Human Gene Mutation Database
收藏arXiv2025-09-30 收录
下载链接：
http://www.hgmd.cf.ac.uk/ac/index.php
下载链接
链接失效反馈官方服务：
资源简介：
该数据集名为人类基因突变数据库（HGMD），它详尽地收集了与人类遗传疾病相关的核基因的生殖细胞突变。由于其广泛的应用于评估与疾病相关的基因变异，HGMD在研究人员中颇具人气。当前的任务是对变异效应进行预测。
This dataset is named the Human Gene Mutation Database (HGMD), which comprehensively collects germline mutations of nuclear genes associated with human genetic disorders. Due to its wide applications in evaluating disease-related genetic variants, HGMD is highly popular among researchers. The current task is to predict the effects of these variants.
提供机构：
Institute of Medical Genetics, Cardiff University
