ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
ALSoD: A user-friendly online bioinformatics tool for amyotrophic lateral sclerosis genetics
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DOI：
10.1002/humu.22157
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发表时间：
2012-09-01
期刊：
影响因子：
3.9
通讯作者：
Al-Chalabi, Ammar
中科院分区：
文献类型：
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作者：
Abel, Olubunmi;Powell, John F.;Al-Chalabi, Ammar
肌萎缩侧索硬化症（amyotrophiclateralsclerosis，ALS）是最常见的成人运动神经元疾病，发病高峰年龄在70岁左右。随着遗传技术的进步，产生的遗传数据量大幅增加，相应地需要存储、分析和解释，特别是当我们对基因型和表型之间关系的理解成熟时。在这里，我们提出了一个系统，使这一形式的ALS在线数据库（ALSoD在http://alsod.iop.kcl.ac.uk），一个免费提供的数据库，已从一个单一的基因存储设施记录突变的SOD 1基因的多基因ALS生物信息学知识库和分析仪器相结合的基因型，表型和地理信息与相关的分析工具。这些包括一个比较工具，以评估基因并排或与用户可配置的功能，致病性预测工具使用计算方法的组合，以区分与疾病相关的突变与更危险的后果，和一个可信度工具，使ALS研究人员能够客观地评估ALS基因因果关系的证据。此外，整合外部工具、反馈系统、用户注释以及与托管补充数据库的合作者的双向链接，进一步增强了ALSoD的功能。Mutat 33：1345-1351，2012. (c)2012 Wiley Periodicals，Inc.
Amyotrophic lateral sclerosis (ALS) is the commonest adult onset motor neuron disease, with a peak age of onset in the seventh decade. With advances in genetic technology, there is an enormous increase in the volume of genetic data produced, and a corresponding need for storage, analysis, and interpretation, particularly as our understanding of the relationships between genotype and phenotype mature. Here, we present a system to enable this in the form of the ALS Online Database (ALSoD at http://alsod.iop.kcl.ac.uk), 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. Hum Mutat 33:1345-1351, 2012. (c) 2012 Wiley Periodicals, Inc.