CHDRFKB

CHD-RF-KB (A knowledgebase for non-syndromic congenital heart disease associated risk factors) is a manually curated database of genetic variations and other risk factors associated with non-syndromic congenital heart disease (NS-CHD). CHD-RF-KB contains a comprehensive information of genetic variations and non-genetic factors for 609 subtypes (including 231 isolated and 378 non-isolated subtypes) of human NS-CHD reported in PubMed from 1998, which would provide an exhaustive and summary of current status of non-syndromic CHD genetic and risk-related research. CHD-RF-KB can not only help researchers better to interpret the human variants for illustrating NS-CHD causing variants, but also be an improvement tool to further provide assessment of recurrence risk and prognosis, guidance of diagnostic and outcomes, as well as disease precaution. The database will be updated about one year regularly. CHD-RF-KB has several distinct characters as follows: 1) CHD-RF-KB represents the comprehensive research synopsis in the field of genetics and other risk factors associated with NS-CHD; 2) All the entries in CHD-RF-KB are comprehensively annotated, including CHD type (ID, type, description), information of risk factors (genetic and non-genetic), sample information (Population, Region, Source, Method, Treatment and control group data), reference information (PubMed, Year, ID title); 3) CHD-RF-KB provides an interactive platform for the public to share the research results related to genetic and other risk factors associated with non-syndromic congenital heart disease and screen information of these two parts separately; 4) Based on the full-scale of CHD-RF-KB, public researchers can obtain homogeneous results from the statistical analysis of data, which help to further systemic analyses of mechanisms about NS-CHD at molecular level. In addition, CHD-RF-KB can also provide exhibition of the association graph between genotypes and phenotypes, along with graphs between phenotypes and risk factors associated with NS-CHD, which can contribute to elucidate the complex relationships between them. Should you have any questions, please do not hesitate to contact us (lilylan5930@sina.com). Citation: Yang L, Yang Y, Liu X, Chen Y, Chen Y, Lin Y, Sun Y, Shen B. CHDGKB: a knowledgebase for systematic understanding of genetic variations associated with non-syndromic congenital heart disease. Database (Oxford). 2020 Jan 1;2020:baaa048. doi: 10.1093/database/baaa048. PMID: 32608479.