CDG

o facilitate the discovery of novel gene-disease associations, we determined the putative biologically closest known genes and their associated diseases for 13,005 human genes not currently reported to be disease-associated. We used these data to construct the closest disease-causing genes (CDG) server, which can be used to infer the closest genes with an associated disease for a user-defined list of genes or diseases. We demonstrate the utility of the CDG server in five immunodeficiency patient exomes across different diseases and modes of inheritance, where CDG dramatically reduced the number of candidate genes to be evaluated为推动新型基因-疾病关联的发掘，我们针对13005个目前尚未有疾病关联报道的人类基因，逐一确定了在生物学层面推定的、与其最为邻近的已知基因及其关联疾病。基于上述数据，我们构建了致病邻近基因（Closest Disease-causing Genes, CDG）服务器，该工具可针对用户自定义的基因或疾病列表，推断出与之存在疾病关联的最邻近基因。我们通过5例涵盖不同疾病类型与遗传模式的免疫缺陷患者外显子组数据验证了CDG服务器的实用价值：该工具可显著缩减待评估的候选基因数量。

搜集汇总

背景与挑战

背景概述

该数据集旨在促进新基因-疾病关联的发现，通过为13,005个尚未报告与疾病相关的人类基因确定了其推定生物学上最接近的已知基因及相关疾病。基于此构建的CDG服务器，可用于根据用户定义的基因或疾病列表推断最接近的致病基因，并在免疫缺陷病例分析中有效缩小了候选基因范围。