| Autor: |
McVey, John, Rallapalli, Pavithra M., Kemball-Cook, Geoffrey, Hampshire, Daniel J., Giansily-Blaizot, Muriel, Gomez, Keith, Perkins, Stephen J., Ludlam, Christopher A. |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Popis: |
Introduction: Advances in genomic sequencing have facilitated the sequencing of genes associated with disorders of haemostasis. The identification of variants within genes, 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. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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