MobiDetails is an expert tool, online application which gathers useful data for the interpretation of DNA variants in the context of molecular diagnosis. It brings together in a single tool many sources of data, such as population genetics, various kinds of predictors, Human Genome Variation Society (HGVS) nomenclatures, curated databases, and access to various annotations. Accurate interpretation of DNA variants is crucial and can impact the patient care or have familial outcomes (prenatal diagnosis). Its importance will increase in the coming years with the expansion of the personalized medicine. MobiDetails is specifically designed to help with this task. Exonic or intronic substitutions and small insertions/deletions related to more than 18,000 human genes are easily submitted and annotated in real-time. It is a responsive website that can be accessed using mobiles or tablets during medical staff meetings. MobiDetails is based on publicly available resources, does not include any specific data on patients or phenotypes, and is freely available for academic use at https://mobidetails.iurc.montp.inserm.fr/MD/.

MobiDetails 是一个专家工具、在线应用程序，它收集有用的数据，用于在分子诊断的背景下解释 DNA 变异。它在一个工具中汇集了许多数据源，例如群体遗传学、各种预测因子、人类基因组变异协会 (HGVS) 命名法、精选数据库以及对各种注释的访问。DNA 变异的准确解释至关重要，可能会影响患者护理或产生家庭结果（产前诊断）。随着个性化医疗的扩展，其重要性将在未来几年增加。MobiDetails 专门用于帮助完成此任务。与超过 18,000 个人类基因相关的外显子或内含子替换和小插入/缺失可以轻松提交和实时注释。这是一个响应式网站，可以在医务人员会议期间使用手机或平板电脑访问。MobiDetails 基于公开可用的资源，不包括有关患者或表型的任何特定数据，可在 https://mobidetails.iurc.montp.inserm.fr/MD/ 上免费用于学术用途。