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Rigshospitalet - a part of Copenhagen University Hospital
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GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

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DOI

  1. The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Transcriptional characterization of human megakaryocyte polyploidization and lineage commitment

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Good practice statements (GPS) for the clinical care of patients with thrombotic thrombocytopenic purpura

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. ISTH guidelines for the diagnosis of thrombotic thrombocytopenic purpura

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Platelet function testing: Current practice among clinical centres in Northern Europe

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Arvelige trombocytsygdomme

    Research output: Contribution to journalReviewResearchpeer-review

  • Karyn Megy
  • Kate Downes
  • Marie-Christine Morel-Kopp
  • José M Bastida
  • Shannon Brooks
  • Loredana Bury
  • Eva Leinoe
  • Keith Gomez
  • Neil V Morgan
  • Maha Othman
  • Willem H Ouwehand
  • Juliana Perez Botero
  • José Rivera
  • Harald Schulze
  • David-Alexandre Trégouët
  • Kathleen Freson
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The implementation of high-throughput sequencing (HTS) technologies in research and diagnostic laboratories has linked many new genes to rare bleeding, thrombotic, and platelet disorders (BTPD), and revealed multiple genetic variants linked to those disorders, many of them being of uncertain pathogenicity when considering the accepted evidence (variant consequence, frequency in control datasets, number of reported patients, prediction models, and functional assays). The sequencing effort has also resulted in resources for gathering disease-causing variants associated with specific genes, but for BTPD, such well-curated databases exist only for a few genes. On the other hand, submissions by individuals or diagnostic laboratories to the variant database ClinVar are hampered by the lack of a submission process tailored to capture the specific features of hemostatic diseases. As we move toward the implementation of HTS in the diagnosis of BTPD, the Scientific and Standardization Committee for Genetics in Thrombosis and Haemostasis has developed and tested a REDCap-based interface, aimed at the community, to submit curated genetic variants for diagnostic-grade BTPD genes. Here, we describe the use of the interface and the initial submission of 821 variants from 30 different centers covering 14 countries. This open-access variant resource will be shared with the community to improve variant classification and regular bulk data transfer to ClinVar.

Original languageEnglish
JournalJournal of thrombosis and haemostasis : JTH
Volume19
Issue number10
Pages (from-to)2612-2617
Number of pages6
ISSN1538-7933
DOIs
Publication statusPublished - Oct 2021

Bibliographical note

© 2021 The Authors. Journal of Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis.

    Research areas

  • Blood Platelet Disorders/diagnosis, Communication, Genomics, Hemostasis/genetics, Humans, Thrombosis/diagnosis

ID: 69933481