首页|CHDbase:A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations
CHDbase:A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations
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万方数据
维普
Congenital heart disease(CHD)is one of the most common causes of major birth defects,with a prevalence of 1％.Although an increasing number of studies have reported the etiology of CHD,the findings scattered throughout the literature are difficult to retrieve and utilize in research and clinical practice.We therefore developed CHDbase,an evidence-based knowledgebase of CHD-related genes and clinical manifestations manually curated from 1114 publications,linking 1124 susceptibility genes and 3591 variations to more than 300 CHD types and related syndromes.Metadata such as the information of each publication and the selected population and samples,the strategy of studies,and the major findings of studies were integrated with each item of the research record.We also integrated functional annotations through parsing～50 databases/tools to facilitate the interpretation of these genes and variations in disease pathogenicity.We further prioritized the significance of these CHD-related genes with a gene interaction network approach and extracted a core CHD sub-network with 163 genes.The clear genetic landscape of CHD enables the phenotype classification based on the shared genetic origin.Overall,CHDbase provides a comprehensive and freely available resource to study CHD susceptibilities,supporting a wide range of users in the sci-entific and medical communities.CHDbase is accessible at http://chddb.fwgenetics.org.
State Key Laboratory of Cardiovascular Disease,Beijing Key Laboratory for Molecular Diagnostics of Cardiovascular Diseases,Center of Laboratory Medicine,Fuwai Hospital,National Center for Cardiovascular Diseases,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China
International Joint Informatics Laboratory & Jiangsu Key Laboratory of Data Engineering and Knowledge Service,School of Information Management,Nanjing University,Nanjing 210023,China
Institute of Molecular Medicine,Peking University,Beijing 100871,China
Young Scientists Fund of the National Natural Science Foundation of ChinaChinese Academy of Medical Sciences Initiative for Innovative Medicine
万方数据
维普
