Web Desc
Functional Consequences of Structural Variation in the Genome
Organizer(s): Evan E. Eichler and Matthew Hurles
Date: January 08 - 13, 2011
Location: Sheraton Steamboat Resort, Steamboat Springs, CO, USA
Supported by the Directors' Fund
Summary of Meeting:
Sequencing of genomes has led to the discovery of a spectrum of both small-scale and large-scale genetic variation among individuals. Changes in copy-number and genome structural variation are common in most mammalian species and affect a wide range of phenotypic traits. The goal of this symposium will be to explore the relative impact of structural variation to common and rare human genetic diseases; discuss our understanding of ‘normal’ patterns of structural variation and its origin based on examining additional human genomes using new sequencing technologies; explore the extent of intraspecific variation in other organisms and their importance in phenotypic traits; and discuss the adaptive importance of this form of variation during the evolution of mammalian species.
Scholarship Deadline: September 14 2010
Discounted Abstract Deadline: September 14 2010
Abstract Deadline: October 11 2010
Discounted Registration Deadline: November 8 2010
We gratefully acknowledge additional support for this conference from:
Agilent TechnologiesIntegrated DNA Technologies
We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:

Signature Genomics, a PerkinElmer company
We gratefully acknowledge the generous grant for this conference provided by:

National Human Genome Research Institute (NHGRI)
Grant No. 1R13HG005940-01
We appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:

Click here to view more of these organizations
Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:

Click here to view more of these organizations

Program

Saturday, January 08 | 3:00PM - 7:30PM
Registration
Room: Foyer


Saturday, January 08 | 6:15PM - 7:15PM
Refreshments
Room: Foyer


Saturday, January 08 | 7:15PM - 8:30PM
Welcome and Keynote Address
Room: Storm Peak/Mt. Werner

Speaker 1 of 2
* Evan E. Eichler, HHMI/University of Washington, USA

Saturday, January 08 | 7:15PM - 8:30PM
Welcome and Keynote Address
Room: Storm Peak/Mt. Werner

Speaker 2 of 2
James R. Lupski, Baylor College of Medicine, USA
Copy Number Variation and Disease Traits

Sunday, January 09 | 7:00AM - 8:00AM
Breakfast
Room: Foyer


Sunday, January 09 | 8:00AM - 11:00AM
Rare Variants and Neurocognitive Disease
Room: Storm Peak/Mt. Werner

Speaker 1 of 7
* Matthew Hurles, Wellcome Trust Sanger Institute, UK

Sunday, January 09 | 8:00AM - 11:00AM
Rare Variants and Neurocognitive Disease
Room: Storm Peak/Mt. Werner

Speaker 2 of 7
Evan E. Eichler, HHMI/University of Washington, USA
Copy Number Variation and Variability in Neuropsychiatric Disease

Sunday, January 09 | 8:00AM - 11:00AM
Rare Variants and Neurocognitive Disease
Room: Storm Peak/Mt. Werner

Speaker 3 of 7
Jonathan Sebat, University of California, San Diego, USA
Making the Leap from CNVs to Pathways in Schizophrenia and Bipolar Disorder

Sunday, January 09 | 8:00AM - 11:00AM
Rare Variants and Neurocognitive Disease
Room: Storm Peak/Mt. Werner

Speaker 4 of 7
Dalila Pinto, Hospital for Sick Children, Canada
Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorders

Sunday, January 09 | 8:00AM - 11:00AM
Rare Variants and Neurocognitive Disease
Room: Storm Peak/Mt. Werner

Speaker 5 of 7
Michael E. Talkowski, Massachusetts General Hospital, USA
Short Talk: Sequencing Balanced Rearrangements Contributing to Autism and Other Neurodevelopmental Disorders

Sunday, January 09 | 8:00AM - 11:00AM
Rare Variants and Neurocognitive Disease
Room: Storm Peak/Mt. Werner

Speaker 6 of 7
Kristen J. Brennand, The Salk Institute for Biological Studies, USA
Short Talk: Modeling Schizophrenia Using hiPSC-Derived Neurons

Sunday, January 09 | 8:00AM - 11:00AM
Rare Variants and Neurocognitive Disease
Room: Storm Peak/Mt. Werner

Speaker 7 of 7
Tamim H. Shaikh, University of Colorado, Denver, USA
Short Talk: Genetic Pathways and Biological Processes Commonly Disrupted by Copy Number Variations (CNVs) Associated with Intellectual and Developmental Disabilities (IDD)

Sunday, January 09 | 9:20AM - 9:40AM
Coffee Break
Room: Foyer


Sunday, January 09 | 10:00AM - 10:00AM
On Own for Lunch and Recreation


Sunday, January 09 | 11:00AM - 1:00PM
Poster Setup
Room: Sunshine


Sunday, January 09 | 1:00PM - 10:00PM
Poster Viewing
Room: Sunshine


Sunday, January 09 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer


Sunday, January 09 | 5:00PM - 7:00PM
CNVs and the Clinical Perspective
Room: Storm Peak/Mt. Werner

Speaker 1 of 5
* James R. Lupski, Baylor College of Medicine, USA

Sunday, January 09 | 5:00PM - 7:00PM
CNVs and the Clinical Perspective
Room: Storm Peak/Mt. Werner

Speaker 2 of 5
David H. Ledbetter, Geisinger Health, USA
CNV Atlas of Human Development: A database for knowledge generation and improved clinical interpretation in postnatal and prenatal applications

Sunday, January 09 | 5:00PM - 7:00PM
CNVs and the Clinical Perspective
Room: Storm Peak/Mt. Werner

Speaker 3 of 5
Lisa G. Shaffer, Signature Genomic Laboratories, A PerkinElmer Company, USA
A Genotype First Approach to the Identification of New Chromosomal Syndromes

Sunday, January 09 | 5:00PM - 7:00PM
CNVs and the Clinical Perspective
Room: Storm Peak/Mt. Werner

Speaker 4 of 5
Nancy B. Spinner, Children's Hospital of Philadelphia and University of Pennsylvania, USA
SNP Array Diagnostics: Digging Deeper

Sunday, January 09 | 5:00PM - 7:00PM
CNVs and the Clinical Perspective
Room: Storm Peak/Mt. Werner

Speaker 5 of 5
Jayne Y. Hehir-Kwa, University Medical Centre Nijmegen, Netherlands
Short Talk: Significant Paternal Bias Found in MR associated de Novo CNVs

Sunday, January 09 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Sunshine


Sunday, January 09 | 7:30PM - 10:00PM
Poster Session 1
Room: Sunshine


Monday, January 10 | 7:00AM - 8:00AM
Breakfast
Room: Foyer


Monday, January 10 | 8:00AM - 11:00AM
Common Variants and Human Disease
Room: Storm Peak/Mt. Werner

Speaker 1 of 6
* Evan E. Eichler, HHMI/University of Washington, USA

Monday, January 10 | 8:00AM - 11:00AM
Common Variants and Human Disease
Room: Storm Peak/Mt. Werner

Speaker 2 of 6
Matthew Hurles, Wellcome Trust Sanger Institute, UK
WTCCC and CNVs

Monday, January 10 | 8:00AM - 11:00AM
Common Variants and Human Disease
Room: Storm Peak/Mt. Werner

Speaker 3 of 6
Steven A. McCarroll, Harvard Medical School, USA
Crohn's, Compatibility and Complex Traits

Monday, January 10 | 8:00AM - 11:00AM
Common Variants and Human Disease
Room: Storm Peak/Mt. Werner

Speaker 4 of 6
Edward J. Hollox, University of Leicester, UK
Beta-Defensin Copy Number Variation and Disease

Monday, January 10 | 8:00AM - 11:00AM
Common Variants and Human Disease
Room: Storm Peak/Mt. Werner

Speaker 5 of 6
Bernice E. Morrow, Albert Einstein College of Medicine, USA
Common Genetic Modifiers for VCFS/DGS

Monday, January 10 | 8:00AM - 11:00AM
Common Variants and Human Disease
Room: Storm Peak/Mt. Werner

Speaker 6 of 6
James I. Robinson, University of Leeds, UK
Short Talk: Association of FCGR3B, but not FCGR3A Copy Number, with Susceptibility to Autoantibody Positive Rheumatoid Arthritis: Functional Correlation with Reduced Neutrophil FcgammaRIIIb Expression

Monday, January 10 | 9:20AM - 9:40AM
Coffee Break
Room: Foyer


Monday, January 10 | 10:00AM - 10:00AM
On Own for Lunch and Recreation


Monday, January 10 | 1:00PM - 10:00PM
Poster Viewing
Room: Sunshine


Monday, January 10 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer


Monday, January 10 | 5:00PM - 7:00PM
Discovery and Mechanisms
Room: Storm Peak/Mt. Werner

Speaker 1 of 5
* Elaine R. Mardis, Nationwide Children's Hospital, USA

Monday, January 10 | 5:00PM - 7:00PM
Discovery and Mechanisms
Room: Storm Peak/Mt. Werner

Speaker 2 of 5
Ryan E. Mills, Brigham and Women's Hospital, Harvard Medical School, USA
Capturing Structural Variation from Whole Genome Population-Scale Sequencing: Perspectives from the 1000 Genomes Project

Monday, January 10 | 5:00PM - 7:00PM
Discovery and Mechanisms
Room: Storm Peak/Mt. Werner

Speaker 3 of 5
Can Alkan, Bilkent University, Turkey
Next-Generation Sequence Characterization of Complex Genome Structural Variation

Monday, January 10 | 5:00PM - 7:00PM
Discovery and Mechanisms
Room: Storm Peak/Mt. Werner

Speaker 4 of 5
John V. Moran, University of Michigan Medical School, USA
LINE-1 Activity and Variation in Human Genomes

Monday, January 10 | 5:00PM - 7:00PM
Discovery and Mechanisms
Room: Storm Peak/Mt. Werner

Speaker 5 of 5
Martin F. Arlt, University of Michigan, USA
Short Talk: Replication Stress Induces Genome-Wide Copy Number Variants in Human Cells via Non-Homologous Repair Mechanisms

Monday, January 10 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Sunshine


Monday, January 10 | 7:30PM - 10:00PM
Poster Viewing
Room: Sunshine


Tuesday, January 11 | 7:00AM - 8:00AM
Breakfast
Room: Foyer


Tuesday, January 11 | 8:00AM - 11:15AM
Model Organisms and Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 1 of 7
* Steven A. McCarroll, Harvard Medical School, USA

Tuesday, January 11 | 8:00AM - 11:15AM
Model Organisms and Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 2 of 7
David J. Gresham, New York University, USA
Structural Genomic Variation Associated with Massive Fitness Increases in Evolving Microbial Populations

Tuesday, January 11 | 8:00AM - 11:15AM
Model Organisms and Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 3 of 7
Leif Andersson, Uppsala University, Sweden
Structural Variation Underlying Phenotypic Diversity in Domestic Animals

Tuesday, January 11 | 8:00AM - 11:15AM
Model Organisms and Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 4 of 7
Alexandre Reymond, University of Lausanne, Switzerland
Copy Number Variation and Gene Expression

Tuesday, January 11 | 8:00AM - 11:15AM
Model Organisms and Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 5 of 7
Ira M. Hall, University of Virginia, USA
High-Throughput Breakpoint Analysis in Germline and Somatic Genomes

Tuesday, January 11 | 8:00AM - 11:15AM
Model Organisms and Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 6 of 7
Brian Oliver, National Institutes of Health, USA
Short Talk: Systematic Dose Perturbations to Build Predictive Drosophila Genetic Networks

Tuesday, January 11 | 8:00AM - 11:15AM
Model Organisms and Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 7 of 7
Guy Horev, Cold Spring Harbor Laboratory, USA
Short Talk: Deletion of Genes at 16p11.2 Causes Autism-Like Phenotypes in Mice

Tuesday, January 11 | 9:20AM - 9:40AM
Coffee Break
Room: Foyer


Tuesday, January 11 | 10:00AM - 10:00AM
On Own for Lunch and Recreation


Tuesday, January 11 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer


Tuesday, January 11 | 5:00PM - 7:00PM
Somatic Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 1 of 4
Jan Dumanski, Uppsala University, Sweden
How Common is Somatic Mosaicism for DNA Copy Number Variations?

Tuesday, January 11 | 5:00PM - 7:00PM
Somatic Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 2 of 4
* Beverly S. Emanuel, University of Pennsylvania, Children's Hospital of Philadelphia, USA
Palindromes Mediate Germline and Somatic Instability

Tuesday, January 11 | 5:00PM - 7:00PM
Somatic Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 3 of 4
Elaine R. Mardis, Nationwide Children's Hospital, USA
NGS Detection of Structural Variations in Cancer Genomes

Tuesday, January 11 | 5:00PM - 7:00PM
Somatic Structural Variation
Room: Storm Peak/Mt. Werner

Speaker 4 of 4
Aaron R. Quinlan, University of Utah, USA
Short Talk: Large-Scale Characterization of SV Breakpoints in Cancer

Tuesday, January 11 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Sunshine


Wednesday, January 12 | 7:00AM - 8:00AM
Breakfast
Room: Foyer


Wednesday, January 12 | 8:00AM - 11:00AM
Adaptation
Room: Storm Peak/Mt. Werner

Speaker 1 of 6
* Leif Andersson, Uppsala University, Sweden

Wednesday, January 12 | 8:00AM - 11:00AM
Adaptation
Room: Storm Peak/Mt. Werner

Speaker 2 of 6
Charles Lee, Brigham and Women's Hospital, USA
Amylase CNP and Adaptation

Wednesday, January 12 | 8:00AM - 11:00AM
Adaptation
Room: Storm Peak/Mt. Werner

Speaker 3 of 6
James W. Thomas, Emory University School of Medicine, USA
Genomic Characterization of a Chromosomal Polymorphism Linked to Variation in Social Behavior

Wednesday, January 12 | 8:00AM - 11:00AM
Adaptation
Room: Storm Peak/Mt. Werner

Speaker 4 of 6
Dan Gudbjartsson, deCode Genetics, Iceland
Structural Variations and Adaptation

Wednesday, January 12 | 8:00AM - 11:00AM
Adaptation
Room: Storm Peak/Mt. Werner

Speaker 5 of 6
Doron Lancet, Weizmann Institute of Science, Israel
Olfactory Genomic Variation: From Stop-SNPs and Deletion CNVs to Phenotypic Diversity

Wednesday, January 12 | 8:00AM - 11:00AM
Adaptation
Room: Storm Peak/Mt. Werner

Speaker 6 of 6
Daniel R. Schrider, Indiana University, USA
Short Talk: Detection and Analysis of Gene Copy Number Polymorphism Caused by Retrotransposition in Humans and Drosophila Melanogaster

Wednesday, January 12 | 9:20AM - 9:40AM
Coffee Break
Room: Foyer


Wednesday, January 12 | 10:00AM - 10:00AM
On Own for Lunch and Recreation


Wednesday, January 12 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer


Wednesday, January 12 | 5:00PM - 7:00PM
Evolution and Population Genetics
Room: Storm Peak/Mt. Werner

Speaker 1 of 5
* Charles Lee, Brigham and Women's Hospital, USA

Wednesday, January 12 | 5:00PM - 7:00PM
Evolution and Population Genetics
Room: Storm Peak/Mt. Werner

Speaker 2 of 5
James M. Sikela, University of Colorado Health Sciences Center, USA
DUF1220 Domain Duplications, Disease and Evolution

Wednesday, January 12 | 5:00PM - 7:00PM
Evolution and Population Genetics
Room: Storm Peak/Mt. Werner

Speaker 3 of 5
Chris Tyler-Smith, Wellcome Trust Sanger Institute, UK
Loss-of-Function Variants in the Human Population

Wednesday, January 12 | 5:00PM - 7:00PM
Evolution and Population Genetics
Room: Storm Peak/Mt. Werner

Speaker 4 of 5
Don Conrad, Washington University School of Medicine, USA
Population Genetics of Structural Variation and Gene Expression

Wednesday, January 12 | 5:00PM - 7:00PM
Evolution and Population Genetics
Room: Storm Peak/Mt. Werner

Speaker 5 of 5
Jacob Kitzman, University of MIchigan, USA
Short Talk: Diversity in Copy and Expression of Human Duplicated Genes

Wednesday, January 12 | 7:00PM - 7:15PM
Closing Remarks
Room: Storm Peak/Mt. Werner

Speaker 1 of 1
Matthew Hurles, Wellcome Trust Sanger Institute, UK

Wednesday, January 12 | 7:15PM - 8:15PM
Social Hour with Lite Bites
Room: Sunshine


Wednesday, January 12 | 8:00PM - 11:00PM
Entertainment
Room: Sunshine


Wednesday, January 12 | 8:00PM - 11:00PM
Cash Bar
Room: Sunshine


Thursday, January 13 | 10:25AM - 10:25AM
Departure


*Session Chair.