Abstract
This paper describes an information technology infrastructure aimed at supporting translational bioinformatics studies that require joint management of phenotypic and genotypic data. In particular, we integrated an electronic medical record with an open-source environment for data mining to create a flexible and easy to use query system aimed at supporting the discovery of the most frequent complex traits. We propose a logical formalization to define the phenotypes of interest; this is translated into a graphical interface that allows the user to combine different conditions relative to the electronic medical record data (e.g., the presence of a particular pathology). The phenotypes are then stored in a multidimensional database. Then, the data mining system engine reads the filtered data from the database and executes dynamic queries for analyzing phenotypic data, presenting the results in a multidimensional format through a simple web interface. The system has been applied in a study on genetically isolated individuals, the Val Borbera project.
| Original language | English |
|---|---|
| Title of host publication | Studies in Health Technology and Informatics |
| Pages | 1275-1279 |
| Number of pages | 5 |
| Volume | 129 |
| Publication status | Published - 2007 |
| Event | 12th World Congress on Medical Informatics, MEDINFO 2007 - Brisbane, QLD, Australia Duration: Aug 20 2007 → Aug 24 2007 |
Other
| Other | 12th World Congress on Medical Informatics, MEDINFO 2007 |
|---|---|
| Country | Australia |
| City | Brisbane, QLD |
| Period | 8/20/07 → 8/24/07 |
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Keywords
- clinical data warehouse
- complex traits
- intelligent query
- phenotype mining
ASJC Scopus subject areas
- Biomedical Engineering
- Health Informatics
- Health Information Management
Cite this
A dynamic query system for supporting phenotype mining in genetic studies. / Nuzzo, Angelo; Segagni, Daniele; Milani, Giuseppe; Rognoni, Carla; Bellazzi, Riccardo.
Studies in Health Technology and Informatics. Vol. 129 2007. p. 1275-1279.Research output: Chapter in Book/Report/Conference proceeding › Conference contribution
}
TY - GEN
T1 - A dynamic query system for supporting phenotype mining in genetic studies
AU - Nuzzo, Angelo
AU - Segagni, Daniele
AU - Milani, Giuseppe
AU - Rognoni, Carla
AU - Bellazzi, Riccardo
PY - 2007
Y1 - 2007
N2 - This paper describes an information technology infrastructure aimed at supporting translational bioinformatics studies that require joint management of phenotypic and genotypic data. In particular, we integrated an electronic medical record with an open-source environment for data mining to create a flexible and easy to use query system aimed at supporting the discovery of the most frequent complex traits. We propose a logical formalization to define the phenotypes of interest; this is translated into a graphical interface that allows the user to combine different conditions relative to the electronic medical record data (e.g., the presence of a particular pathology). The phenotypes are then stored in a multidimensional database. Then, the data mining system engine reads the filtered data from the database and executes dynamic queries for analyzing phenotypic data, presenting the results in a multidimensional format through a simple web interface. The system has been applied in a study on genetically isolated individuals, the Val Borbera project.
AB - This paper describes an information technology infrastructure aimed at supporting translational bioinformatics studies that require joint management of phenotypic and genotypic data. In particular, we integrated an electronic medical record with an open-source environment for data mining to create a flexible and easy to use query system aimed at supporting the discovery of the most frequent complex traits. We propose a logical formalization to define the phenotypes of interest; this is translated into a graphical interface that allows the user to combine different conditions relative to the electronic medical record data (e.g., the presence of a particular pathology). The phenotypes are then stored in a multidimensional database. Then, the data mining system engine reads the filtered data from the database and executes dynamic queries for analyzing phenotypic data, presenting the results in a multidimensional format through a simple web interface. The system has been applied in a study on genetically isolated individuals, the Val Borbera project.
KW - clinical data warehouse
KW - complex traits
KW - intelligent query
KW - phenotype mining
UR - http://www.scopus.com/inward/record.url?scp=70350249348&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=70350249348&partnerID=8YFLogxK
M3 - Conference contribution
SN - 9781586037741
VL - 129
SP - 1275
EP - 1279
BT - Studies in Health Technology and Informatics
ER -