Methods Inf Med - Supporting translational research on inherited cardiomyopathies through information technology.

Tópicos

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Resumo

JECTIVES: The INHERITANCE project, funded by the European Commission, is aimed at studying genetic or inherited Dilated cardiomyopathies (DCM) and at understanding the impact and management of the disease within families that suffer from heart conditions that are caused by DCMs. The biomedical informatics research activity of the project aims at implementing information technology solutions to support the project team in the different phases of their research, in particular in genes screening prioritization and new gene-disease association discovery.METHODS: In order to manage the huge quantity of scientific, clinical and patient data generated by the project several advanced biomedical informatics tools have been developed. The paper describes a layer of software instruments to support translation of the results of the project in clinical practice as well as to support the scientific discovery process. This layer includes data warehousing, intelligent querying of the phenotype data, integrated search of biological data and knowledge repositories, text mining of the relevant literature, and case based reasoning.RESULTS: At the moment, a set of 1,394 patients and 9,784 observations has been stored into the INHERITANCE data warehouse. The literature database contains more than 1,100,000 articles retrieved from the Pubmed and generically related to cardiac diseases, already analyzed for extracting medical concepts and genes.CONCLUSIONS: After two years of project the data warehouse has been completely set up and the text mining tools for automatic literature analysis have been implemented and tested. A first prototype of the decision support tool for knowledge discovery and gene prioritization is available, but a more complete release is still under development.

Resumo Limpo

jectiv inherit project fund european commiss aim studi genet inherit dilat cardiomyopathi dcm understand impact manag diseas within famili suffer heart condit caus dcms biomed informat research activ project aim implement inform technolog solut support project team differ phase research particular gene screen priorit new genediseas associ discoverymethod order manag huge quantiti scientif clinic patient data generat project sever advanc biomed informat tool develop paper describ layer softwar instrument support translat result project clinic practic well support scientif discoveri process layer includ data wareh intellig queri phenotyp data integr search biolog data knowledg repositori text mine relev literatur case base reasoningresult moment set patient observ store inherit data warehous literatur databas contain articl retriev pubm generic relat cardiac diseas alreadi analyz extract medic concept genesconclus two year project data warehous complet set text mine tool automat literatur analysi implement test first prototyp decis support tool knowledg discoveri gene priorit avail complet releas still develop

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