Biology subjects

Lagunes Garcia, G.

Publications and source records attributed to Lagunes Garcia, G..

4 recordsLinked to original sources

bioRxiv2020

Analysis of new nosological models from disease similarities using clustering

While classical disease nosology is based on phenotypical characteristics, the increasing availability of biological and molecular data is providing new understanding of diseases and their underlying relationships, that could lead to a more comprehensive paradigm for modern medicine. In the present work, similarities between diseases are used to study the generation of new possible disease nosologic models that include both phenotypical and biological information. To this aim, disease similarity is measured in terms of disease feature vectors, that stood for genes, proteins, metabolic pathways and PPIs in the case of biological similarity, and for symptoms in the case of phenotypical similarity. An improvement in similarity computation is proposed, considering weighted instead of Booleans feature vectors. Unsupervised learning methods were applied to these data, specifically, density-based DBSCAN clustering algorithm. As evaluation metric silhouette coefficient was chosen, even though the number of clusters and the number of outliers were also considered. As a results validation, a comparison with randomly distributed data was performed. Results suggest that weighted biological similarities based on proteins, and computed according to cosine index, may provide a good starting point to rearrange disease taxonomy and nosology.

bioinformatics↗

bioRxiv2019

Completing missing MeSH code mappings in UMLS through alternative expert-curated sources

The increasing availability of biological, clinical and literary sources enables the study of diseases from a more comprehensive approach. However, the interoperability of these sources, particularly of the codes used to identify diseases, poses a major challenge. Because of its role as a hub of multiple medical vocabularies, the Unified Medical Language System (UMLS) has become one of the most widely used resources for mapping diseases from different classification systems. The coverage of these mappings, nevertheless, is still limited, so researchers must resort to other methods to fill these gaps. In this article we analyze the limitations in UMLS mappings for the main disease vocabularies and propose the exploitation of some alternative expert-curated sources to complete it. As a result, we demonstrate that this approach allows resolving more than 50% of the missing mappings for some vocabularies. All the findings are shared for validation and reuse.

bioinformatics↗

bioRxiv2018

DISNET: Disease understanding through complex networks creation and analysis

Within the global endeavour of improving population health, one major challenge is the increasingly high cost associated with drug development. Drug repositioning, i.e. finding new uses for existing drugs, is a promising alternative; yet, its effectiveness has hitherto been hindered by our limited knowledge about diseases and their relationships. In this paper we present DISNET (Drug repositioning and disease understanding through complex networks creation and analysis), a web-based system designed to extract knowledge from signs and symptoms retrieved from medical data bases, and to enable the creation of customisable disease networks. We here present the main functionalities of the DISNET system. We describe how information on diseases and their phenotypic manifestations is extracted from Wikipedia, PubMed and MayoClinic; specifically, texts from these sources are processed through a combination of text mining and natural language processing techniques. We further present a validation of the processing performed by the system; and describe, with some simple use cases, how a user can interact with it and extract information that could be used for subsequent analyses.\n\nDatabase URL: http://disnet.ctb.upm.es

bioinformatics↗

bioRxiv2018

Disease networks and their contribution to disease understanding and drug repurposing. A survey of the state of the art

Over a decade ago, a new discipline called network medicine emerged as an approach to understand human diseases from a network theory point-of-view. Disease networks proved to be an intuitive and powerful way to reveal hidden connections among apparently unconnected biomedical entities such as diseases, physiological processes, signaling pathways, and genes. One of the fields that has benefited most from this improvement is the identification of new opportunities for the use of old drugs, known as drug repurposing. The importance of drug repurposing lies in the high costs and the prolonged time from target selection to regulatory approval of traditional drug development. In this document we analyze the evolution of disease network concept during the last decade and apply a data science pipeline approach to evaluate their functional units. As a result of this analysis, we obtain a list of the most commonly used functional units and the challenges that remain to be solved. This information can be very valuable for the generation of new prediction models based on disease networks.

bioinformatics↗