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

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 pathoge...

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Veröffentlicht in:Journal of thrombosis and haemostasis Jg. 19; H. 10; S. 2612 - 2617
Hauptverfasser: Megy, Karyn, Downes, Kate, Morel‐Kopp, Marie‐Christine, Bastida, José M., Brooks, Shannon, Bury, Loredana, Leinoe, Eva, Gomez, Keith, Morgan, Neil V., Othman, Maha, Ouwehand, Willem H., Perez Botero, Juliana, Rivera, José, Schulze, Harald, Trégouët, David‐Alexandre, Freson, Kathleen
Format: Journal Article
Sprache:Englisch
Veröffentlicht: England Elsevier Limited 01.10.2021
Wiley
John Wiley and Sons Inc
Schlagworte:
Bleeding
Blood Platelet Disorders - diagnosis
Blood Platelet Disorders - genetics
Communication
Genetic diversity
Genomics
Hemostasis
Hemostasis - genetics
Humans
Isth Ssc Communications
Laboratories
Life Sciences
Pathogenicity
Platelets
Prediction models
Recommendations and Guidelines
Santé publique et épidémiologie
Standardization
Thrombosis
Thrombosis - diagnosis
Thrombosis - genetics
mutation
thrombosis
genes
blood
platelets
hemorrhage
Mutation
Platelets
Thrombosis
Hemorrhage
Genes
Blood
ISSN:1538-7836, 1538-7933, 1538-7836
Online-Zugang:Volltext
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Zusammenfassung: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.
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Manuscript handled by: Joost Meijers
Final decision: Joost Meijers, 09 July 2021
This work was supported by a research grant from the ISTH.
Funding Information
ISSN:1538-7836
1538-7933
1538-7836
DOI:10.1111/jth.15459