ALSoD

ALSoD is a freely available database that has been transformed from a single gene storage facility recording mutations in the SOD1 gene to a multigene ALS bioinformatics repository and analytical instrument combining genotype, phenotype, and geographical information with associated analysis tools. These include a comparison tool to evaluate genes side by side or jointly with user configurable features, a pathogenicity prediction tool using a combination of computational approaches to distinguish variants with nonfunctional characteristics from disease-associated mutations with more dangerous consequences, and a credibility tool to enable ALS researchers to objectively assess the evidence for gene causation in ALS. Furthermore, integration of external tools, systems for feedback, annotation by users, and two-way links to collaborators hosting complementary databases further enhance the functionality of ALSoD.

ALSoD是一个可供免费使用的数据库，它由单一基因存储设施记录的SOD1基因突变记录转换而来，演变为一个多基因ALS生物信息学仓库与分析工具。该仓库与工具结合了基因型、表型以及地理信息，并配备相关的分析工具。这些工具包括一个比较工具，用于评估基因的并列或联合使用用户自定义特征的基因，一个利用计算方法组合进行致病性预测的工具，用以区分具有非功能特性的变异与具有更严重后果的疾病相关突变，以及一个可信度工具，以帮助ALS研究人员客观评估基因在ALS中的因果证据。此外，ALSoD的功能性得到了进一步增强，包括外部工具的整合、反馈系统、用户的注释以及与托管互补数据库的合作者的双向链接。