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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Vydáno v:	Journal of thrombosis and haemostasis Ročník 19; číslo 10; s. 2612 - 2617
Hlavní autoři:	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
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	England Elsevier Limited 01.10.2021 Wiley John Wiley and Sons Inc
Témata:	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
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Abstract	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.
AbstractList	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. 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.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.
Author	Megy, Karyn Downes, Kate Bastida, José M. Rivera, José Morel‐Kopp, Marie‐Christine Perez Botero, Juliana Trégouët, David‐Alexandre Brooks, Shannon Othman, Maha Bury, Loredana Leinoe, Eva Gomez, Keith Morgan, Neil V. Freson, Kathleen Ouwehand, Willem H. Schulze, Harald
AuthorAffiliation	7 International Society on Thrombosis and Haemostasis (ISTH) Carrboro North Carolina USA 13 School of Baccalaureate Nursing, St. Lawrence College Kingston Ontario Canada 11 Institute of Cardiovascular Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK 14 Division of Hematology/Oncology Medical College of Wisconsin and Versiti Diagnostic Laboratories Milwaukee Wisconsin USA 19 Present address: Centre for Genomics Research Discovery Sciences BioPharmaceuticals R&D AstraZeneca Cambridge UK 10 Haemophilia Centre and Thrombosis Unit Royal Free London NHS Foundation Trust London UK 12 Biomedical and Molecular Sciences School of Medicine Queen’s University Kingston Ontario, Canada 6 Department of Hematology IBSAL‐Hospital Universitario de Salamanca Salamanca Spain 1 Department of Haematology University of Cambridge Cambridge Biomedical Campus Cambridge UK 4 Department of Haematology and Transfusion Medicine Royal North Shore Hospital Sydney New South Wales Australia
AuthorAffiliation_xml	– name: 5 Northern Blood Research Centre Kolling Institute The University of Sydney Sydney New South Wales Australia – name: 11 Institute of Cardiovascular Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK – name: 8 Section of Internal and Cardiovascular Medicine Department of Medicine University of Perugia Perugia Italy – name: 16 Institute of Experimental Biomedicine University Hospital Wuerzburg Wuerzburg Germany – name: 18 Department of Cardiovascular Sciences Center for Molecular and Vascular Biology KU Leuven Leuven Belgium – name: 4 Department of Haematology and Transfusion Medicine Royal North Shore Hospital Sydney New South Wales Australia – name: 3 East Genomic Laboratory Hub Cambridge University Hospitals NHS Foundation Trust Cambridge UK – name: 17 INSERM UMR_S 1219 Bordeaux Population Health Research Center University of Bordeaux Bordeaux France – name: 7 International Society on Thrombosis and Haemostasis (ISTH) Carrboro North Carolina USA – name: 1 Department of Haematology University of Cambridge Cambridge Biomedical Campus Cambridge UK – name: 6 Department of Hematology IBSAL‐Hospital Universitario de Salamanca Salamanca Spain – name: 19 Present address: Centre for Genomics Research Discovery Sciences BioPharmaceuticals R&D AstraZeneca Cambridge UK – name: 9 Department of Haematology Rigshospitalet National University Hospital Copenhagen Denmark – name: 15 Servicio de Hematología y Oncología Médica Hospital Universitario Morales Meseguer Centro Regional de Hemodonación Universidad de Murcia IMIB‐Arrixaca CIBERER‐U765 Murcia Spain – name: 2 NIHR BioResource Cambridge University Hospitals Cambridge Biomedical Campus Cambridge UK – name: 12 Biomedical and Molecular Sciences School of Medicine Queen’s University Kingston Ontario, Canada – name: 13 School of Baccalaureate Nursing, St. Lawrence College Kingston Ontario Canada – name: 10 Haemophilia Centre and Thrombosis Unit Royal Free London NHS Foundation Trust London UK – name: 14 Division of Hematology/Oncology Medical College of Wisconsin and Versiti Diagnostic Laboratories Milwaukee Wisconsin USA
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SubjectTerms	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
Title	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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