Genomics in Thrombosis and Hemostasis Subcommittee

The aim of the Working Group is to develop an approach to assist in reducing the time to diagnosis of rare platelet and bleeding disorders, by taking advantage of advances in Next generation sequencing (NGS) and selective capture technologies. For this potential to be fully realized, it is essential to develop a publicly accessible database that will provide stable reference DNA sequences with respect to which sequence variants that are known to be associated with rare inherited disorders can be mapped.

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Mandate

• Curation of gene sequences, transcripts and known variants causative of rare platelet and bleeding disorders.
• Databasing of genes and causative variants to provide a stable and sustainable frame of reference suitable for clinical application.
• Integration of sequence variation data with other data such as population variation, pathways, gene expression, protein structures and clinical phenotype information.
• Platform development, to allow the simultaneous testing of all known platelet and bleeding disorders in one next generation sequencing (NGS) test.

Role

The following are the ongoing activities and responsibilities of the Subcommittee.

• Selection of the most likely gene sequence and primary transcript from existing data sources (e.g. Ensembl, RefSeqGene).
• Curation of clinical variantsfrom existing sources such as other databases and publications.
• Recruitment of ISTH experts to approve gene sequences, primary transcripts and clinical variants.
• Provision of tools to assist in the curation and approval process.
• Ensure the databasing of curated information into a stable and sustainable open access database.
• Development of a Next Generation Sequencing platform for the simultaneous testing of all known platelet and bleeding disorders.
• Banking of DNA from patients with known diagnosis for the purposes of testing the NGS platform.

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Official Communications

• Minutes
• Bibliography
• Publication Guidelines

Additional Resources

• Thrombogenomics