Literature DB >> 19931420

An automated reasoning framework for translational research.

Alberto Riva1, Angelo Nuzzo, Mario Stefanelli, Riccardo Bellazzi.   

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.

Entities:  

Mesh:

Year:  2009        PMID: 19931420      PMCID: PMC2878845          DOI: 10.1016/j.jbi.2009.11.005

Source DB:  PubMed          Journal:  J Biomed Inform        ISSN: 1532-0464            Impact factor:   6.317


  25 in total

1.  Principal components analysis corrects for stratification in genome-wide association studies.

Authors:  Alkes L Price; Nick J Patterson; Robert M Plenge; Michael E Weinblatt; Nancy A Shadick; David Reich
Journal:  Nat Genet       Date:  2006-07-23       Impact factor: 38.330

Review 2.  Automation of in-silico data analysis processes through workflow management systems.

Authors:  Paolo Romano
Journal:  Brief Bioinform       Date:  2007-12-02       Impact factor: 11.622

3.  A dynamic query system for supporting phenotype mining in genetic studies.

Authors:  Angelo Nuzzo; Daniele Segagni; Giuseppe Milani; Carla Rognoni; Riccardo Bellazzi
Journal:  Stud Health Technol Inform       Date:  2007

4.  Knowledge-based expert systems and a proof-of-concept case study for multiple sequence alignment construction and analysis.

Authors:  Mohamed Radhouene Aniba; Sophie Siguenza; Anne Friedrich; Frédéric Plewniak; Olivier Poch; Aron Marchler-Bauer; Julie Dawn Thompson
Journal:  Brief Bioinform       Date:  2008-10-29       Impact factor: 11.622

Review 5.  The Wnt signaling pathway effector TCF7L2 and type 2 diabetes mellitus.

Authors:  Tianru Jin; Ling Liu
Journal:  Mol Endocrinol       Date:  2008-07-03

6.  BioWMS: a web-based Workflow Management System for bioinformatics.

Authors:  Ezio Bartocci; Flavio Corradini; Emanuela Merelli; Lorenzo Scortichini
Journal:  BMC Bioinformatics       Date:  2007-03-08       Impact factor: 3.169

7.  Phenotypic and genotypic data integration and exploration through a web-service architecture.

Authors:  Angelo Nuzzo; Alberto Riva; Riccardo Bellazzi
Journal:  BMC Bioinformatics       Date:  2009-10-15       Impact factor: 3.169

8.  Type 2 diabetes susceptibility gene TCF7L2 and its role in beta-cell function.

Authors:  Anna L Gloyn; Matthias Braun; Patrik Rorsman
Journal:  Diabetes       Date:  2009-04       Impact factor: 9.461

9.  Structuring and extracting knowledge for the support of hypothesis generation in molecular biology.

Authors:  Marco Roos; M Scott Marshall; Andrew P Gibson; Martijn Schuemie; Edgar Meij; Sophia Katrenko; Willem Robert van Hage; Konstantinos Krommydas; Pieter W Adriaans
Journal:  BMC Bioinformatics       Date:  2009-10-01       Impact factor: 3.169

10.  Pegasys: software for executing and integrating analyses of biological sequences.

Authors:  Sohrab P Shah; David Y M He; Jessica N Sawkins; Jeffrey C Druce; Gerald Quon; Drew Lett; Grace X Y Zheng; Tao Xu; B F Francis Ouellette
Journal:  BMC Bioinformatics       Date:  2004-04-19       Impact factor: 3.169

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  5 in total

1.  Improving data and knowledge management to better integrate health care and research.

Authors:  M Cases; L I Furlong; J Albanell; R B Altman; R Bellazzi; S Boyer; A Brand; A J Brookes; S Brunak; T W Clark; J Gea; P Ghazal; N Graf; R Guigó; T E Klein; N López-Bigas; V Maojo; B Mons; M Musen; J L Oliveira; A Rowe; P Ruch; A Shabo; E H Shortliffe; A Valencia; J van der Lei; M A Mayer; F Sanz
Journal:  J Intern Med       Date:  2013-07-15       Impact factor: 8.989

2.  Current methodologies for translational bioinformatics.

Authors:  Yves A Lussier; Atul J Butte; Lawrence Hunter
Journal:  J Biomed Inform       Date:  2010-05-12       Impact factor: 6.317

3.  Severe testing with high-dimensional omics data for enhancing biomedical scientific discovery.

Authors:  Frank Emmert-Streib
Journal:  NPJ Syst Biol Appl       Date:  2022-10-21

4.  A knowledge-based method for association studies on complex diseases.

Authors:  Alireza Nazarian; Heike Sichtig; Alberto Riva
Journal:  PLoS One       Date:  2012-09-06       Impact factor: 3.240

5.  Selection of disease-specific biomarkers by integrating inflammatory mediators with clinical informatics in AECOPD patients: a preliminary study.

Authors:  Hong Chen; Zhenju Song; Mengjia Qian; Chunxue Bai; Xiangdong Wang
Journal:  J Cell Mol Med       Date:  2012-06       Impact factor: 5.310

  5 in total

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