GPCards

Catalogued 8,309 genetic variants in 1,288 genes of 17,738 patients with formatted clinical phenotypic features from 1,855 studies;
Integrated more than 62 popular variant-level and gene-level genomic data sources to interpret the function and pathogenicity of genetic variants;
Provided a convenient interface for users to analysis their own genetic data, perform comprehensive annotation, and identified genotype-phenotype correlations.

基于1855项研究，完成了17738名患者1288个基因内共8309个遗传变异的编目工作，所有样本均附带标准化的临床表型特征；整合了超过62个主流的变异水平与基因水平基因组数据源，用于解析遗传变异的功能与致病性；为用户提供便捷的交互界面，支持用户开展自身遗传数据分析、全面注释，并挖掘基因型与表型间的关联关系。