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GenDomus: Interactive and Collaboration Mechanisms for Diagnosing Genetic Diseases

机译：德梅斯：诊断遗传疾病的互动和协作机制

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摘要

Considering the impact of Next Generation Sequence (NGS) technologies into the genetic field, the data analysis of huge amounts of sequenced DNA to transform it into knowledge has become a challenge. Within the diagnosis of genetic diseases, the data analysis is still a manual procedure where human cognitive endeavour and active collaboration of several stakeholders is required. Web technologies have been widely used to improve the collaboration between different devices. We present GenDomus, a web solution based on an underlying conceptual model that incorporates advanced interactions mechanisms and collaborative and cognitive aspects in order to support scientists in the diagnosis of genetic diseases. The relevant contribution is to describe the design guidelines and advances in the implementation of such a solution. The cognitive analysis perspective together with the collaborative environment in the complex context of the genome analysis domain conforms an attractive combination where web technologies can provide advanced efficient platforms to improve the genetic diagnosis.
机译：考虑到下一代序列（NGS）技术对遗传领域的影响，大量测序DNA的数据分析将其转化为知识已经成为挑战。在遗传疾病的诊断中，数据分析仍然是一种手动程序，需要人类认知努力和几种利益相关者的积极合作。 Web技术已被广泛用于改善不同设备之间的协作。我们呈现了基于潜在的概念模型的Web解决方案，该模特融入了先进的相互作用机制和协作和认知方面，以支持科学家诊断遗传疾病。相关贡献是描述实施此类解决方案的设计准则和进展。在基因组分析结构域的复杂语境中，与协作环境的认知分析透视符合有吸引力的组合，其中网络技术可以提供先进的有效平台以改善遗传诊断。

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