Past Meeting | Keystone Symposia

This meeting took place in the past. Here is a list of meetings that are related:
Understanding the Function of Human Genome Variation (2016K1)

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: 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

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:

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.