Web Desc
Understanding the Function of Human Genome Variation
Organizer(s): Kerstin Lindblad-Toh and Xavier Estivill
Date: May 31 - June 04, 2016
Location: Uppsala Konsert & Kongress, Uppsala, Sweden
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.
Scholarship Deadline: February 1 2016
Discounted Abstract Deadline: February 1 2016
Abstract Deadline: March 15 2016
Discounted Registration Deadline: March 31 2016
Keystone Symposia thanks our Sponsor(s) for generously supporting this meeting:
Knut and Alice Wallenberg FoundationScience for Life Laboratory
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:

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Program

Tuesday, May 31 | 4:00PM - 8:00PM
Arrival and Registration
Room: Foyer Level 3


Tuesday, May 31 | 6:00PM - 8:00PM
Welcome Mixer
Room: Foyer Level 3
No registration fees are used to fund alcohol served at this function.

Wednesday, June 01 | 7:30AM - 8:30AM
Breakfast
Room: Individual Hotels


Wednesday, June 01 | 8:30AM - 9:30AM
Welcome and Keynote Address
Room: Sal B

Speaker 1 of 2
* Xavier Estivill, Sidra Medical and Research Center, Qatar

Wednesday, June 01 | 8:30AM - 9:30AM
Welcome and Keynote Address
Room: Sal B

Speaker 2 of 2
Peter M. Visscher, University of Queensland, Australia
Estimation, Dissection and Understanding Human Genomic Variation for Complex Traits

Wednesday, June 01 | 9:30AM - 12:00PM
Pleiotropy and Epistasis of Variants Involved in Disease
Room: Sal B

Speaker 1 of 6
* Joseph K. Pickrell, New York Genome Center, USA

Wednesday, June 01 | 9:30AM - 12:00PM
Pleiotropy and Epistasis of Variants Involved in Disease
Room: Sal B

Speaker 2 of 6
Len Pennacchio, Lawrence Berkeley National Laboratory, USA
Assessing Distant-Acting Enhancers in vivo


Wednesday, June 01 | 9:30AM - 12:00PM
Pleiotropy and Epistasis of Variants Involved in Disease
Room: Sal B

Speaker 3 of 6
Michael P. Snyder, Stanford University School of Medicine, USA
Longitudinal Personal Genome Analysis

Wednesday, June 01 | 9:30AM - 12:00PM
Pleiotropy and Epistasis of Variants Involved in Disease
Room: Sal B

Speaker 4 of 6
Dana C. Crawford, Case Western Reserve University, USA
Phenome-Wide Association Studies

Wednesday, June 01 | 9:30AM - 12:00PM
Pleiotropy and Epistasis of Variants Involved in Disease
Room: Sal B

Speaker 5 of 6
Alexandra E. Fish, Vanderbilt University, USA
Short Talk: Statistical Associations Suggest an Absence of Biological Epistasis in Human Gene Regulation

Wednesday, June 01 | 9:30AM - 12:00PM
Pleiotropy and Epistasis of Variants Involved in Disease
Room: Sal B

Speaker 6 of 6
Laura Kasak, University of Tartu, Estonia
Short Talk: Somatic CNVs in the Placental Genome and Link to Pregnancy Success

Wednesday, June 01 | 10:10AM - 10:30AM
Coffee Break
Room: Foyer Level 3


Wednesday, June 01 | 12:00PM - 5:00PM
On Own for Lunch


Wednesday, June 01 | 12:00PM - 1:00PM
Poster Setup
Room: Sal C/Foyer Level 3


Wednesday, June 01 | 1:00PM - 10:00PM
Poster Viewing
Room: Sal C/Foyer Level 3


Wednesday, June 01 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer Level 3


Wednesday, June 01 | 5:00PM - 7:15PM
Finding the Causative Variant(s)
Room: Sal B

Speaker 1 of 6
* Gill Bejerano, Stanford University, USA

Wednesday, June 01 | 5:00PM - 7:15PM
Finding the Causative Variant(s)
Room: Sal B

Speaker 2 of 6
Xavier Estivill, Sidra Medical and Research Center, Qatar
Deconstructing Obsessive-Compulsive Disorder by Whole Exome Sequencing and Rare Variant Association Study

Wednesday, June 01 | 5:00PM - 7:15PM
Finding the Causative Variant(s)
Room: Sal B

Speaker 3 of 6
Heidi Rehm, Harvard Medical School, USA
Community Resources to Support Variant Interpretation

Wednesday, June 01 | 5:00PM - 7:15PM
Finding the Causative Variant(s)
Room: Sal B

Speaker 4 of 6
Nuria Lopez-Bigas, University Pompeu Fabra - UPF, Spain
Tumor Genomes Shed Light into Mutational Processes and Cancer Vulnerabilities

Wednesday, June 01 | 5:00PM - 7:15PM
Finding the Causative Variant(s)
Room: Sal B

Speaker 5 of 6
Fiona Allum, McGill University, Canada
Short Talk: Epigenome-Wide Association Studies of Blood Lipids Identify Tissue-Independent Disease Biomarkers

Wednesday, June 01 | 5:00PM - 7:15PM
Finding the Causative Variant(s)
Room: Sal B

Speaker 6 of 6
Seulkee Lee, KAIST, South Korea
Short Talk: Allele Imbalance Analysis Combined with Chromatin Interaction Data Predicts Functional Autoimmune Risk Loci

Wednesday, June 01 | 7:15PM - 8:15PM
Social Hour with Lite Bites
Room: Sal C/Foyer Level 3
No registration fees are used to fund alcohol served at this function.

Wednesday, June 01 | 7:30PM - 10:00PM
Poster Session 1
Room: Sal C/Foyer Level 3


Thursday, June 02 | 7:30AM - 8:30AM
Breakfast
Room: Individual Hotels


Thursday, June 02 | 8:30AM - 11:45AM
Connection between Selection and Disease
Room: Sal B

Speaker 1 of 7
* Tuuli Lappalainen, New York Genome Center & Columbia University, USA

Thursday, June 02 | 8:30AM - 11:45AM
Connection between Selection and Disease
Room: Sal B

Speaker 2 of 7
Elinor Karlsson, University of Massachusetts Medical School, USA
Natural Selection and Cholera Resistance in Bangladesh

Thursday, June 02 | 8:30AM - 11:45AM
Connection between Selection and Disease
Room: Sal B

Speaker 3 of 7
Joseph K. Pickrell, New York Genome Center, USA
Case-Control Association Mapping without Cases

Thursday, June 02 | 8:30AM - 11:45AM
Connection between Selection and Disease
Room: Sal B

Speaker 4 of 7
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

Thursday, June 02 | 8:30AM - 11:45AM
Connection between Selection and Disease
Room: Sal B

Speaker 5 of 7
Barak Alon Cohen, Washington University School of Medicine, USA
Analysis of Combinatorial cis-regulation

Thursday, June 02 | 8:30AM - 11:45AM
Connection between Selection and Disease
Room: Sal B

Speaker 6 of 7
Ryan N. Doan, Boston Children's Hospital, USA
Short Talk: Mutations in Human Accelerated Regions (HARs) are Associated with Abnormal Social and Cognitive Behavior

Thursday, June 02 | 8:30AM - 11:45AM
Connection between Selection and Disease
Room: Sal B

Speaker 7 of 7
Kang Seon Lee, KAIST, South Korea
Short Talk: Evolutionary Acceleration in the Regulatory Sequences of Human Brain Development

Thursday, June 02 | 9:50AM - 10:10AM
Coffee Break
Room: Foyer Level 3


Thursday, June 02 | 11:45AM - 5:00PM
On Own for Lunch


Thursday, June 02 | 11:45AM - 1:00PM
Poster Setup
Room: Sal C/Foyer Level 3


Thursday, June 02 | 1:00PM - 10:00PM
Poster Viewing
Room: Sal C/Foyer Level 3


Thursday, June 02 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer Level 3


Thursday, June 02 | 5:00PM - 7:00PM
Defining the Functional Elements in the Human Genome
Room: Sal B

Speaker 1 of 5
* Cynthia M. Beall, Case Western Reserve University, USA

Thursday, June 02 | 5:00PM - 7:00PM
Defining the Functional Elements in the Human Genome
Room: Sal B

Speaker 2 of 5
Gill Bejerano, Stanford University, USA
Finding 'Bugs' in the Human Genome Code

Thursday, June 02 | 5:00PM - 7:00PM
Defining the Functional Elements in the Human Genome
Room: Sal B

Speaker 3 of 5
Daniel Zerbino, European Molecular Biology Laboratory, UK
Functional Annotation of Genomes at Ensembl

Thursday, June 02 | 5:00PM - 7:00PM
Defining the Functional Elements in the Human Genome
Room: Sal B

Speaker 4 of 5
William J. Greenleaf, Stanford University, USA
ATAC-Seq - Chromatin Accessibility at the Single Cell Level

Thursday, June 02 | 5:00PM - 7:00PM
Defining the Functional Elements in the Human Genome
Room: Sal B

Speaker 5 of 5
Kaur Alasoo, Wellcome Trust Sanger Institute, UK
Short Talk: Fine-Mapping Condition-Specific Regulatory Variants in Human Macrophages using ATAC-seq

Thursday, June 02 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Sal C/Foyer Level 3
No registration fees are used to fund alcohol served at this function.

Thursday, June 02 | 7:30PM - 10:00PM
Poster Session 2
Room: Sal C/Foyer Level 3


Friday, June 03 | 7:30AM - 8:30AM
Breakfast
Room: Individual Hotels


Friday, June 03 | 8:30AM - 11:45AM
Human History, Migration and Evolution
Room: Sal B

Speaker 1 of 7
* Tomas Marques-Bonet, Universitat Pompeu Fabra/CSIC, Spain

Friday, June 03 | 8:30AM - 11:45AM
Human History, Migration and Evolution
Room: Sal B

Speaker 2 of 7
Leif Andersson, Uppsala University, Sweden
The Genetics of Ruff Sex

Friday, June 03 | 8:30AM - 11:45AM
Human History, Migration and Evolution
Room: Sal B

Speaker 3 of 7
Svante Pääbo, Max Planck Institute for Evolutionary Anthropology, Germany
Functional Genomics of Ancient Hominids

Friday, June 03 | 8:30AM - 11:45AM
Human History, Migration and Evolution
Room: Sal B

Speaker 4 of 7
Jada BennTorres, University of Notre Dame, USA
Genomic Perspectives on Indigenous Caribbean Histories in the Lesser Antilles

Friday, June 03 | 8:30AM - 11:45AM
Human History, Migration and Evolution
Room: Sal B

Speaker 5 of 7
Mattias Jakobsson, Uppsala University, Sweden
The Genomic Footprints of Neolithic Europeans

Friday, June 03 | 8:30AM - 11:45AM
Human History, Migration and Evolution
Room: Sal B

Speaker 6 of 7
Stephane Peyregne, Max Planck Institute for Evolutionary Anthropology, Germany
Short Talk: Detecting Ancient Positive Selection in the Human Genome from Extended Lineage Sorting

Friday, June 03 | 8:30AM - 11:45AM
Human History, Migration and Evolution
Room: Sal B

Speaker 7 of 7
Martin Bodner, Medical University of Innsbruck, Austria
Short Talk: Complete Mitogenomes of Ancient Human Bones from the Northeastern Andes in South America

Friday, June 03 | 9:50AM - 10:10AM
Coffee Break
Room: Foyer Level 3


Friday, June 03 | 11:45AM - 5:00PM
On Own for Lunch


Friday, June 03 | 11:45AM - 1:00PM
Poster Setup
Room: Sal C/Foyer Level 3


Friday, June 03 | 12:15PM - 4:30PM
Complimentary Optional Visit to SciLifeLab with Lunch, Guide
d Tour and Short Talks. Advanced registration is needed. Click link below for registration and information.
Room: SciLifeLab
SciLifeLab Tour Registration
SciLifeLab Tour Information

Friday, June 03 | 1:00PM - 10:00PM
Poster Viewing
Room: Sal C/Foyer Level 3


Friday, June 03 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer Level 3


Friday, June 03 | 5:00PM - 7:00PM
Selection and Population Genetics
Room: Sal B

Speaker 1 of 5
* Cisca Wijmenga, University Medical Center Groningen, Netherlands

Friday, June 03 | 5:00PM - 7:00PM
Selection and Population Genetics
Room: Sal B

Speaker 2 of 5
Tuuli Lappalainen, New York Genome Center & Columbia University, USA
Functional Variation in the Human Genome: Lessons from the Transcriptome

Friday, June 03 | 5:00PM - 7:00PM
Selection and Population Genetics
Room: Sal B

Speaker 3 of 5
Cynthia M. Beall, Case Western Reserve University, USA
Hemoglobin Concentration and Reproductive Success of Tibetan Highlanders

Friday, June 03 | 5:00PM - 7:00PM
Selection and Population Genetics
Room: Sal B

Speaker 4 of 5
Luis Quintana-Murci, Institut Pasteur, CNRS URA3012, France
Genetic and Evolutionary Determinants of Population Variation in Immune Responses

Friday, June 03 | 5:00PM - 7:00PM
Selection and Population Genetics
Room: Sal B

Speaker 5 of 5
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

Friday, June 03 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Sal C/Foyer Level 3
No registration fees are used to fund alcohol served at this function.

Friday, June 03 | 7:30PM - 10:00PM
Poster Session 3
Room: Sal C/Foyer Level 3


Saturday, June 04 | 7:30AM - 8:30AM
Breakfast
Room: Individual Hotels


Saturday, June 04 | 8:30AM - 11:30AM
Complex Disease and Genetic Variation
Room: Sal B

Speaker 1 of 7
* Peter M. Visscher, University of Queensland, Australia

Saturday, June 04 | 8:30AM - 11:30AM
Complex Disease and Genetic Variation
Room: Sal B

Speaker 2 of 7
Cisca Wijmenga, University Medical Center Groningen, Netherlands
The Genetic Architecture of Cytokine Responses and their Association with Complex Diseases

Saturday, June 04 | 8:30AM - 11:30AM
Complex Disease and Genetic Variation
Room: Sal B

Speaker 3 of 7
Hyun Ji Noh, Broad Institute, USA
Short Talk: Shared Genetics of Compulsive Disorder in Dogs and Humans

Saturday, June 04 | 8:30AM - 11:30AM
Complex Disease and Genetic Variation
Room: Sal B

Speaker 4 of 7
Iiris Hovatta, University of Helsinki, Finland
Modeling Genetic Variation and Anxiety in Mice

Saturday, June 04 | 8:30AM - 11:30AM
Complex Disease and Genetic Variation
Room: Sal B

Speaker 5 of 7
Nicole Soranzo, Wellcome Trust Sanger Institute, UK
Genetic and Epigenetic Variation in Population Based Cohorts Informs Cardiometabolic and Immune Disease Risk

Saturday, June 04 | 8:30AM - 11:30AM
Complex Disease and Genetic Variation
Room: Sal B

Speaker 6 of 7
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

Saturday, June 04 | 8:30AM - 11:30AM
Complex Disease and Genetic Variation
Room: Sal B

Speaker 7 of 7
Linda Marie Boettger, Broad Institute, USA
Short Talk: Recurring Exon Deletions in the Haptoglobin (HP) Gene Associate with Lower Blood Cholesterol Levels

Saturday, June 04 | 9:50AM - 10:10AM
Coffee Break
Room: Foyer Level 3


Saturday, June 04 | 11:30AM - 5:00PM
On Own for Lunch


Saturday, June 04 | 4:30PM - 5:00PM
Coffee Available
Room: Foyer Level 3


Saturday, June 04 | 5:00PM - 6:45PM
Structural Variation
Room: Sal B

Speaker 1 of 4
* Jessica Alfoldi, Broad Institute of MIT and Harvard, USA

Saturday, June 04 | 5:00PM - 6:45PM
Structural Variation
Room: Sal B

Speaker 2 of 4
Evan E. Eichler, HHMI/University of Washington, USA
Duplications, Disease and the Evolution of the Human Genome

Saturday, June 04 | 5:00PM - 6:45PM
Structural Variation
Room: Sal B

Speaker 3 of 4
Tomas Marques-Bonet, Universitat Pompeu Fabra/CSIC, Spain
Upgrade on the Chimpanzee Reference Genome and Evolutionary Comparison of Tandem Repeat Variation

Saturday, June 04 | 5:00PM - 6:45PM
Structural Variation
Room: Sal B

Speaker 4 of 4
Jonathan Sebat, University of California, San Diego, USA
CNVs in Neuropsychiatric Disease

Saturday, June 04 | 6:45PM - 7:00PM
Meeting Wrap-Up: Outcomes and Future Directions (Organizers)
Room: Sal B


Saturday, June 04 | 7:00PM - 8:00PM
Social Hour with Lite Bites
Room: Sal D
No registration fees are used to fund alcohol served at this function.

Saturday, June 04 | 8:00PM - 11:00PM
Entertainment
Room: Sal D
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.

Saturday, June 04 | 8:00PM - 11:00PM
Cash Bar
Room: Sal D


Sunday, June 05 | 10:25AM - 10:25AM
Departure


*Session Chair.