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

机译:PAS-MUT与癌症和临床基因组学研究中的癌症和分类疾病的突变:PAS-MUT和躯体突变

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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:在近年来,在人类的复杂性状方面取得了巨大进展。这些研究表明,需要产生通过现代资源获得的适当基因疾病注释储存库。我们的重点是创建一个全面的数据库,通过移动访问全球癌症和分类疾病的正宗躯体突变,被视为临床和基因组学研究的基础,流行病学和精密药。在此手稿中,我们展示了非商业,学术和公开可用的iOS应用IE,PAS-MUT,邀请全球用户在iPhone和iPad设备上自由下载它,快速采用其易于使用的界面和搜索体细胞突变,基因和相关疾病。 PAS-MUT由Swift多范式编程语言,Xcode集成开发环境,用于MacOS,以及使用MySQL数据库和Web服务器的PHP脚本。 PAS-Mut数据库包括超过一百万的正宗躯体突变,包括在宇宙,CNVD,Swissvar和Clinvar等上可用.PAS-Mut是在临床和科学的前提下,支持和促进与技术共享的医疗保健和基因组学数据共享。进步。

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