ClinVar - Data Lakehouse Ready

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 acc...

ClinVar 是一个免费开放的公共档案库，收录人类变异与表型（phenotype）之间关联的报告及配套佐证证据。借此，ClinVar 可为人类变异与观测到的健康状态之间的关联断言，以及该解读的历史沿革，提供便捷的获取途径与交流渠道。ClinVar 会处理各类提交内容，包括患者样本中检出的变异报告、针对其临床意义的断言、提交者相关信息，以及其他辅助支撑数据。提交内容中描述的等位基因（allele）会被映射至参考序列（reference sequence），并予以公开报道……