Human Genome Variation Society, Hilton Vienna Danube, Vienna, Austria
23rd May 2009
A Satellite meeting to the European Society of Human Genetics Annual Meeting
Genome Wide Association Studies; the last mile problem
Recently, there has been dramatic expansion in the frequency and breadth of genome wide association studies for nearly every conceivable human phenotype. In many instances, statistically-significant associations for numerous SNPs (or adjacent genomic intervals) are apparently being replicated by studies of independent cohorts. To date, few of these SNPs have either been established as causative mutations or have led to the unequivocal identification of pathogenic variants. Challenges include the size and gene content of the genomic intervals genetically associated with phenotypes, the penetrance and severity of mutations, and the ability to distinguish pathogenic variants from benign polymorphisms. This conference will emphasize strategies that are being undertaken to identify these mutations. Speakers will present recent intensive efforts to narrow/fine map these intervals, high throughput sequencing approaches to comprehensively define the range of variation in association intervals, and in silico approaches aimed at prioritizing potentially pathogenic sequences in affected individuals.
The HGVS organises two one day meetings per year as a forum for scientists to exchange ideas and form collaborations. The meetings are designed to update and increase knowledge of human genome variation and generally attract a stimulating and interesting collection of abstracts in all fields of human genome variation making it an ideal forum to share information and results. We invite members and non-members alike to attend what promises to be a stimulating meeting.