a Department of Biostatistics and Health Informatics, Institute of Psychiatry Psychology and Neuroscience , King's College London , London , UK.
b Department of Basic and Clinical Neuroscience , Maurice Wohl Clinical Neuroscience Institute, King's College London , London , UK.
Amyotroph Lateral Scler Frontotemporal Degener. 2019 May;20(3-4):207-215. doi: 10.1080/21678421.2018.1562553. Epub 2019 Mar 5.
Amyotrophic lateral sclerosis (ALS, MND) is a neurodegenerative disease of upper and lower motor neurons resulting in death from neuromuscular respiratory failure, typically within two years of first symptoms. Genetic factors are an important cause of ALS, with variants in more than 25 genes having strong evidence, and weaker evidence available for variants in more than 120 genes. With the increasing availability of next-generation sequencing data, non-specialists, including health care professionals and patients, are obtaining their genomic information without a corresponding ability to analyze and interpret it. Furthermore, the relevance of novel or existing variants in ALS genes is not always apparent. Here we present ALSgeneScanner, a tool that is easy to install and use, able to provide an automatic, detailed, annotated report, on a list of ALS genes from whole-genome sequencing (WGS) data in a few hours and whole exome sequence data in about 1 h on a readily available mid-range computer. This will be of value to non-specialists and aid in the interpretation of the relevance of novel and existing variants identified in DNA sequencing data.
肌萎缩侧索硬化症（ALS，MND）是一种影响上下运动神经元的神经退行性疾病，会导致呼吸肌衰竭而死亡，通常在首发症状后两年内发生。遗传因素是 ALS 的一个重要原因，已有 25 个以上基因的变异得到了强有力的证据支持，120 多个基因的变异也有较弱的证据支持。随着下一代测序数据的日益普及，包括医疗保健专业人员和患者在内的非专业人员正在获取他们的基因组信息，但却没有相应的分析和解释能力。此外，ALS 基因中新或现有的变异的相关性并不总是显而易见的。在这里，我们介绍 ALSgeneScanner，这是一种易于安装和使用的工具，能够在数小时内为来自全基因组测序（WGS）数据的 ALS 基因列表，以及在大约 1 小时内为外显子组序列数据，提供自动、详细、注释的报告。这对于非专业人员来说非常有价值，并有助于解释在 DNA 测序数据中发现的新的和现有的变异的相关性。
