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Tuesday, November 06, 2012 - Wednesday, November 07, 2012



A Satellite of ASHG 2012


Phenome projects for a number of model organisms such as mouse, rat, and zebrafish have providing phenotypic data on the consequences of genetic mutations in these organisms for nearly a decade. Driving these projects is the conviction that a comprehensive and precise analysis of the phenotype is needed to take full advantage of findings from genome sequences and high-throughput experiments in order to understand the biology of the genome. However, for humans, no efforts on a similar scale have emerged that use standardized measures for capturing phenotypic manifestations of disease and correlating them to genotypes, environmental exposures, and response to treatment. On the other hand, it is becoming clear that deep phenotype data, combined with ever increasing amounts of genomic data, have an enormous potential to accelerate the identification of clinically actionable complications, of disease subtypes with prognostic or therapeutic implications, and in general to improve our understanding of human health and disease.


Many international groups in Human Genetics are beginning to realize the importance of the topic. Although it has in the past been difficult to agree on common semantic and technical standards as well as the ethical and legal framework for collecting and analyzing human phenotype data, with the advent of the 1000$ genome and the burgeoning movement to establish precision medicine, now if the time for our community to “put up or shut up”. The Human Variome Project (HVP) has founded a Phenotype Interest Group that is organizing this satellite meeting to the American Society of Human Genetics meeting in San Francisco. The purpose of this meeting is to capture international opinions on the topic and to develop recommendations and standards for HVP databases for capturing human phenotypic data and recording it in medical databases. The HVP will work to promote these standards internationally.


The meeting will be a full day meeting. The final session of the meeting will be an open discussion of the days’ lectures and of other suggestions and ideas that participants are invited to send to the organizers before the meeting. The output of the meeting will be a position paper that will be published on the HVP website as a request for comments.


More information can be found on the meeting website.