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This meeting took place in 2016



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Understanding the Function of Human Genome Variation (K1)


Organizer(s) Kerstin Lindblad-Toh and Xavier Estivill
May 31—June 4, 2016
Uppsala Konsert & Kongress • Uppsala, Sweden
Discounted Abstract Deadline: Feb 1, 2016
Abstract Deadline: Mar 15, 2016
Scholarship Deadline: Feb 1, 2016
Discounted Registration Deadline: Mar 31, 2016

Organized in collaboration with Knut and Alice Wallenberg Foundation and Science for Life Laboratory

Summary of Meeting:
One of the most complex problems in medical and evolutionary genomics is interpreting the function of the millions of variants the genome contains, most being rare and private to each individual or with consequences constrained to specific cells or tissues. The functional consequences of variation in coding regions are well established, but the majority of genetic variation resides in the noncoding portion of the human genome. In fact, more than 85% of genome-wide association signals fall outside coding regions, suggesting a large contribution from variants not well understood both to complex disease and to variation selected for different types of adaptation. The goal of this meeting is to bring together experts who may address important questions such as the function of noncoding variation, the connection between selection and disease, the diverse action of variants in different physiological and pathological scenarios, who develop and apply novel tools to connect genotype and phenotype both in disease and in an evolutionary context. By combining the diverse knowledge of many aspects of genomic analysis, we hope to bring out critical discussion and novel approaches to understanding human genome variation of crucial importance for the individualized genome analysis that precision medicine proposes. We are now entering the age of precision medicine with the capacity to analyze the genome of every subject, evaluating the functional consequences of variability and its interaction with the environment at different time-points in life. This is a new scenario for human biology and genetics in which fields need the convergence of different communities of scientists to address human complex disease, genome biology and evolutionary genomics in the context of a broader discussion on genome function. Our goal here is to bring together a very cross-disciplinary set of speakers who can address all aspects of genome variability and function, and thus to open everyone's eyes to the interplay between selection and disease, as well as the likely importance of pleiotropic consequences of genetic variability based on genome function and evolution.

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No registration fees are used to fund entertainment or alcohol at this conference

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


The meeting will begin on Tuesday, May 31 with registration from 16:00 to 20:00 and a welcome mixer from 18:00 to 20:00. Conference events conclude on Saturday, June 4 with a closing plenary session from 17:00 to 19:00, followed by a social hour and entertainment. We recommend return travel on Sunday, June 5 in order to fully experience the meeting.

TUESDAY, MAY 31

16:00—20:00
Arrival and Registration

Foyer Level 3
18:00—20:00
Welcome Mixer
No registration fees are used to fund alcohol served at this function.

Foyer Level 3

WEDNESDAY, JUNE 1

07:30—08:30
Breakfast

Individual Hotels
08:30—09:30
Welcome and Keynote Address
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Xavier Estivill, Center for Genomic Regulation and University Pompeu Fabra, Spain

Peter M. Visscher, University of Queensland, Australia
Estimation, Dissection and Understanding Human Genomic Variation for Complex Traits

09:30—12:00
Pleiotropy and Epistasis of Variants Involved in Disease
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Joseph K. Pickrell, New York Genome Center, USA

Len Pennacchio, Lawrence Berkeley National Laboratory, USA
Assessing Distant-Acting Enhancers in vivo

Michael Snyder, Stanford University School of Medicine, USA
Longitudinal Personal Genome Analysis

Dana C. Crawford, Case Western Reserve University, USA
Phenome-Wide Association Studies

Alexandra E. Fish, Vanderbilt University, USA
Short Talk: Statistical Associations Suggest an Absence of Biological Epistasis in Human Gene Regulation

Laura Kasak, University of Tartu, Estonia
Short Talk: Somatic CNVs in the Placental Genome and Link to Pregnancy Success

10:10—10:30
Coffee Break

Foyer Level 3
12:00—17:00
On Own for Lunch

12:00—13:00
Poster Setup

Sal C/Foyer Level 3
13:00—22:00
Poster Viewing

Sal C/Foyer Level 3
16:30—17:00
Coffee Available

Foyer Level 3
17:00—19:15
Finding the Causative Variant(s)
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Gill Bejerano, Stanford University, USA

Xavier Estivill, Center for Genomic Regulation and University Pompeu Fabra, Spain
Deconstructing Obsessive-Compulsive Disorder by Whole Exome Sequencing and Rare Variant Association Study

Heidi Rehm, Harvard Medical School, USA
Community Resources to Support Variant Interpretation

Nuria Lopez-Bigas, University Pompeu Fabra - UPF, Spain
Tumor Genomes Shed Light into Mutational Processes and Cancer Vulnerabilities

Fiona Allum, McGill University, Canada
Short Talk: Epigenome-Wide Association Studies of Blood Lipids Identify Tissue-Independent Disease Biomarkers

Seulkee Lee, KAIST, South Korea
Short Talk: Allele Imbalance Analysis Combined with Chromatin Interaction Data Predicts Functional Autoimmune Risk Loci

19:15—20:15
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Sal C/Foyer Level 3
19:30—22:00
Poster Session 1

Sal C/Foyer Level 3

THURSDAY, JUNE 2

07:30—08:30
Breakfast

Individual Hotels
08:30—11:45
Connection between Selection and Disease
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Tuuli Lappalainen, New York Genome Center & Columbia University, USA

Elinor Karlsson, University of Massachusetts Medical School, USA
Natural Selection and Cholera Resistance in Bangladesh

Joseph K. Pickrell, New York Genome Center, USA
Case-Control Association Mapping without Cases

Jessica Alfoldi, Broad Institute of MIT and Harvard, USA
Using Mammalian Conservation to Annotate Each Individual Base of the Human Genome – the 200 Mammals Project

Barak Alon Cohen, Washington University School of Medicine, USA
Analysis of Combinatorial cis-regulation

Ryan N. Doan, Boston Children's Hospital, USA
Short Talk: Mutations in Human Accelerated Regions (HARs) are Associated with Abnormal Social and Cognitive Behavior

Kang Seon Lee, KAIST, South Korea
Short Talk: Evolutionary Acceleration in the Regulatory Sequences of Human Brain Development

09:50—10:10
Coffee Break

Foyer Level 3
11:45—17:00
On Own for Lunch

11:45—13:00
Poster Setup

Sal C/Foyer Level 3
13:00—22:00
Poster Viewing

Sal C/Foyer Level 3
16:30—17:00
Coffee Available

Foyer Level 3
17:00—19:00
Defining the Functional Elements in the Human Genome
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Cynthia M. Beall, Case Western Reserve University, USA

Gill Bejerano, Stanford University, USA
Finding 'Bugs' in the Human Genome Code

Daniel Zerbino, European Molecular Biology Laboratory, UK
Functional Annotation of Genomes at Ensembl

William J. Greenleaf, Stanford University, USA
ATAC-Seq - Chromatin Accessibility at the Single Cell Level

Kaur Alasoo, Wellcome Trust Sanger Institute, UK
Short Talk: Fine-Mapping Condition-Specific Regulatory Variants in Human Macrophages using ATAC-seq

19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Sal C/Foyer Level 3
19:30—22:00
Poster Session 2

Sal C/Foyer Level 3

FRIDAY, JUNE 3

07:30—08:30
Breakfast

Individual Hotels
08:30—11:45
Human History, Migration and Evolution
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Tomas Marques-Bonet, Universitat Pompeu Fabra/CSIC, Spain

Leif Andersson, Uppsala University, Sweden
The Genetics of Ruff Sex

Svante Pääbo, Max Planck Institute for Evolutionary Anthropology, Germany
Functional Genomics of Ancient Hominids

Jada BennTorres, University of Notre Dame, USA
Genomic Perspectives on Indigenous Caribbean Histories in the Lesser Antilles

Mattias Jakobsson, Uppsala University, Sweden
The Genomic Footprints of Neolithic Europeans

Stephane Peyregne, Max Planck Institute for Evolutionary Anthropology, Germany
Short Talk: Detecting Ancient Positive Selection in the Human Genome from Extended Lineage Sorting

Martin Bodner, Medical University of Innsbruck, Austria
Short Talk: Complete Mitogenomes of Ancient Human Bones from the Northeastern Andes in South America

09:50—10:10
Coffee Break

Foyer Level 3
11:45—17:00
On Own for Lunch

11:45—13:00
Poster Setup

Sal C/Foyer Level 3
13:00—22:00
Poster Viewing

Sal C/Foyer Level 3
12:15—16:30
Complimentary Optional Visit to SciLifeLab with Lunch, Guided Tour and Short Talks. Advanced registration is needed. Click link below for registration and information.

SciLifeLab
16:30—17:00
Coffee Available

Foyer Level 3
17:00—19:00
Selection and Population Genetics
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Cisca Wijmenga, University Medical Center Groningen, Netherlands

Tuuli Lappalainen, New York Genome Center & Columbia University, USA
Functional Variation in the Human Genome: Lessons from the Transcriptome

Cynthia M. Beall, Case Western Reserve University, USA
Hemoglobin Concentration and Reproductive Success of Tibetan Highlanders

Luis Quintana-Murci, Institut Pasteur, CNRS URA3012, France
Genetic and Evolutionary Determinants of Population Variation in Immune Responses

Corinne N. Simonti, Vanderbilt University, USA
Short Talk: High-Throughput Characterization of Phenotypic Effects of Recent Positive Selection and Archaic Introgression using Electronic Health Records Connected to Genotypes

19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Sal C/Foyer Level 3
19:30—22:00
Poster Session 3

Sal C/Foyer Level 3

SATURDAY, JUNE 4

07:30—08:30
Breakfast

Individual Hotels
08:30—11:30
Complex Disease and Genetic Variation
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Peter M. Visscher, University of Queensland, Australia

Cisca Wijmenga, University Medical Center Groningen, Netherlands
The Genetic Architecture of Cytokine Responses and their Association with Complex Diseases

Hyun Ji Noh, Broad Institute, USA
Short Talk: Shared Genetics of Compulsive Disorder in Dogs and Humans

Iiris Hovatta, University of Helsinki, Finland
Modeling Genetic Variation and Anxiety in Mice

Nicole Soranzo, Wellcome Trust Sanger Institute, UK
Genetic and Epigenetic Variation in Population Based Cohorts Informs Cardiometabolic and Immune Disease Risk

Ramy Arnaout, Beth Israel Deaconess Medical Center, Harvard Medical School, USA
Short Talk: Counting Missing Mutations: Estimating Cancer Diversity in the Overall Population from 10,000 Cancer Exomes

Linda Marie Boettger, Broad Institute, USA
Short Talk: Recurring Exon Deletions in the Haptoglobin (HP) Gene Associate with Lower Blood Cholesterol Levels

09:50—10:10
Coffee Break

Foyer Level 3
11:30—17:00
On Own for Lunch

16:30—17:00
Coffee Available

Foyer Level 3
17:00—18:45
Structural Variation
Meeting has ended...abstracts no longer viewable online. Purchase an Abstract Book from this meeting

Sal B
* Jessica Alfoldi, Broad Institute of MIT and Harvard, USA

Evan E. Eichler, HHMI/University of Washington, USA
Duplications, Disease and the Evolution of the Human Genome

Tomas Marques-Bonet, Universitat Pompeu Fabra/CSIC, Spain
Upgrade on the Chimpanzee Reference Genome and Evolutionary Comparison of Tandem Repeat Variation

Jonathan Sebat, University of California, San Diego, USA
CNVs in Neuropsychiatric Disease

18:45—19:00
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)

Sal B
19:00—20:00
Social Hour with Lite Bites
No registration fees are used to fund alcohol served at this function.

Sal D
20:00—23:00
Entertainment
Entertainment is not subsidized by conference registration fees nor any U.S. federal government grants. Funding for this expense is provided by other revenue sources.

Sal D

SUNDAY, JUNE 5

 
Departure


*Session Chair †Invited, not yet responded.



Keystone Symposia thanks our Sponsors for generously supporting this meeting:

Knut and Alice Wallenberg Foundation Science for Life Laboratory

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 appreciate the organizations that provide Keystone Symposia with additional support, such as marketing and advertising:


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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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If your organization is interested in joining these entities in support of Keystone Symposia, please contact: Sarah Lavicka, Assistant Director of Development, Email: sarahl@keystonesymposia.org,
Phone:+1 970-262-2690

Click here for more information on Industry Support and Recognition Opportunities.

If you are interested in becoming an advertising/marketing in-kind partner, please contact:
Yvonne Psaila, Director, Marketing and Communications, Email: yvonnep@keystonesymposia.org,
Phone:+1 970-262-2676