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News & Press: ISTH News

Genomics in Thrombosis and Hemostasis Confirmed as SSC Subcommittee

Friday, January 23, 2015   (0 Comments)
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 Genomics in Thrombosis and Hemostasis
is now a confirmed SSC subcommittee

The ISTH Working Group on Genomics has now been confirmed as a Scientific and Standardization Committee (SSC) on “Genomics in Thrombosis and Hemostasis.” The new Subcommittee is chaired by Willem H. Ouwehand (University of Cambridge, UK) and aims with the support of the ISTH Community to make a real impact on the clinical care of patients with rare inherited bleeding, thrombotic and platelet disorders and their close relatives. This objective will be achieved by improving the diagnosis of these rare disorders by exploiting the power of next generation sequencing.

The main plans for the first year of activity of the Subcommittee include the implementation of Human Phenotype Ontology (HPO) terms to standardize the description of patients’ clinical and laboratory phenotypes, the finalization of gene curation to establish gene and transcript sequences for 64 genes for use as references and the validation of a next generation sequencing platform for the analysis of patient DNA samples. Progress on the three mentioned activities will be reviewed at the ISTH 2015 Congress in Toronto during the Subcommittee morning session on Sunday, June 21, 2015.

For further information about the Subcommittee please visit the Genomics SSC subcommittee page or

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