In this paper we propose a novel approach to the design and implementation of knowledge-based decision support systems for translational research, specifically tailored to the analysis and interpretation of data from high-throughput experiments. Our approach is based on a general epistemological model of the scientific discovery process that provides a well-founded framework for integrating experimental data with preexisting knowledge and with automated inference tools. In order to demonstrate the usefulness and power of the proposed framework, we present its application to Genome-Wide Association Studies, and we use it to reproduce a portion of the initial analysis performed on the well-known WTCCC dataset. Finally, we describe a computational system we are developing, aimed at assisting translational research. The system, based on the proposed model, will be able to automatically plan and perform knowledge discovery steps, to keep track of the inferences performed, and to explain the obtained results.

An automated reasoning framework for translational research

NUZZO, ANGELO;STEFANELLI, MARIO;BELLAZZI, RICCARDO
2010-01-01

Abstract

In this paper we propose a novel approach to the design and implementation of knowledge-based decision support systems for translational research, specifically tailored to the analysis and interpretation of data from high-throughput experiments. Our approach is based on a general epistemological model of the scientific discovery process that provides a well-founded framework for integrating experimental data with preexisting knowledge and with automated inference tools. In order to demonstrate the usefulness and power of the proposed framework, we present its application to Genome-Wide Association Studies, and we use it to reproduce a portion of the initial analysis performed on the well-known WTCCC dataset. Finally, we describe a computational system we are developing, aimed at assisting translational research. The system, based on the proposed model, will be able to automatically plan and perform knowledge discovery steps, to keep track of the inferences performed, and to explain the obtained results.
2010
Computer Science & Engineering includes resources on computer hardware and architecture, computer software, software engineering and design, computer graphics, programming languages, theoretical computing, computing methodologies, broad computing topics, and interdisciplinary computer applications.
Molecular Biology & Genetics considers all aspects of basic and applied genetics, including molecular genetics, prokaryotic and eukaryotic gene expression, mechanisms of mutagenesis, structure, function and regulation of genetic material. Also included are resources concerned with clinical genetics, patterns of inheritance, genetic cause, and screening and treatment of disease. Resources dealing specifically with developmentally regulated gene expression, or with signal transduction pathways that modulate gene expression at the cellular level are excluded and are covered in the Cell and Developmental Biology category.
Medical Research, General Topics covers a wide array of topics in medical and biomedical research, with a specific emphasis on human disease, human tissues, and all levels of research into the pathogenesis of clinically significant conditions. Specific medical fields that are characterized by the inclusion of material from several other specializations are also covered here; these include general and internal medicine, tropical medicine, pediatrics, gerontology, epidemiology, and public health. Resources dealing with specific clinical interventions are excluded and are placed in the Medical Research: Diagnosis & Treatment category. Resources that emphasize the specific disease types, or specific systems affected are also excluded and are categorized according to the pathogen or system pathophysiology.
Sì, ma tipo non specificato
Inglese
Internazionale
ELETTRONICO
43
3
419
427
9
Epub 2009 Nov 18
bioinformatics; knowledge-based systems; genome-wide data analysis; automated reasoning
4
info:eu-repo/semantics/article
262
Riva, A; Nuzzo, Angelo; Stefanelli, Mario; Bellazzi, Riccardo
1 Contributo su Rivista::1.1 Articolo in rivista
none
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11571/208105
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