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Genome Wide Association Studies: the last mile problem

  December 15, 2008  

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.

Organized by: Human Genome Variation Society
Invited Speakers:


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The Human Genome Variation Society invites submissions of abstracts for the Symposium on Genome Wide Association Studies; the last mile problem. There will be two classes of abstracts, those for GWAS and those on general human genome variation. You are welcome to attend the meeting without submitting an abstract. Only those registering are able to submit abstracts. Preference will be given to GWAS abstracts.

Deadline for Abstracts: 15th March 2009

Registration Fees

Registration fee includes administration costs, coffee breaks and lunch.

All costs in Euro
(until 30th April 2009)
(from 1st May 2009 - onsite)
HGVS Member75110
E-mail: rania@variome.org
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