ClinVar

ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes, with supporting evidence. ClinVar thus facilitates access to and communication about the relationships asserted between human variation and observed health status, and the history of that interpretation. ClinVar processes submissions reporting variants found in patient samples, assertions made regarding their clinical significance, information about the submitter, and other supporting data. The alleles described in submissions are mapped to reference sequences, and reported according to the HGVS standard. ClinVar then presents the data for interactive users as well as those wishing to use ClinVar in daily workflows and other local applications. ClinVar works in collaboration with interested organizations to meet the needs of the medical genetics community as efficiently and effectively as possible

ClinVar是一个开放获取的公共数据库，收录了人类变异与表型之间的关系报告及其支持性证据。ClinVar因此促进了人类变异与观察到的健康状况之间所声称关系以及该解释历史的访问与交流。ClinVar处理提交的关于患者在样本中发现的变异、关于其临床意义的声明、提交者信息以及其他支持数据。提交中描述的等位基因被映射到参考序列，并按照HGVS标准进行报告。随后，ClinVar将数据以交互式用户和希望将ClinVar应用于日常工作流程及其他本地应用的用户可访问的形式呈现。ClinVar与感兴趣的机构合作，以尽可能高效和有效地满足医学遗传学社区的需求。