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是一个免费可访问的公共存档库，收录人类变异与表型之间关联的相关报告，并附带支撑证据。因此，ClinVar有助于获取和交流人类变异与观测到的健康状态之间所宣称的关联，以及该解读的演变历程。ClinVar会处理各类提交数据，包括患者样本中发现的变异报告、针对其临床意义作出的判定、提交者相关信息及其他支撑数据。提交数据中描述的等位基因会被映射至参考序列，并按照HGVS（人类基因组变异学会，Human Genome Variation Society）标准进行报告。随后，ClinVar会为交互式用户，以及希望在日常工作流程或其他本地应用中使用ClinVar的用户提供数据访问服务。ClinVar与相关机构开展合作，以尽可能高效、有效地满足医学遗传学社区的需求。

搜集汇总

背景与挑战

背景概述

ClinVar是一个公开可访问的数据库，存档了人类基因变异与表型之间关系的报告及支持证据，旨在促进相关信息的获取与交流。它接收并处理临床意义断言等提交数据，按照标准进行映射和呈现，以支持用户交互和日常工作流程应用。