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GenDomus: Interactive and collaboration mechanisms for diagnosing genetic diseases

Abstract:

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.