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Publication Detail
Eahad-DB: a combined coagulation factor variant databases resource for the clinical and scientificcommunities
  • Publication Type:
  • Authors:
    Hampshire D, Cairo A, Dolan G, Ginsily=Blaizot M, Gomez K, Goodeve A, Kemball-Cook G, Ludlam C, McVey J, Oldenburg J, Perkins S, Peyvandi F, Rallapalli P
  • Presented date:
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Background: Locus-specific databases available for coagulation factors (CoagDB) are a highly valued clinical/scientific resource; providing searchable lists of sequence variants and information on the pheno- type-genotype correlations in patients with inherited bleeding disor- ders. For several coagulation factors multiple CoagDB exist, each containing different (and sometimes conflicting) information causing confusion amongst users. CoagDB also receive little or no administra- tive/financial support, putting their long-term viability at risk. Aims: To create a combined CoagDB portal and sophisticated new searchable websites for each factor to provide centralised administra- tive/financial support to CoagDB curators and consistent information to CoagDB users. Methods: Initially focusing on CoagDB for von Willebrand factor (VWF) and coagulation factors IX (F9), VIII (F8), VII (F7) and XI (F11) the European Association for Haemophilia and Allied Disorders (EAHAD) evaluated current information, data submission and data curation processes and addressed data protection and associated ethi- cal issues. Results: Access to all five CoagDB has been combined under a central EAHAD portal (www.eahad-db.org) allowing a common data protec- tion policy and variant submission process to be adopted. Information on known variants and associated phenotypic data is provided for all factors, while enhanced databases (currently available for F8 and F9) provide additional information, e.g. regarding protein structure and sequence alignments. Conclusion: EAHAD have established a common CoagDB front-end, initially incorporating F7, F8, F9, F11 and VWF with plans for incor- poration of further genes. This portal will serve as a worldwide repos- itory providing accurate and consistent information for all coagulation factors relevant to all those working in the clinical and scientific sectors, while also ensuring long-term administrative/finan- cial support.
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