CHDGKB

CHDGKB (A knowledgebase of non-syndromic congenital heart disease genetic variations) is a manually curated database of genetic variations associated with non syndromic congenital heart disease. CHDGKB contains a comprehensive information of genetic variations for 370 subtypes of human congenital heart disease reported in pubmed from 1998, which would provide an exhaustive and summary of current status of non-syndromic CHD genetic research that can contribute to better interpret the human variants for illustrating NS-CHD causing variants. The database will be updated about half a year regularly.CHDGKB（非综合征性先天性心脏病遗传变异知识库，knowledgebase of non-syndromic congenital heart disease genetic variations）是一款经人工整理注释的、与非综合征性先天性心脏病相关的遗传变异数据库。该数据库收录了自1998年以来发表于PubMed的、覆盖370种人类先天性心脏病亚型的全面遗传变异信息，可为当前非综合征性先天性心脏病遗传研究的现状提供详尽系统的总结，助力更好地解读人类遗传变异，以阐明导致非综合征性先天性心脏病的致病变异。该数据库约每半年定期更新一次。

搜集汇总

背景与挑战

背景概述

CHDGKB是一个手动整理的非综合征性先天性心脏病遗传变异数据库，收录了自1998年以来PubMed中报告的370种先天性心脏病亚型的全面遗传变异信息。该数据库旨在总结当前非综合征性先天性心脏病遗传研究现状，辅助人类变异的解释，并每半年定期更新。