Sunday
2:00 pm - 9:00 pm
Arrival and Check-in
6:00 pm - 7:00 pm
Dinner
7:30 pm - 7:40 pm
Introductory Comments by GRC Site Staff / Welcome from the GRC Chair
7:40 pm - 9:30 pm
Keynote Session: The Future of Human Variation and Disease Science
Discussion Leader: Elizabeth Phimister (The New England Journal of Medicine, USA)
7:40 pm - 7:50 pm
Opening Remarks
7:50 pm - 8:00 pm
Introduction by Discussion Leader
8:00 pm - 8:35 pm
Evan Eichler (University of Washington / Howard Hughes Medical Institute, USA)
"Genetic Architecture of Neurodevelopmental Disease"
8:35 pm - 8:45 pm
Discussion
8:45 pm - 9:20 pm
Roderic Guigo (Center for Genomic Regulation (CRG), Spain)
"The Human Transcriptome Across Tissues and Individuals"
9:20 pm - 9:30 pm
Discussion
Monday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Emerging Classes of Variation and Disease
Discussion Leader: Tychele Turner (University of Washington, USA)
9:00 am - 9:10 am
Introduction by Discussion Leader
9:10 am - 9:40 am
Angela Brooks (University of California, Santa Cruz, USA)
"Cancer-Specific Transcript Variants"
9:40 am - 9:50 am
Discussion
9:50 am - 10:20 am
Ekta Khurana (Weill Cornell Medicine, USA)
"Non-Coding Genetic Variation in Cancer"
10:20 am - 10:30 am
Discussion
10:30 am - 10:55 am
Coffee Break
10:55 am - 11:25 am
Kai Tan (Children's Hospital of Philadelphia, USA)
"Identifying Risk Noncoding Variants Using a Systems Approach"
11:25 am - 11:35 am
Discussion
11:35 am - 12:05 pm
Michael Beer (Johns Hopkins University, USA)
"Making Sense of Regulatory Variants with Machine Learning"
12:05 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
Collin Tokheim (Johns Hopkins University, USA)
"Enhanced Context Reveals the Scope of Somatic Missense Mutations Driving Human Cancers"
12:25 pm - 12:30 pm
Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
3:00 pm - 4:00 pm
Power Hour
The GRC Power Hour is an optional informal gathering open to all meeting participants. It is designed to help address the challenges women face in science and support the professional growth of women in our communities by providing an open forum for discussion and mentoring.
Organizers: Rachel Karchin (Johns Hopkins University, USA) and Anna Panchenko (National Center for Biotechnology Information, NIH, USA)
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Genetic Testing in the Age of Whole-Genome and Whole-Exome Sequencing
Discussion Leader: Melissa Cline (UC Santa Cruz Genomics Institute, USA)
7:30 pm - 7:40 pm
Introduction by Discussion Leader
7:40 pm - 8:10 pm
Heidi Rehm (Massachusetts General Hospital, USA)
"Supporting Genomics in the Practice of Medicine"
8:10 pm - 8:20 pm
Discussion
8:20 pm - 8:30 pm
Elaine Hiller (Quest Diagnostics, USA)
"Leveraging gnomAD Sub-Population Frequency Data in Variant Interpretation"
8:30 pm - 8:35 pm
Discussion
8:35 pm - 8:45 pm
Nobuko Katagiri (U.S. Food and Drug Administration, USA)
"Understanding and Predicting the Effects of Sequence Variants in X-Linked Genes"
8:45 pm - 8:50 pm
Discussion
8:50 pm - 9:20 pm
Sharon Plon (Baylor College of Medicine, USA)
"The Growing Landscape of Genetic Susceptibility to Cancer"
9:20 pm - 9:30 pm
Discussion
Tuesday
7:30 am - 8:30 am
Breakfast
8:30 am - 9:00 am
Group Photo
9:00 am - 12:30 pm
Data-Driven Approaches for Precision Medicine
Discussion Leader: Malachi Griffith (Washington University in St. Louis, USA)
9:00 am - 9:10 am
Introduction by Discussion Leader
9:10 am - 9:40 am
Wolfgang Huber (European Molecular Biology Laboratory Heidelberg, Germany)
"Multi-Omics of Drug Sensitivity of Blood Cancers"
9:40 am - 9:50 am
Discussion
9:50 am - 10:20 am
Zoya Ignatova (University of Hamburg, Germany)
"Position Matters: Epistatically Interacting Substitutions and Their Role for Protein Biogenesis and Function"
10:20 am - 10:30 am
Discussion
10:30 am - 10:55 am
Coffee Break
10:55 am - 11:25 am
Joshua Denny (Vanderbilt University Medical Center, USA)
"Using Big Data to Accelerate Precision Medicine"
11:25 am - 11:35 am
Discussion
11:35 am - 12:05 pm
Gil Alterovitz (Harvard Medical School, USA)
"Fostering an Ecosystem via a 'Data Estate'"
12:05 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
Pier Luigi Martelli (University of Bologna, Italy)
"From Phenotypes to Molecular Mechanisms and Pathways"
12:25 pm - 12:30 pm
Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Biophysical Perspectives on Variation and Disease
Discussion Leader: Carlos Araya (Jungla Inc., USA)
7:30 pm - 7:40 pm
Introduction by Discussion Leader
7:40 pm - 8:10 pm
John Chodera (Memorial Sloan Kettering Cancer Center, USA)
"What Can Physical Modeling Tell Us About Mutational Mechanisms of Kinase Inhibitor Resistance?"
8:10 pm - 8:20 pm
Discussion
8:20 pm - 8:30 pm
Aikaterini Alexaki (U.S. Food and Drug Administration, USA)
"Effects of Codon Optimization on Protein Translation and Structure: Implications for Protein Therapeutics"
8:30 pm - 8:35 pm
Discussion
8:35 pm - 8:45 pm
Jingqi Chen (University of California, Berkeley, USA)
"SVint, a Light-Weight Tool for Annotating Structure Variants Located Outside the Coding Genome"
8:45 pm - 8:50 pm
Discussion
8:50 pm - 9:20 pm
Anna Panchenko (National Center for Biotechnology Information, NIH, USA)
"Understanding Cancer Heterogeneity: From DNA Mutability to Protein Dysfunction"
9:20 pm - 9:30 pm
Discussion
Wednesday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
New Directions: Ribosome Profiling, Microbiomes, Single Cell Technologies
Discussion Leader: Michael Beer (Johns Hopkins University, USA)
9:00 am - 9:10 am
Introduction by Discussion Leader
9:10 am - 9:40 am
Andrew Clark (Cornell University, USA)
"Human Host Genetic Variation and Its Impact on the Gut Microbiome"
9:40 am - 9:50 am
Discussion
9:50 am - 10:20 am
Nicholas Ingolia (University of California, Berkeley, USA)
"Genome-Wide Profiling of Protein Synthesis and Translational Control"
10:20 am - 10:30 am
Discussion
10:30 am - 10:55 am
Coffee Break
10:55 am - 11:25 am
Smita Krishnaswamy (Yale University, USA)
"Diffusion and Deep Learning Representations for Revealing Structure, Progressions and Regulatory Networks in Noisy Single Cell Data"
11:25 am - 11:35 am
Discussion
11:35 am - 12:05 pm
Cynthia Sears (Johns Hopkins University School of Medicine, USA)
"Colon Cancer and the Microbiome: What Is the Person to Person Variability?"
12:05 pm - 12:15 pm
Discussion
12:15 pm - 12:25 pm
Violeta Beleva Guthrie (Johns Hopkins University, USA)
"Single-Cell Sequencing Analysis of Pancreatic Cancer Precursor Lesions Reveals Parallel Evolution in Early Driver Mutations"
12:25 pm - 12:30 pm
Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:00 pm - 7:30 pm
Business Meeting
Nominations for the Next Vice Chair; Fill in Conference Evaluation Forms; Discuss Future Site and Scheduling Preferences; Election of the Next Vice Chair
7:30 pm - 9:30 pm
Integrating Genomic Variation with Medical Records
Discussion Leader: Brian Shirts (University of Washington, USA)
7:30 pm - 7:40 pm
Introduction by Discussion Leader
7:40 pm - 8:10 pm
Elmer Bernstam (The University of Texas Health Science Center at Houston, USA)
"Informatics Support for Precision Medicine"
8:10 pm - 8:20 pm
Discussion
8:20 pm - 8:30 pm
Deanne Taylor (The Children's Hospital of Philadelphia / University of Pennsylvania, USA)
"Gabriella Miller Kids First Data Resource Center: Advancing Genetic Research in Developmental Pathways of Structural Birth Defects and Childhood Cancers"
8:30 pm - 8:35 pm
Discussion
8:35 pm - 8:45 pm
Timothy Bergquist (University of Washington, USA)
"The FindMyVariant Patient Portal, Enabling Patient Driven Research for Genomic Data Collection"
8:45 pm - 8:50 pm
Discussion
8:50 pm - 9:20 pm
Funda Meric-Bernstam (University of Texas MD Anderson Cancer Center, USA)
"Decision Support for Genomically Informed Therapy"
9:20 pm - 9:30 pm
Discussion
Thursday
7:30 am - 8:30 am
Breakfast
9:00 am - 12:30 pm
Genetic Variation in Cancer
Discussion Leader: Mark Sausen (Personal Genome Diagnostics, USA)
9:00 am - 9:10 am
Introduction by Discussion Leader
9:10 am - 9:40 am
Hannah Carter (University of California, San Diego, USA)
"Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer"
9:40 am - 9:50 am
Discussion
9:50 am - 10:20 am
Marcella Devoto (The Children's Hospital of Philadelphia, USA)
"Genetic Susceptibility to Neuroblastoma in African-Americans"
10:20 am - 10:30 am
Discussion
10:30 am - 10:55 am
Coffee Break
10:55 am - 11:25 am
Robert Scharpf (Johns Hopkins University School of Medicine, USA)
"Developing a Pharmacogenomic Platform for Ovarian Cancer"
11:25 am - 11:35 am
Discussion
11:35 am - 11:45 am
Sahar Alkhairy (Broad Institute of MIT and Harvard, USA)
"Next-Generation Tumor Models Increase the Diversity of Cancer Cell Model Collection"
11:45 am - 11:50 am
Discussion
11:50 am - 12:20 pm
Ben Raphael (Princeton University, USA)
"Network Analysis of Cancer Genomes"
12:20 pm - 12:30 pm
Discussion
12:30 pm - 1:30 pm
Lunch
1:30 pm - 4:00 pm
Free Time
4:00 pm - 6:00 pm
Poster Session
6:00 pm - 7:00 pm
Dinner
7:30 pm - 9:30 pm
Common Variation and Disease
Discussion Leader: Michael Hicks (Human Longevity Inc., USA)
7:30 pm - 7:40 pm
Introduction by Discussion Leader
7:40 pm - 8:10 pm
Minoli Perera (Northwestern University, USA)
"Panning for Pharmacogenomic Insight and Biological Relevance in the African Americans Genome"
8:10 pm - 8:20 pm
Discussion
8:20 pm - 8:30 pm
William Balch (The Scripps Research Institute, USA)
"Deconvolution of Genomic Disease Through Variation Landscapes"
8:30 pm - 8:35 pm
Discussion
8:35 pm - 8:45 pm
Hongzhu Cui (Worcester Polytechnic Institute, USA)
"Genome-Wide Prediction of SNV's Effect on Protein-Protein Interaction by Leveraging Privileged Structural Information"
8:45 pm - 8:50 pm
Discussion
8:50 pm - 9:20 pm
Francesco Cucca (Institute for Genetic and Biomedical Research (IRGB), National Research Council (CNR), Italy)
"Genetic Analysis of Multifactorial Traits in the Sardinian Founder Population"
9:20 pm - 9:30 pm
Discussion
Friday
7:30 am - 8:30 am
Breakfast
9:00 am
Departure