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Wednesday, February 25

11:00 a.m. – 8:00 p.m.
Meeting Registration
Islands Ballroom Registration Desk

5:00 p.m. – 7:00 p.m.
Plenary Session:  Genetics (Eric Green, NHGRI, Chair)
Islands Ballroom

5:00 p.m. – 5:10 p.m.
Opening Remarks

5:10 p.m. – 5:40 p.m.
David Goldstein, Duke University School of Medicine
“Toward Precision Medicine in Neurological Disease”

5:40 p.m. – 6:10 p.m.         
Richard Lifton, Yale University School of Medicine

6:10 p.m. -  6:30 p.m.
Yaniv Erlich, Whitehead Institute for Biomedical Research
“Dissecting the Genetic Architecture of Complex Traits with 43 Million People”

6:30 p.m. – 6:50 p.m.
Steven McCarroll, Harvard Medical School
“A Common Pre-Malignant State, Detectable by Sequencing Blood DNA”

7:00 p.m. – 10:00 p.m.
Welcome Reception
Sunset Terrace

Thursday, February 26 (Morning)

7:30 a.m. – 9:00 a.m.
Breakfast
Capri Ballroom

8:00 a.m. – 3:00 p.m.
Meeting Registration
Islands Ballroom Registration Desk

Plenary Session: Genomics I (John McPherson, Ontario Institute for Cancer Research, Chair)
Islands Ballroom

9:00 a.m. – 9:30 a.m.
Evan Eichler, University of Washington

9:30 a.m. – 10:00 a.m.
Elaine Mardis, Washington University School of Medicine

10:00 a.m. – 10:30 a.m.
Coffee Break
Collier Hall

10:30 a.m. – 11:00 a.m.
Nuria Lopez-Bigas, Universitat Pompeu Fabra, Barcelona
“Therapeutic Landscape of Cancer Drivers”

11:00 a.m. – 11:20 a.m.
* Meredith L. Carpenter, Stanford University
“PhenoCap: A Targeted Capture Panel for Comprehensive Phenotyping of Forensic DNA Samples”

Thursday, February 26 (Afternoon)

12:00 p.m. – 1:00 p.m.
Illumina, Inc. Workshop
(Complimentary Lunch Provided)
Palms Ballroom

12:00 p.m. – 1:00 p.m.
Lunch
Sunset Terrace

1:00 p.m. – 2:30 p.m.
Poster Session with Coffee & Dessert
Collier Hall

Plenary Session: Evolutionary Genomics (Len Pennacchio, Lawrence Berkeley National Laboratory, Chair)
Islands Ballroom

2:30 p.m. – 3:00 p.m.
Sarah Tishkoff, University of Pennsylvania

3:00 p.m. – 3:30 p.m. 
David Page, Whitehead Institute

3:30 p.m. – 4:00 p.m.
Erich Jarvis, Duke University

4:00 p.m. – 4:20 p.m.
Coffee Break
Collier Hall

4:20 p.m. – 4:40 p.m.
* Jessica Alfoldi, Broad Institute of MIT and Harvard
“Evolution Two Ways: Natural and Artificial Selection in Vertebrate Genomes”

4:40 p.m. – 5:10 p.m.
James Bradner, Dana Farber Cancer Institute

Thursday, February 26 (Evening)

5:15 p.m. – 7:15 p.m.
Software Demo Session
Marco Island Hilton
Dinner Provided

5:00 p.m. – 7:30 p.m.
Dinner on your own

Concurrent Session: Biology, (Robert Lyons, University of Michigan, Chair)
Islands Ballroom

7:30 p.m. – 7:50 p.m.
Hie Lim Kim, Nanyang Technological University
“Khoisan Hunter-Gatherers Have Been the Largest Population Throughout Most of Modern Human Demographic History”

7:50 p.m. – 8:10 p.m.
Karyn Meltz Steinberg, The Genome Institute at Washington University
“FinMetSeq: Exome Sequencing of 20,000 Finns Identity Known and Novel Associations With Cardiometabolic Traits”

8:10 p.m. – 8:30 p.m.
Charlotte Lindqvist, SUNY at Buffalo
“Genome-Scale Investigations of Population Dynamics and Speciation in Polar and Brown Bear”

8:30 p.m. – 8:50 p.m.
Beth Shapiro, University of California Santa Cruz

“The Evolutionary Consequences of Interspecies Hybridization: Insights From Brown and Polar Bear Genomes”

8:50 p.m. – 9:10 p.m.
Matthew Blow, D.O.E. Joint Genome Institute
“Sequencing-Based Approaches for Genome-Scale Functional Annotation”

9:10 p.m. – 9:30 p.m.
Max Seibold, National Jewish Health
“Integrated RNA-Seq of Host and Microbe in the Nasal Airway of Childhood Asthmatics”

Concurrent Session: Informatics, Paul Flicek, (European Bioinformatics Institute, Chair)
Salons E & F           

7:30 p.m. – 7:50 p.m.
Neil Weisenfeld, The Broad Institute of MIT and Harvard
“Personal Genome Assembly”        

7:50 p.m. – 8:10 p.m.
James Gurtowski, Cold Spring Harbor Laboratory
“Error Correction and de novo Assembly of Oxford Nanopore Sequencing”

8:10 p.m. – 8:30 p.m.
Wan-Ping Lee, Seven Bridges Genomics
“Accurate Read Mapping Using a Graph-Based Human Genome”

8:30 p.m. – 8:50 p.m.
Jeremy Bruestle, Spiral Genetics
“Anchored Assembly: Accurate Structural Variant Detection Using Short-Read Data”

8:50 p.m. - 9:10 p.m.
Richard Leggett, The Genome Analysis Centre
“Towards Real-Time Surveillance Approaches Using Nanopore Sequencers”

9:10 p.m. – 9:30 p.m.
Serafim Batzoglou, Stanford University
“A Full Diploid Assembly of a Breast Cancer Genome Using Read Clouds”

Concurrent Session: Cancer, (John McPherson, Ontario Institute for Cancer Research, Chair)
Salons G through J

7:30 p.m. – 7:50 p.m.
David Jaffe, Broad Institute of MIT and Harvard
De novo Identification of Somatic Mutations in Cancer”

7:50 p.m. – 8:10 p.m.
Phil Stephens, Foundation Medicine
“Pancreatic Acinar Cell Carcinomas Harbor Recurrent RAF Fusion and Frequent Inactivation of DNA Repair Genes”

8:10 p.m. – 8:30 p.m.
Jaeseung Kim, Ontario Institute for Cancer Research
“Utility of High-Throughput Sequencing in Identification of Cryptic Genomic Lesions in Complex Karyotype Leukemia”

8:30 p.m. – 8:50 p.m.
Brian Wilhelm, University of Montreal
“Integrated Genetic and Epigenetic Analysis of Model and Patient Acute Myeloid Leukemias”

8:50 p.m. – 9:10 p.m.
Chang Chan, Rutgers Cancer Institute of New Jersey
“The Evolution of Thymic Lymphomas in p53 Knock-Out-Mice”

9:10 p.m. – 9:30 p.m.
Nicholas Navin, MD Anderson Cancer Center
“Single Cell Sequencing Identifies Clonal Stasis and Punctuated Copy Number Evolution in Triple-Negative Breast Cancer Patients”

Friday, February 27 (Morning)

7:30 a.m. – 9:00 a.m.
Breakfast
Capri Ballroom
                                                                       
Plenary Session: Clinical (Sharon Plon, Baylor College of Medicine, Chair)
Islands Ballroom

9:00 a.m. – 9:30 a.m.
Gail Jarvik, University of Washington
“Clinical Genomics: Lessons From the Clinical Sequencing Exploratory Research (CSER) Consortium”

9:30 a.m. – 10:00 a.m.
Euan Ashley, Stanford University School of Medicine

10:00 a.m. – 10:30 a.m.
Levi Garraway, Dana Farber Cancer Institute

10:30 a.m. – 11:00 a.m.
Coffee Break
Collier Hall

11:00 a.m. – 11:20 a.m.
* Stephen Kingsmore, Children’s Mercy Kansas City
“Newborn Sequencing in Genomic Medicine and Public Health: Rapid Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units”

11:20 a.m. – 11:40 a.m.
* Christian Matranga, Broad Institute of MIT and Harvard
“Rapid Full-Length Sequencing of Lassa and Ebola Viruses: A Model for Genomic Pathogen Surveillance”

11:40 a.m. – 12:00 p.m.
* Malachi Griffith, Washington University School of Medicine
“Optimizing Tumor Genome Sequencing and Analysis”

Friday, February 27 (Afternoon)

12:00 p.m. – 2:00 p.m.
Pacific Biosciences – Workshop
(Complimentary Lunch Provided)
Palms Ballroom

12:00 p.m. – 1:00 p.m.
Lunch
Sunset Terrace

Bronze Sponsor Workshops
Islands Ballroom

2:00 p.m. – 2:20 p.m.
Marc Unger, Fluidigm Corporation
“Revolutionizing Our View of the Genome and Transcriptome Through Innovative Sequencing Workflows”

2:20 p.m. – 2:40 p.m.
Joe Beechem, NanoString Technologies, Inc.
“800-Plex Multi-Omic Analysis by Simultaneous Digital Counting of Nucleic-Acids and Proteins”

2:40 p.m. – 3:00 p.m.
New England BioLabs, Inc.

3:00 p.m. – 3:20 p.m.
Maryke Appel, KAPA Biosystems
“The Evolution of Library Prep: Selecting for Both Quality and Speed”

3:20 p.m. – 3:40 p.m.
Coffee Break
Collier Hall

3:40 p.m. – 4:00 p.m.
Roche Sequencing

4:00 p.m. – 4:20 p.m.
Jason Myers, Enzymatics, Inc.
“Sequencing That Counts – Applications of Anchored Multiplex PCR in the Detection of Copy Number Variation”

4:20 p.m. – 4:40 p.m.
Promega Corporation

4:40 p.m. – 5:00 p.m.
10X Genomics

Friday, February 27 (Evening)

5:00 p.m. – 6:25 p.m.
Poster Session with Wine Reception
Collier Hall

6:25 p.m. – 7:25 p.m.
Dinner
Sunset Terrace

Concurrent Session: Technology, (Ken Dewar, McGill University and Genome Quebec Innovation Centre, Chair)
Islands Ballroom

7:30 p.m. – 7:50 p.m.
Iain Macaulay, Wellcome Trust Sanger Institute
“G&T-seq: Separation and Parallel Sequencing of the Genomes and Transcriptomes of Single Cells”

7:50 p.m. – 8:10 p.m.
Evan Macosko, Harvard Medical School
“DropSeq: A Droplet-based Technology for Single-Cell mRNA-Seq Analysis on a Massive Scale”

8:10 p.m. – 8:30 p.m.
Andrea Kohn, University of Florida
“Single-Cell Methylome Profiling: Integration of a Transcriptome and Methylome From Individual Identified Neurons”

8:30 p.m. – 8:50 p.m.
Sara Goodwin, Cold Spring Harbor Laboratory
“An in Depth Evaluation and Optimization of the Oxford MinION Device for de novo and cDNA Sequencing”

8:50 p.m. – 9:10 p.m.
Tim Smith, U.S. Meat Animal Research Center
“A Genome Assembly of the Domestic Goat from 70x Coverage of Single Molecule Real Time Sequence”

9:10 p.m. – 9:30 p.m.
Amy Ly, The Genome Institute at Washington University
“PacBio Application – Influenza Viral RNA-Seq”

Concurrent Session: Genomic Medicine (Heidi Rehm, Partners Healthcare Center for Personalized Genetic Medicine, Chair)
Salons E & F

7:30 p.m. – 7:50 p.m.
Donna Muzny, Baylor College of Medicine
“A Virtuous Cycle of Research and Translation Improves Novel Gene Discovery and Diagnostic Rates”

7:50 p.m. – 8:10 p.m.
Jason Underwood, University of Washington
“Blood-Seq: Toward High Resolution Blood Typing via High Throughput DNA Sequencing”

8:10 p.m. – 8:30 p.m.
Shaolei Teng, Cold Spring Harbor Laboratories
“Targeted Resequencing of the 264 DISC1 Interactome Genes in 1543 Individuals”

8:30 p.m. – 8:50 p.m.
Somasekar Seshagiri, Genentech, Inc.
“Spectrum of Diverse Genomic Alterations Define Non-Clear Cell Renal Carcinoma Subtypes”

8:50 p.m. – 9:10 p.m.
Roman Yelensky, Foundation Medicine
“A Novel Next Generation Sequencing (NGS)-Based Companion Diagnostic Predicts Response to the PARP Inhibitor Rucaparib in Ovarian Cancer”

9:10 p.m. – 9:30 p.m.
Gustavo Cerqueira, The Broad Institute of MIT and Harvard
“Genomic Characterization of U.S. Hospital-Associated Carbapenem Resistant Enterobacteriaceae (CRE) Indicates High Mobility of blaKPC Gene Among Strains”

Concurrent Session: Transcriptomics (Andre Marziali, University of British Columbia, Chair)
Salons G through J

7:30 p.m. – 7:50 p.m.
L. Stirling Churchman, Harvard Medical School
"High Resolution Architecture of Human Transcriptional Activity Revealed by Native Elongating Transcript Sequencing"

7:50 p.m. – 8:10 p.m.
Martin Hirst, BC Cancer Agency
“A High-Throughput Method for Single-Cell Whole-Genome Bisulfite Sequencing”

8:10 p.m. – 8:30 p.m.
Anoja Perera, Stowers Institute
“Transcriptome Analysis of Single, Migratory Neural Crest Cells”

8:30 p.m. – 8:50 p.m.
Lia Chappell, Wellcome Trust Sanger Institute
“Revealing Malaria Parasite Transcriptomes Using Directional, Amplification-Free RNA-seq”

8:50 p.m. – 9:10 p.m.
Wei Chen, Max-Delbruck-Centrum (MDC)
“Neural Circular RNAs Are Derived From Synaptic Genes and Regulated by Development and Plasticity”

9:10 p.m. – 9:30 p.m.
Jonathan Mudge, Sanger Institute
“Detangling Transcriptional Complexity in GENCODE Using Cutting-Edge Transcriptomics and Proteomics Data”

Saturday, February 28 (Morning)

7:30 a.m. – 9:00 a.m.
Breakfast
Capri Ballroom

Plenary Session: Genomics II (Mike Zody, New York Genome Center, Chair)
Islands Ballroom

9:00 a.m. – 9:30 a.m.
Michael Fischback, University of California, San Francisco
“Insights From a Global View of Secondary Metabolism: Small Molecules From the Human Microbiota”

9:30 a.m. – 10:00 a.m.
Rob Knight, University of Colorado, Boulder

10:00 a.m. – 10:30 a.m.
David Epstein, ProPublica

10:30 a.m. – 11:00 a.m.
Coffee Break
Capri Ballroom

11:00 a.m. – 11:20 a.m.
* Christopher Mason, Weill Cornell Medical College
“City-Scale DNA Dynamics, Disease Surveillance, and Metagenomics Profiling”

11:20 a.m. – 11:40 a.m.
* Gene Myers, Max Planck Institute – CBG
“Low Coverage, Correction-Free Assembly for Long Reads”

11:40 a.m. – 12:00 p.m.
* Tatiana Moroz, University of Florida
“Space Genomics: Epigenomic Mechanisms for Adaptations to Microgravity During Long-Term Orbital Flights”

Saturday, February 28 (Afternoon)

12:00 p.m. – 1:00 p.m.
Life Technologies – Workshop

(Complimentary Lunch Provided)
Palms Ballroom

12:00 p.m. – 1:00 p.m.
Lunch
Sunset Terrace

1:00 p.m. – 2:00 p.m.
Agilent Technologies – Workshop
(Complimentary Lunch Provided)
Islands Ballroom

Plenary Session: Technology (Elaine Mardis, Washington University School of Medicine, Chair)
Islands Ballroom

2:00 p.m. – 2:30 p.m.
Feng Zhang, Broad Institute of MIT and Harvard

2:30 p.m. – 3:00 p.m.
Barbara Wold, California Institute of Technology

3:00 p.m. – 3:20 p.m.
* Michael Talkowski, Harvard Medical School
“Modeling Structural Variation and Genomic Disorders Using CRISPR/Cas9 and Integrative Genomics”

3:20 p.m. – 3:40 p.m.
* Manolis Kellis, Massachusetts Institute of Technology

“Regulatory Genomics and Epigenomics of Common and Rare Variants”

3:40 p.m. – 4:00 p.m.
* Hanlee P. Ji, Stanford University School of Medicine
“Whole Genome Sequencing of Primary Tumors With Droplet-Based Large DNA Molecule Assignment and Megabase-Scale Phasing of Clinically-Actionable Genetic Aberrations”

4:00 p.m. – 4:30 p.m.
Closing Comments and Meeting Feedback

7:00 p.m. – 12:00 a.m.
Farewell Dinner Party
Islands Ballroom

* ABSTRACT SELECTED TALKS

 

 
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