John H McVey1, Pavithra M Rallapalli2, Geoffrey Kemball-Cook3, Daniel J Hampshire4, Muriel Giansily-Blaizot5, Keith Gomez3, Stephen J Perkins2, Christopher A Ludlam6. 1. School of Bioscience and Medicine, University of Surrey, Guildford, UK. 2. Department of Structural and Molecular Biology, University College London, London, UK. 3. Katherine Dormandy Haemophilia Centre and Thrombosis Unit, Royal Free London NHS Foundation Trust, London, UK. 4. Department of Biomedical Sciences, University of Hull, Hull, UK. 5. Hematologie Biologique, CHU Montpellier, Montpellier, France. 6. University of Edinburgh, Edinburgh, UK.
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.
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.
Authors: Ángel Bernardo; Alberto Caro; Daniel Martínez-Carballeira; José Ramón Corte; Sonia Vázquez; Carmen Palomo-Antequera; Alfredo Andreu; Álvaro Fernández-Pardo; Julia Oto; Laura Gutiérrez; Inmaculada Soto; Pilar Medina Journal: J Clin Med Date: 2022-06-10 Impact factor: 4.964
Authors: Juliana Lago; Helena Groot; Diego Navas; Paula Lago; María Gamboa; Dayana Calderón; Diana C Polanía-Villanueva Journal: Genes (Basel) Date: 2021-11-18 Impact factor: 4.096