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- W2891880995 abstract "The continuous improvement in our understanding of the human genome is leading to an increasing viable and effective Precision Medicine. Its intention is to provide a personalized solution to any individual health problem. Nevertheless, three main issues must be considered to make Precision Medicine a reality: i) the understanding of the huge amount of genomic data, spread out in hundreds of genome data sources, with different formats and contents, whose semantic interoperability is a must; ii) the development of information systems intended to guide the search of relevant genomic repositories related with a disease, the identification of significant information for its prevention, diagnosis and/or treatment and its management in an efficient software platform; iii) the high variability in the quality of the publicly available information. This paper presents a conceptual framework for solving these problems by i) using a precise conceptual schema of the human genome, and ii) introducing a method to search, identify, load and adequately interpret the required data, assuring its quality during the entire process." @default.
- W2891880995 created "2018-09-27" @default.
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- W2891880995 date "2018-05-01" @default.
- W2891880995 modified "2023-09-27" @default.
- W2891880995 title "Toward an Effective Medicine of Precision by Using Conceptual Modelling of the Genome" @default.
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