Maria José Villanueva

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Using different molecular techniques, DNA has been detected in the plasma of cancer patients with various types of tumors. We undertook the present study to investigate the presence of plasma DNA, before mastectomy, in patients with breast cancer at diagnosis and to analyze the clinicopathological spectrum of this subgroup of patients with respect to(More)
Hypermethylation of exon 1 of p16INK4a was examined in tumour and plasma DNA of a series of breast cancer patients. De novo methylation was observed in the tumours of eight patients (23%), and in plasma DNA in five (14%) of these eight patients. Our data show that de novo methylation of exon 1 of p16INK4a can be demonstrated in plasma DNA of breast cancer(More)
It is widely accepted that the use of Conceptual Modeling techniques in modern Software Engineering leads to a more accurate description of the problem domain. The application of these techniques in the context of challenging domains as the human genome is a fascinating task. The relevant biological concepts should be properly addressed through the creation(More)
In Bioinformatics there is a lack of software tools that t with the requirements demanded by biologists. For instance when a DNA sample is sequenced, a lot of work must be performed manually and several tools are used. The application of Information Systems (IS) principles into the development of bioinformatic tools, opens a new interesting research path.(More)
Nowadays, the diagnosis of disease based on genomic information is feasible by searching genetic variations on DNA sequences. However, geneticists struggle with bioinformatic tools that are supposed to simplify DNA sequence analysis. As a universal tool to support every requirement is far from be implemented, geneticists themselves must solve the data(More)
Using different molecular techniques, DNA has been detected in the plasma of cancer patients with various types of tumors. We undertook the present study to investigate the presence of plasma DNA, before mastec-tomy, in patients with breast cancer at diagnosis and to analyze the clinicopathological spectrum of this subgroup of patients with respect to(More)
Geneticists that use software tools to carry out their diagnosis claim that current solutions do not fulfill completely their requirements. From an Information System perspective, this issue is a consequence of the lack of formal data descriptions, which has led to genetic repositories full of heterogeneous data and inconsistencies. Simultaneously, the same(More)
Because of the evolution of sequencing technologies, Bioinfor-matics Workflow Management Systems (BWMS) are a popular software for geneticists to describe workflows for analysing genomic data. Although these systems improve development productivity, they are far from being widely accepted by this community. The lack of rigorous conceptual modelling(More)