School of Bioscience and Medicine, University of Surrey, Guildford, UK.
Department of Structural and Molecular Biology, University College London, London, UK.
Haemophilia. 2020 Mar;26(2):306-313. doi: 10.1111/hae.13947. Epub 2020 Mar 13.
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.
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.
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).
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.
基因组测序的进步使得与止血紊乱相关的基因测序成为可能。为了确定致病性，识别基因内的变异体以及访问包含结构、功能、进化和表型数据的经过整理的数据变得越来越重要。
欧洲血友病和相关疾病协会（EAHAD）凝血因子变异数据库项目旨在为涉及临床出血性疾病的基因中的变异体提供一个单一的网络访问资源入口。
新的数据库是从以前开发的单一基因变异凝血数据库项目发展而来的，纳入了新的数据、新的分析工具以及具有新接口和筛选器的新的通用数据库架构。这些新的数据库目前提供了关于 F7、F8、F9 和 VWF 基因中描述的变异体的基因型、表型（实验室和临床）以及结构和功能影响的信息。
该项目提高了止血研究和临床社区可用信息的质量和数量，从而能够准确分类疾病严重程度，以便评估可能的致病性。
