Human Variation: Cause and Consequence
EMBL Advanced Training Centre, Heidelberg, Germany
Sunday 20 June - Wednesday 23 June 2010
Programme
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Day One: Sunday 20 June 2010 |
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| 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 |
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Day Two: Monday 21 June 2010 |
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| 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 |
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Day Three: Tuesday 22 June 2010 |
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| 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 |
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Day Four: Wednesday 23 June 2010 |
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| 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, USAPanellists: |
| 12:50 |
Conference ends |