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PAS-MUT with Somatic Mutations in Cancer and Classified Diseases for Clinical-Genomics Research: PAS-MUT Somatic Mutations

机译:具有癌症和分类疾病中的体细胞突变的PAS-MUT用于临床基因组学研究:PAS-MUT和体细胞突变

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Over the recent years, enormous progress has been made in mapping complex traits in humans. These studies have demonstrated that there is a crucial need to generate appropriate gene-disease annotation repositories accessed through modern resources. Our focus here is to create a comprehensive database with mobile access to authentic somatic mutations in cancer and classified diseases worldwide, considered as the foundation for clinical and genomics research, epidemiology and precision medicine. In this manuscript, we present a non-commercial, academic and publically available iOS app i.e., PAS-MUT, which invites global users to freely download it on iPhone & iPad devices, quickly adopt its easy to use interface and search for somatic mutations, genes and related diseases. PAS-MUT is developed with Swift multi-paradigm programming language, XCODE integrated development environment for MacOS, and PHP scripting that uses MySQL database and web servers. PAS-MUT database includes over a million authentic somatic mutations released global, including available at the COSMIC, CNVD, SwissVar, and ClinVar etc. PAS-MUT is founded on the clinical and scientific premise to support and promote healthcare and genomics data sharing with technological advancements.
机译:近年来,在绘制人类复杂性状方面取得了巨大进展。这些研究表明,迫切需要生成可通过现代资源访问的适当的基因疾病注释库。我们在这里的重点是创建一个可移动访问全球癌症和分类疾病中真实体细胞突变的综合数据库,被认为是临床和基因组研究,流行病学和精密医学的基础。在这份手稿中,我们介绍了一个非商业,学术和公开可用的iOS应用程序,即PAS-MUT,该应用程序邀请全球用户在iPhone和iPad设备上免费下载它,迅速采用其易于使用的界面并搜索体细胞突变,基因和相关疾病。 PAS-MUT是使用Swift多范式编程语言,用于MacOS的XCODE集成开发环境以及使用MySQL数据库和Web服务器的PHP脚本开发的。 PAS-MUT数据库包含全球发布的超过一百万种真实的体细胞突变,包括在COSMIC,CNVD,SwissVar和ClinVar等处可用。PAS-MUT建立在临床和科学前提下,以支持和促进医疗保健和基因组学数据与技术的共享进步。

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