Biomedical subjects

Karina Gibert

Publications and source records attributed to Karina Gibert.

3 recordsLinked to original sources

PubMed2005

Inherited disorder phenotypes: controlled annotation and statistical analysis for knowledge mining from gene lists.

BACKGROUND: Analysis of inherited diseases and their associated phenotypes is of great importance to gain knowledge of underlying genetic interactions and could ultimately give clinically useful insights into disease processes, including complex diseases influenced by multiple genetic loci. Nevertheless, to date few computational contributions have been proposed for this purpose, mainly due to lack of controlled clinical information easily accessible and structured for computational genome-wise analyses. To allow performing phenotype analyses of inherited disorder related genes we implemented new original modules within GFINDer http://www.bioinformatics.polimi.it/GFINDer/, a Web system we previously developed that dynamically aggregates functional annotations of user uploaded gene lists and allows performing their statistical analysis and mining. RESULTS: New GFINDer modules allow annotating large numbers of user classified biomolecular sequence identifiers with morbidity and clinical information, classifying them according to genetic disease phenotypes and their locations of occurrence, and statistically analyzing the obtained classifications. To achieve this we exploited, normalized and structured the information present in textual form in the Clinical Synopsis sections of the Online Mendelian Inheritance in Man (OMIM) databank. Such valuable information delineates numerous signs and symptoms accompanying many genetic diseases and it is divided into phenotype location categories, either by organ system or type of finding. CONCLUSION: Supporting phenotype analyses of inherited diseases and biomolecular functional evaluations, GFINDer facilitates a genomic approach to the understanding of fundamental biological processes and complex cellular mechanisms underlying patho-physiological phenotypes.

Computational Biology↗

PubMed2002

Impact of data encoding and thyroids dysfunctions.

In medical environments it is usual to previously encode some variables following medical criteria. In the context of thyroids dysfunctions, the levels of the hormones T3, T4 or TSH are usually treated as low, normal or high instead of using their numerical form, and this is a very common practice in other items. In medical environments it is also frequent to need a clustering process to analyze data. Clus-tering algorithms use always some distance or similarity coefficient to decide which elements have to be grouped in a cluster. The nature of the data determines which distance/similarity can be used, and can change results. In this paper, the impact of preprocessing numerical levels of hormones into categorical labels for clustering is studied, by means of a real sample of patients from a Hospital in Zagreb (Croatia).

Algorithms↗

PubMedDate not supplied

Qualitative profiles of disability.

This study identified profiles of functional disability (FD) paralleled by increasing levels of disability. We assessed 96 subjects using the World Health Organization Disability Assessment Schedule II (WHODAS II). Clustering Based on Rules (ClBR) (a hybrid technique of Statistics and Artificial Intelligence) was used in the analysis. Four groups of subjects with different profiles of FD were ordered according to an increasing degree of disability: "Low," self-dependent subjects with no physical or emotional problems; "Intermediate I," subjects with low or moderate physical and emotional disability, with high perception of disability; "Intermediate II," subjects with moderate or severe disability concerning only physical problems related to self-dependency, without emotional problems; and "High," subjects with the highest degree of disability, both physical and emotional. The order of the four classes is paralleled by a significant difference (<0.001) in the WHODAS II standardized global score. In this paper, a new ontology for the knowledge of FD, based on the use of ClBR, is proposed. The definition of four classes, qualitatively different and with an increasing degree of FD, helps to appropriately place each patient in a group of individuals with a similar profile of disability and to propose standardized treatments for these groups.

Disability Evaluation↗