DETI/IEETA, Universidade de Aveiro, Portugal.
J Biomed Inform. 2013 Dec;46(6):1108-15. doi: 10.1016/j.jbi.2013.08.006. Epub 2013 Aug 21.
Advances in "omics" hardware and software technologies are bringing rare diseases research back from the sidelines. Whereas in the past these disorders were seldom considered relevant, in the era of whole genome sequencing the direct connections between rare phenotypes and a reduced set of genes are of vital relevance. This increased interest in rare genetic diseases research is pushing forward investment and effort towards the creation of software in the field, and leveraging the wealth of available life sciences data. Alas, most of these tools target one or more rare diseases, are focused solely on a single type of user, or are limited to the most relevant scientific breakthroughs for a specific niche. Furthermore, despite some high quality efforts, the ever-growing number of resources, databases, services and applications is still a burden to this area. Hence, there is a clear interest in new strategies to deliver a holistic perspective over the entire rare genetic diseases research domain. This is Diseasecard's reasoning, to build a true lightweight knowledge base covering rare genetic diseases. Developed with the latest semantic web technologies, this portal delivers unified access to a comprehensive network for researchers, clinicians, patients and bioinformatics developers. With in-context access covering over 20 distinct heterogeneous resources, Diseasecard's workspace provides access to the most relevant scientific knowledge regarding a given disorder, whether through direct common identifiers or through full-text search over all connected resources. In addition to its user-oriented features, Diseasecard's semantic knowledge base is also available for direct querying, enabling everyone to include rare genetic diseases knowledge in new or existing information systems. Diseasecard is publicly available at http://bioinformatics.ua.pt/diseasecard/.
“组学”硬件和软件技术的进步正在将罕见病研究带回前沿。过去，这些疾病很少被认为具有相关性，但在全基因组测序时代，罕见表型与一组减少的基因之间的直接联系具有至关重要的意义。对罕见遗传疾病研究的兴趣增加，推动了该领域软件的投资和开发，并利用了丰富的生命科学数据。然而，这些工具大多数针对一种或多种罕见疾病，仅专注于单一类型的用户，或者仅限于特定利基市场最相关的科学突破。此外，尽管有一些高质量的努力，但不断增加的资源、数据库、服务和应用程序数量仍然是该领域的负担。因此，人们显然有兴趣采用新策略来全面了解整个罕见遗传疾病研究领域。这就是 Diseasecard 的思路，即构建一个真正涵盖罕见遗传疾病的轻量级知识库。该门户采用最新的语义网技术开发，为研究人员、临床医生、患者和生物信息学开发人员提供了对综合网络的统一访问。通过覆盖 20 多种不同异质资源的上下文访问，Diseasecard 的工作区提供了对特定疾病最相关科学知识的访问，无论是通过直接的通用标识符还是通过对所有连接资源的全文搜索。除了面向用户的功能外，Diseasecard 的语义知识库还可用于直接查询，使每个人都能将罕见遗传疾病知识纳入新的或现有的信息系统中。Diseasecard 可在 http://bioinformatics.ua.pt/diseasecard/ 上公开获取。
