Neurogenetics and Neurodegeneration
#1253W: Large-scale single-molecule sequencing of tandem repeats on the human X chromosome 
A. Zablotskaya, KU Leuven

Evolutionary and Population Genetics
#1487W: The birth of a human-specific neural gene by incomplete duplication and gene fusion 
M. L. Dougherty, University of Washington

Cancer Genetics
#2567W: Full-length cDNA Sequencing of Alternatively Spliced Isoforms Provides Insight into Human Cancer 
T. Clark, Pacific Biosciences

Cancer Genetics
#2697W: Highly Sensitive and Cost-Effective Detection of BRCA1 and BRCA2 Cancer Variants in FFPE Samples Using Multiplicom’s
MASTR Technology & Single Molecule, Real-Time (SMRT®) Sequencing 

S. Kujawa, Pacific Biosciences

Cancer Genetics
#2707W: Evaluation of single-molecule real-time long-read sequencing as a rapid-turnaround tool for validation of somatic mutations in
cancer genomics
A. Uzilov, Icahn School of Medicine at Mount Sinai
6:00 p.m. Bioinformatics and Genomic Technology
#1684W: A virtuous cycle of large cohort research, personal genome analysis, and clinical deployment 
N. Veeraraghavan, Baylor College of Medicine

Bioinformatics and Genomic Technology
#1834W: Updates in the human reference genome assembly (GRCh38) 
T. Rezaie, National Institutes of Health

Bioinformatics and Genomic Technology
#1792W: A realistic simulation for benchmarking germline and somatic mutation detection with long read sequencing 
B. Lau, Bina Technologies, Roche Sequencing

Clinical Genetic Testing
#1942W: CYP2D6 genotyping with the PacBio RS II using multiplex targeted long amplicon sequencing 
S. J. White, Leiden University Medical Center
Thursday, October 8
11:00 a.m. Epigenetics
#395T: HiTMAP: A High-Throughput Methylation Analysis Program for Targeted Bisulfite Sequencing 
B.S. Pullman, Icahn School of Medicine at Mount Sinai

Clinical Genetic Testing
#1937T: Accessing the Full Spectrum of Polymorphisms in HLA Class I & II Genes without Imputation for High-Throughput
Disease Association and Evolutionary Research
S. Ranade, Pacific Biosciences
12:00 p.m. Bioinformatics and Genomic Technology
#1838T: De novo assembly of a diploid Asian genome 
Y. Guo, University of Southern California

Bioinformatics and Genomic Technology
#1904T: Targeted SMRT® Sequencing and Alternative Splice Detection of cDNA using Roche NimbleGen SeqCap Enrichment 
D. Raterman, Roche NimbleGen

Clinical Genetic Testing
#2048T: HLA variant identification techniques in African Populations 
M. O. Pollard, Wellcome Trust Sanger Institute

Genome structure, variation and function
#3160T: Sequencing and typing of HLA class I genes by using a single-molecule, real-time sequencing technology 
Y. Kuroki, Tohoku University

Genome structure, variation and function
#3134T: Understanding the genetic structure of FCGR genes region for Kawasaki disease using sequence capture of target
fragments for long read sequencing
E. Png, Genome Institute of Singapore

Genome structure, variation and function
#3154T: Long single-molecule RNA sequencing detects novel variants in humans 
H. Yang, UCLA
Friday, October 9
10:45 a.m. Bioinformatics and Genomic Technology
#1683F: Apollo: A Production Tested, Vertically Integrated, Operations Enhanced, Science Aware Framework for Launching
Large Cohorts of Genomics Pipelines
R. Z. Castellanos, Mount Sinai School of Medicine

Bioinformatics and Genomic Technology
#1821F: Utilization of PacBio long-read sequencing in comprehensive genomics 
H. Doddapaneni, Baylor College of Medicine

Bioinformatics and Genomic Technology
#1917F: Long range phasing of cardiac disease genes using new long read sequencing technologies 
A. Dainis, Stanford University
11:45 a.m. Clinical Genetic Testing
#1938F: Comparison of third-generation sequencing with Sanger for HLA haplotyping in the context of a clinical study 
E. Palescandolo, Janssen R&D, Beerse

#414F: Epigenome Characterization of Human Genomes using the PacBio® Platform 
J. Korlach, Pacific Biosciences

Bioinformatics and Genomic Technology
#1764F: AnthOligo: Automated design of hybridization oligonucleotides for region-specific extraction of large contiguous
DNA fragments 

P. Jayaraman, Children's Hospital of Philadelphia

Bioinformatics and Genomic Technology
#1794F: Whole read overlap assembly accurately detects structural variants now in GRCh38 A. Mangubat, Spiral Genetics

Bioinformatics and Genomic Technology
#1842F: De Novo Assembly of the First Human Diploid Genome with Single-molecule Sequencing for Asian Genome Project 
M. Sohn, Seoul National University