Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine
Debutant iOS app and gene-disease complexities in clinical genomics and precision medicine
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DOI：
10.1186/s40169-019-0243-8
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发表时间：
2019-12-01
影响因子：
10.6
通讯作者：
Liang, Bruce T.
中科院分区：
文献类型：
--
作者：
Ahmed, Zeeshan;Zeeshan, Saman;Liang, Bruce T.
背景在过去的十年里，科学数据的可用性急剧增加，其中与人类相关的生物数据库不仅在数量上而且在数量上增长，在数据存储、处理、分析、交换和管理方面提出了前所未有的挑战。下一代测序(NGS)的进步促进并加速了识别基因变异的进程。在诊断环境中采用具有全基因组和RNA测序的NGS有可能改进疾病风险检测，以支持精确医学和药物发现。已经开发了几个生物信息学管道，通过有效地处理和分析序列数据来加强变体解释，而许多已发表的结果表明，基因组数据如何主动纳入医疗实践，并提高临床信息的利用率。为了利用基因组学和健康的财富，迫切需要生成通过现代技术访问的适当的基因疾病注释库。结果我们的重点是创建一个全面的数据库，可以移动访问可操作的基因和分类的疾病，被认为是临床基因组学和精确医学的基础。我们提供了一个公开可用的iOS应用程序PAS-Gen，它邀请全球用户在iPhone和iPad设备上免费下载它，快速采用其易于使用的界面，并搜索基因和相关疾病。PAS-Gen是使用SWIFT、XCODE和PHP脚本开发的，该脚本使用Web和MySQL数据库服务器，其中包括59,000多个蛋白质编码和非编码基因，以及90,000多个分类的基因-疾病关联。PAS-Gen建立在临床和科学前提之上，即更容易的医疗保健和基因组数据共享将加速未来的医学发现。结论我们提出了一个带有智能手机应用的尖端基因-疾病数据库，集成了分类疾病和相关基因的信息。PAS-Gen应用程序将通过提供可能与某些疾病的可能性有关的基因的广泛和观点来帮助研究人员、医生和药剂师。这一工具加速了用户理解人类复杂疾病的遗传基础的能力，并通过吸收基因组和表型数据，将支持未来的工作，以确定特定基因设计的药物，针对肿瘤的精确分子指纹，建议适当的药物治疗，预测个人对疾病的易感性，以及诊断和治疗罕见疾病。
Background The last decade has seen a dramatic increase in the availability of scientific data, where human-related biological databases have grown not only in count but also in volume, posing unprecedented challenges in data storage, processing, analysis, exchange, and curation. Next generation sequencing (NGS) advancements have facilitated and accelerated the process of identifying genetic variations. Adopting NGS with Whole-Genome and RNA sequencing in a diagnostic context has the potential to improve disease-risk detection in support of precision medicine and drug discovery. Several bioinformatics pipelines have been developed to strengthen variant interpretation by efficiently processing and analyzing sequence data, whereas many published results show how genomics data can be proactively incorporated into medical practices and improve utilization of clinical information. To utilize the wealth of genomics and health, there is a crucial need to generate appropriate gene-disease annotation repositories accessed through modern technology. Results Our focus here is to create a comprehensive database with mobile access to actionable genes and classified diseases, considered the foundation for clinical genomics and precision medicine. We present a publicly available iOS app, PAS-Gen, which invites global users to freely download it on iPhone and iPad devices, quickly adopt its easy to use interface, and search for genes and related diseases. PAS-Gen was developed using Swift, XCODE, and PHP scripting that uses Web and MySQL database servers, which includes over 59,000 protein-coding and non-coding genes, and over 90,000 classified gene-disease associations. PAS-Gen is founded on the clinical and scientific premise that easier healthcare and genomics data sharing will accelerate future medical discoveries. Conclusions We present a cutting-edge gene-disease database with a smart phone application, integrating information on classified diseases and related genes. The PAS-Gen app will assist researchers, medical practitioners, and pharmacists by providing a broad and view of genes that may be implicated in the likelihood of developing certain diseases. This tool with accelerate users' abilities to understand the genetic basis of human complex diseases and by assimilating genomic and phenotypic data will support future work to identify gene-specific designer drugs, target precise molecular fingerprints for tumors, suggest appropriate drug therapies, predict individual susceptibility to disease, and diagnose and treat rare illnesses.