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The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers

McVey, John H.; Rallapalli, Pavithra M.; Kemball‐Cook, Geoffrey; Hampshire, Daniel J.; Giansily‐Blaizot, Muriel; Gomez, Keith; Perkins, Stephen J.; Ludlam, Christopher A.

Authors

John H. McVey

Pavithra M. Rallapalli

Geoffrey Kemball‐Cook

Muriel Giansily‐Blaizot

Keith Gomez

Stephen J. Perkins

Christopher A. Ludlam



Abstract

Introduction
Advances in genomic sequencing have facilitated the sequencing of genes associated with disorders of haemostasis. The identification of variants within genes and access to curated data incorporating structural, functional, evolutionary as well as phenotypic data has become increasingly important in order to ascribe pathogenicity.

Aim
The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Database Project aims to provide a single port of entry to a web‐accessible resource for variants in genes involved in clinical bleeding disorders.

Results
New databases have evolved from previously developed single gene variant coagulation database projects, incorporating new data, new analysis tools and a new common database architecture with new interfaces and filters. These new databases currently present information about the genotype, phenotype (laboratory and clinical) and structural and functional effects of variants described in the genes of factor (F) VII (F7), FVIII (F8 ), FIX (F9 ) and von Willebrand factor (VWF).

Conclusion
The project has improved the quality and quantity of information available to the haemostasis research and clinical communities, thereby enabling accurate classification of disease severity in order to make assessments of likely pathogenicity.

Journal Article Type Article
Journal Haemophilia
Print ISSN 1351-8216
Electronic ISSN 1365-2516
Publisher Wiley
Peer Reviewed Peer Reviewed
Volume 26
Pages 306–313
APA6 Citation McVey, J. H., Rallapalli, P. M., Kemball‐Cook, G., Hampshire, D. J., Giansily‐Blaizot, M., Gomez, K., …Ludlam, C. A. (in press). The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers. Haemophilia, 26, 306–313. https://doi.org/10.1111/hae.13947
DOI https://doi.org/10.1111/hae.13947
Keywords blood coagulation factors; factor VII; genotype; haemophilia A; haemophilia B; von Willebrand factor; Genetics (clinical); Hematology; General Medicine
Additional Information Received: 2019-08-27; Accepted: 2020-02-06; Published: 2020-03-13

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