Genomics in Thrombosis and Hemostasis Subcommittee

The aim of the subcommittee  is to develop an approach to assist in reducing the time to diagnosis of rare inherited platelet, thrombotic and bleeding disorders (BTPD), by taking advantage of advances in high throughput sequencing (HTS) technologies. For this potential to be fully realized, it is essential to develop and maintain a publicly accessible database that provides an evidence-based catalogue of diagnostic-grade (TIER1) genes for all known BTPD. Next, an integrated reference database of gold-standard disorder-causing DNA variants should be developed, which are clearly pathogenic, likely pathogenic and of unknown significance. Integrating HTS for complex genetics in the field of BTPD and the development of polygenic risk scores. 

If you are interested in the subcommittee and want to follow its activity, please click "join group" above to sign up as a member (follower). 

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).
• Sharing research (TIER2) BTPD genes for upgrading to TIER1 statuus
• Curation of gold-standard disorder-causing DNA from existing sources such as other databases and publications
• Ensure the databasing of curated information into a stable and sustainable open access database.
• Development polygenic risk scores for BTPD.

If you are a member of the Society and would like to know how to participate in the work of this group, please join the group to receive updates on activity or submit an Expression of Interest Form to the Chairman or any of the Co-Chairmen. We would be pleased to learn of your interest.

Official Communications

• Minutes
• Bibliography
• Publication Guidelines

Additional Resources

• Thrombogenomics