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This meeting took place in 2011



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Functional Consequences of Structural Variation in the Genome (A1)


Organizer(s) Evan E. Eichler and Matthew Hurles
January 8—13, 2011
Sheraton Steamboat Resort • Steamboat Springs, Colorado USA
Abstract Deadline: Sep 14, 2010
Late Abstract Deadline: Oct 11, 2010
Scholarship Deadline: Sep 14, 2010
Early Registration Deadline: Nov 8, 2010

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.

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Conference Program    Print  |   View meeting in 12 hr (am/pm) time


SATURDAY, JANUARY 8

15:00—19:30
Registration

Foyer
18:15—19:15
Refreshments

Foyer
19:15—20:30
Welcome and Keynote Address
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* Evan E. Eichler, HHMI/University of Washington, USA

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


SUNDAY, JANUARY 9

07:00—08:00
Breakfast

Foyer
08:00—11:00
Rare Variants and Neurocognitive Disease
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* Matthew Hurles, Wellcome Trust Sanger Institute, UK

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

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

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

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

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

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)

09:20—09:40
Coffee Break

Foyer
11:00—13:00
Poster Setup

Sunshine
13:00—22:00
Poster Viewing

Sunshine
 
On Own for Lunch and Recreation

16:30—17:00
Coffee Available

Foyer
17:00—19:00
CNVs and the Clinical Perspective
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* James R. Lupski, Baylor College of Medicine, USA

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

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

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

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

19:00—20:00
Social Hour with Lite Bites

Sunshine
19:30—22:00
Poster Session 1

Sunshine

MONDAY, JANUARY 10

07:00—08:00
Breakfast

Foyer
08:00—11:00
Common Variants and Human Disease
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* Evan E. Eichler, HHMI/University of Washington, USA

Matthew Hurles, Wellcome Trust Sanger Institute, UK
WTCCC and CNVs

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

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

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

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

09:20—09:40
Coffee Break

Foyer
13:00—22:00
Poster Viewing

Sunshine
 
On Own for Lunch and Recreation

16:30—17:00
Coffee Available

Foyer
17:00—19:00
Discovery and Mechanisms
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* Elaine Mardis, Nationwide Children’s Hospital, Ohio State University, USA

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

Can Alkan, University of Washington, USA
Next-Generation Sequence Characterization of Complex Genome Structural Variation

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

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

19:00—20:00
Social Hour with Lite Bites

Sunshine
19:30—22:00
Poster Viewing

Sunshine

TUESDAY, JANUARY 11

07:00—08:00
Breakfast

Foyer
08:00—11:15
Model Organisms and Structural Variation
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* Steven A. McCarroll, Harvard Medical School, USA

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

Leif Andersson, Uppsala University, Sweden
Structural Variation Underlying Phenotypic Diversity in Domestic Animals

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

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

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

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

09:20—09:40
Coffee Break

Foyer
 
On Own for Lunch and Recreation

16:30—17:00
Coffee Available

Foyer
17:00—19:00
Somatic Structural Variation
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
Jan Dumanski, Uppsala University, Sweden
How Common is Somatic Mosaicism for DNA Copy Number Variations?

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

Elaine Mardis, Nationwide Children’s Hospital, Ohio State University, USA
NGS Detection of Structural Variations in Cancer Genomes

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

19:00—20:00
Social Hour with Lite Bites

Sunshine

WEDNESDAY, JANUARY 12

07:00—08:00
Breakfast

Foyer
08:00—11:00
Adaptation
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* Leif Andersson, Uppsala University, Sweden

Charles Lee, Brigham and Women's Hospital, USA
Amylase CNP and Adaptation

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

Dan Gudbjartsson, deCode Genetics, Iceland
Structural Variations and Adaptation

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

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

09:20—09:40
Coffee Break

Foyer
 
On Own for Lunch and Recreation

16:30—17:00
Coffee Available

Foyer
17:00—19:00
Evolution and Population Genetics
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
* Charles Lee, Brigham and Women's Hospital, USA

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

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

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

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

19:00—19:15
Closing Remarks
Meeting has ended...abstracts no longer viewable online.

Storm Peak/Mt. Werner
Matthew Hurles, Wellcome Trust Sanger Institute, UK

19:15—20:15
Social Hour with Lite Bites

Sunshine
20:00—23:00
Entertainment

Sunshine

THURSDAY, JANUARY 13

 
Departure


*Session Chair †Invited, not yet responded.



We gratefully acknowledge support for this conference from:


Directors' Fund


These generous unrestricted gifts allow our Directors to schedule meetings in a wide variety of important areas, many of which are in the early stages of research.

Click here to view all of the donors who support the Directors' Fund.



We gratefully acknowledge the generous grant for this conference provided by:


National Institutes of Health
National Institute of Mental Health (NIMH)

Grant No. 1R13HG005940-01




We gratefully acknowledge additional support for this conference from:

Agilent Technologies Integrated DNA Technologies

We gratefully acknowledge additional in-kind support for this conference from those foregoing speaker expense reimbursements:



Signature Genomics, a PerkinElmer company


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Special thanks to the following for their support of Keystone Symposia initiatives to increase participation at this meeting by scientists from underrepresented backgrounds:


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Phone:+1 970-262-2690

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