Human Variation: Cause and Consequence

EMBL Advanced Training Centre, Heidelberg, Germany

Sunday 20 June - Wednesday 23 June 2010

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Programme

Day One: Sunday 20 June 2010

14:00 - 17:20 Arrival & Registration
17:20 - 17:30 Welcome
17:30 - 18:30 Leena Peltonen Memorial Session
18:30 - 19:30 Keynote speaker - Kári Stefánsson, deCODE genetics, Iceland - The genetics of common/complex traits and the juxtaposition of nature and nurture
19:30 - 21:00 Dinner

Day Two: Monday 21 June 2010

09:00 - 13:25 Mechanism of Mutation
09:00 - 09:25 Peter Arndt, MPI for Molecular Genetics, Germany - Mutagenic Processes and their Association with Transcription and Disease
09:25 - 09:50 Kateryna Makova, PennState University, USA - Studying Mutations in the Age of Statistical Genomics
09:50 - 10:15 Adam Eyre-Walker, University of Sussex, UK - New insights into the process of mutation from DNA sequence analysis
10:15 - 10:40 Gil McVean, University of Oxford, UK - Properties, consequences and evolution of human recombination hotspots
10:40 - 10:55 Michael Wilson, Cambridge Research Unit, UK - Five vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding
10:55 - 11:10 Francois Spitz, EMBL, Germany - Functional in vivo analysis and reshuffling of the genome regulatory architecture
11:10 - 11:40 Coffee break
11:40 - 12:05 Laurent Duret, University of Lyon, France - The impact of recombination on human genome evolution
12:05 - 12:30 Evan Eichler, University of Washington, USA - Human Genome Structural Variation: Genetic Diversity and Disease
12:30 - 12:55 Andrew Wilkie, The Weatherall Institute of Molecular Medicine - Selfish mutations in spermatogenesis and paternal age effects
12:55 - 13:10 Guenola Ricard, University of Lausanne  - Long-range expression consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models
13:10 - 13:25 Jonathan Mudge, Wellcome Trust Sanger Institute, UK - The rapid pace of evolution in genome annotation
13:25 - 14:30 Lunch
14:30 - 18:05 Population Genetics
14:30 - 14:55 Richard Durbin, Wellcome Trust Sanger Institute, UK - Results and lessons from the 1000 Genomes Project
14:55 - 15:20 Gonçalo Abecasis, University of Michigan, USA - The Future of Genetic Association Studies: Sequencing Thousands of Human Genomes
15:20 - 15:35 Tsviya Olender, Weizman Institute of Science, Israel -  A complete compendium of deleterious genetic variations affecting smell sensitivity
15:35 - 15:50 Alexander Dilthey, University of Oxford, UK - An integrated HLA type imputation framework
15:50 - 16:20 Coffee break
16:20 - 16:45 Noah Rosenberg, University of Michigan, USA - Homozygosity, linkage disequilibrium and imputation in diverse worldwide populations
16:45 - 17:10 Paul Flicek, European Bioinformatics Institute, UK - The challenges of access and annotation of human variation
17:10 - 17:25 Richard Wilson, University of Glasgow, UK - Variation and Function within the MSH3:DHFR Promoter Region
17:25 - 17:40 Julian Knight, University of Oxford, UK - Integrating genome-wide association studies with functional maps of protein-DNA interactions: insights from ChIP-seq analysis of vitamin D receptor binding
17:40 - 18:05 Carlos D. Bustamante, Cornell University, USA - Population genetics in the Personal Genome Era
18:05 - 19:30 Dinner

Day Three: Tuesday 22 June 2010

09:00 - 13:25 Functional Variation
09:00 - 09:25 Mike Stratton, The Wellcome Trust Sanger Institute, UK - Evolution of the cancer genome
09:25 - 09:50 Vivien Cheung,  Howard Hughes Medical Institute, USA - Genetics of human gene expression
09:50 - 10:15 Manolis Dermitzakis, University of Geneva Medical School - Switzerland - Cellular genetics and genomics
10:15 - 10:40 Ewan Birney, European Bioinformatics Institute, UK - Associations of molecular phenotypes to human variation
10:40 - 10:55 Stefan Maas, Lehigh University, USA - RNA and protein variation through RNA editing: Transcriptome-wide discovery of vertebrate RNA modification sites
10:55 - 11:10 Ni Huang, Wellcome Trust Sanger Institute, UK - Characterising and predicting haploinsufficiency in the human genome
11:10 - 11:40 Coffee break
11:40 - 12:05 Jorge Ferrer, Institut d'Investigacions Biomediques August Pi i Sunyer, Spain - The epigenetic landscape of human pancreatic islets
12:05 - 12:30 Søren Brunak, Technical University of Denmark, Denmark - Integrative meta-analysis of multiple data sources in the context of human variation
12:30 - 12:55 Mark McCarthy, OCDEM, UK - Sweet dreams?  Turning the base metal of genetic discoveries into the gold of novel biology
12:55 - 13:10 Lusine Nazaryan, Copenhagen University, Denmark - Changes of Methylation Marks in Human Copy Number Variations
13:10 - 13:25 Jan Korbel, EMBL, Germany - Variation in Transcription Factor Binding Among Humans
13:25 - 14:30 Lunch
14:30 - 17:00 Poster Session
17:00 - 18:00 Keynote speaker - Svante Paabo, MPI for Evolutionary Anthropology, Germany - The Neandertal Genome
18:00 - 24:00 Dinner & Party

Day Four: Wednesday 23 June 2010

09:00 - 13:30 Disease Genetics
09:00 - 09:05 Welcome and Introduction by Helen Hobbs, UT Southwestern Medical Center, USA
09:05 - 09:30 Mark Daly,  Harvard Medical School, USA - What we have and haven't learned from GWAS
09:30 - 09:45 Reecha Sofat, University College London, UK - Mendelian randomisation for drug target validation
09:45 - 10:10 Helen Hobbs, Southwestern Medical Center, USA - Rare variants in complex diseases: not so rare but still complex
10:10 - 10:25 Claudia Gonzaga-Jauregui, Baylor College of Medicine, USA - GJB1/Connexin32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease
10:25 - 10:40 Mirna Marinic, EMBL, Germany - Limb malformations in a microduplication-associated genetic disorder
10:40 - 11:05 John Trowsdale, Cambridge Institute for Medical Research, UK  - Extreme variation in MHC and Natural Killer Cell Receptor genes
11:05 - 11:25 Coffee break
11:25 - 11:40 Alexandra Gylfe, University of Helsinki, Finland - Somatic mutations and germline sequence variants in patients with familial colorectal cancer
11:40 - 12:05 Rick Lifton, Yale School of Medicine, USA
12:05 - 12:20 Benjamin Lehne, King's College London, UK - Sequencing extended exomes to understand complex diseases
12:20 - 12:50 Panel Discussion:

Resequencing in individuals, families and populations: perils and promise

Moderator: Helen Hobbs, Southwestern Medical Center, USA

Panellists:
Mark Daly,  Harvard Medical School, USA
Evan Eichler, University of Washington, USA
John Trowsdale, Cambridge Institute for Medical Research, UK
Rick Lifton, Yale School of Medicine, USA 

12:50

Conference ends