ORCID Profile
0000-0001-8129-8352
Current Organisation
Instituto de Salud Carlos III
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Publisher: Springer Science and Business Media LLC
Date: 24-02-2015
DOI: 10.1186/2047-2501-3-S1-S5
Abstract: To describe the importance of bioinformatics tools to analyze the big data yielded from new "omics" generation-methods, with the aim of unraveling the biology of the pathogen bacteria Lactococcus garvieae . The paper provides the vision of the large volume of data generated from genome sequences, gene expression profiles by microarrays and other experimental methods that require biomedical informatics methods for management and analysis. The use of biomedical informatics methods improves the analysis of big data in order to obtain a comprehensive characterization and understanding of the biology of pathogenic organisms, such as L. garvieae . The "Big Data" concepts of high volume, veracity and variety are nowadays part of the research in microbiology associated with the use of multiple methods in the "omic" era. The use of biomedical informatics methods is a requisite necessary to improve the analysis of these data.
Publisher: Elsevier BV
Date: 02-2019
Publisher: Oxford University Press (OUP)
Date: 2020
DOI: 10.1093/BRAINCOMMS/FCAA064
Abstract: Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in C9orf72, polyglutamine expansions in ATXN2 and polyalanine expansions in NIPA1. Together with previously published data, the identification of an amyotrophic lateral sclerosis patient with a family history of spinocerebellar ataxia type 1, caused by polyglutamine expansions in ATXN1, suggested a similar disease association for the repeat expansion in ATXN1. We, therefore, performed a large-scale international study in 11 700 in iduals, in which we showed a significant association between intermediate ATXN1 repeat expansions and amyotrophic lateral sclerosis (P = 3.33 × 10−7). Subsequent functional experiments have shown that ATXN1 reduces the nucleocytoplasmic ratio of TDP-43 and enhances amyotrophic lateral sclerosis phenotypes in Drosophila, further emphasizing the role of polyglutamine repeat expansions in the pathophysiology of amyotrophic lateral sclerosis.
Publisher: Springer Berlin Heidelberg
Date: 2011
Publisher: Springer Science and Business Media LLC
Date: 07-03-2012
Publisher: Springer US
Date: 2012
Publisher: Springer Science and Business Media LLC
Date: 28-01-2022
DOI: 10.1038/S41525-021-00267-9
Abstract: There is a strong genetic contribution to Amyotrophic lateral sclerosis (ALS) risk, with heritability estimates of up to 60%. Both Mendelian and small effect variants have been identified, but in common with other conditions, such variants only explain a little of the heritability. Genomic structural variation might account for some of this otherwise unexplained heritability. We therefore investigated association between structural variation in a set of 25 ALS genes, and ALS risk and phenotype. As expected, the repeat expansion in the C9orf72 gene was identified as associated with ALS. Two other ALS-associated structural variants were identified: inversion in the VCP gene and insertion in the ERBB4 gene. All three variants were associated both with increased risk of ALS and specific phenotypic patterns of disease expression. More than 70% of people with respiratory onset ALS harboured ERBB4 insertion compared with 25% of the general population, suggesting respiratory onset ALS may be a distinct genetic subtype.
Publisher: Springer Science and Business Media LLC
Date: 03-08-2010
Publisher: Georg Thieme Verlag KG
Date: 2010
DOI: 10.3414/ME09-02-0008
Abstract: Background: Genomic technologies and particularly bioinformatics have significantly changed biomedical research along the last decade and are being recognized as potential methods for application also in medical practice and public health. There exists a growing need for different collectives of the healthcare sector to receive training in the methods, tools and databases related with these new areas. Objectives: This paper describes the teaching experience of our department during the last ten years and analyzes past activities designed for teaching bioinformatics to different groups of health professionals. We aim to illustrate the main lessons learned and offer useful clues to other groups interested in setting up training initiatives in bioinformatics for health professionals. Methods: The group selected several methodologies for the training activities (“face-to-face”, online/e-learning) on the basis of three criteria: 1) the target collective, 2) the contents of the course, and 3) its length. Courses were evaluated and the results are hereby presented and discussed. Results: National and international training courses on bioinformatics, biomedical informatics and genomics were developed according to specific requirements defined by the profile of each of the targeted health professional group. These activities provided the students with the necessary skills for better understanding the use of bioinformatics tools and databases and the appropriate way of applying them into specific health domains. Conclusions: The increasing demand of training courses in new technologies related to genomics and bioinformatics by health professionals provides a good opportunity for the development of tailored courses based on their specific needs, expectations and demands geared to bridge the gap between research and practice and facilitating their everyday work.
Location: No location found
Location: Spain
No related grants have been discovered for Victoria López Alonso.