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Mostrando ítems 1-20 de 78

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Analysis of the mitochondrial DNA of Schizophrenia patients by next generation sequencing

Rodríguez Balada, Marta (01-2014)

Mitochondrial DNA (mtDNA), a maternally inherited 16.6-Kb molecule crucial for energy production, is implicated in numerous human traits and disorders. It has been hypothesized that the presence of mutations ...
Gene Set Analysis for improving genetic association studies

Vilor Tejedor, Natàlia (01-2014)

Introduction. Genetic epidemiology is focused on the study of the genetic causes that determine health and diseases in populations. To achieve this goal a common strategy is to explore differences in genetic variability ...
Computational toolbox towards evolutionary domain mapping of membrane proteins

Crespi i Boixader, Alba (01-2014)

Membrane proteins account for about 20% to 30% of all proteins encoded in a typical genome. They play central roles in multiple cellular processes mediating the interaction of the cell with its surrounding. Over 60% of ...
Clopidogrel Pharmacogenetics, resistance to antiplatelet therapy in ischemic stroke by Epigenome Wide Association Study (EWAS).

Gallego Fàbrega, Cristina (03-2014)

Clopidogrel is a widely used antiplatelet drug used in preventing vascular events after suffering a first stoke. Genome-wide association studies (GWAS) has not been able to establish a clear association between polymorphisms ...
Long-term health risks of hyperinsulinaemic androgen excess appear in adolescence with serum markers of oxidative stress and impaired HDL maturation through oxidation of methionine residues in apolipoprotein A1

Samino Gené, Sara (09-2014)
Integrating quantitative proteomics and metabolomics in a cellular model of diabetic retinopathy

Capellades Tomàs, Jordi (09-2014)

Diabetic retinopathy is the leading cause of visual loss in individuals under the age of 55. Most investigations into the pathogenesis of diabetic retinopathy have been concentrated on the neural retina since this is where ...
Study of tergal glands morphogenesis through an integrative analysis of genomic data

Ylla Bou, Guillem (09-2014)

About 50% of living species are holometabolan insects. Therefore, unraveling the ori- gin of insect metamorphosis from the hemimetabolan (gradual metamorphosis) to the holometabolan (sudden metamorphosis at the end of ...
Finding and characterizing Partially Methylated Domains in human haematopoietic cells

Duran Ferrer, Martí (09-2014)

DNA cytosine methylation has been demonstrated to be a central epigenetic modification that has essential roles in a myriad of cellular processes. Some examples of these include gene regulation, DNA-protein interactions, ...
Copy number variations of colorectal cancer by whole exome sequencing data

Corraliza Márquez, Ana Maria (09-2014)

Colorectal cancer (CRC) is the third most common cancer and the fourth leading cause of cancer death worldwide. About 85% of the cases of CRC are known to have chromosomal instability, an allelic imbalance at several ...
Identification of molecular subtypes and gene expression patterns of breast cancer analysing RNA-seq data

Piqué Borràs, Maria Riera (09-2014)

Breast cancer is the most common diagnosed cancer and the leading cause of cancer death among females worldwide. It is considered a highly heterogeneous disease and it must be classified into more homogeneous groups. Hence, ...
Bioinformatics Pipeline for Next Generation Sequencing Analysis in Association Studies of Idiopathic Pulmonary Fibrosis

Lorenzo Salazar, José Miguel (09-2015)

A complete bioinformatics pipeline for Next Generation Sequencing (NGS) analysis has been developed and applied to study the association of called variants with susceptibility in Idiopathic Pulmonary Fibrosis (IPF). This ...
Methylation Data Analysis Associated with Alzheimer’s Disease

Mosquera, José Luis (09-2015)

Alzheimer disease (AD) is associated with distinctive changes in DNA methylation patterns. DNA methylation is a chemical modification that is involved in gene silencing. These modifications give rise to heritable changes ...
Identification of chromosomal rearrangements in colorectal cancer

Moratalla Navarro, Ferran (09-2015)

Cancer research is continuously shedding light into these worldwide leading diseases. It is mandatory to have higher knowledge in cancer biology to consequently find out new candidate biomarkers and therapeutics. Among all ...
Evaluation of the performance of commonly applied global ancestry algorithms in complex spatial demographic scenarios

Roig Aubeso, Roger (09-2016)

The development of new methods for inferring ancestral origins in human populations has atracted a renewed interest for human population geneticists for better understanding recent human evolutonary history or for ...
Association between polymorphic inversions and miRNA in cancer data

Ramírez Priego, Patricia (09-2016)

Inversion polymorphisms is a mechanism that involves a change in the orientation of a DNA segment within a chromosome, but there is still a lack of their association with disease. However, recently developed computational ...
Epigenomic data integration for characterization of promoter regions

Garcia Mulero, Sandra (19-09-2016)

Understanding the regulatory machinery is one of the current challenges for research in cancer epigenomics. Regulation of gene expression is a complex process with many components involved in it such as histone ...
Gene expression network in PiZZ Alpha1 Antitrypsin Deficiency and its impact on the disease evolution

Esquinas, Cristina (19-09-2016)

Introduction Chronic obstructive pulmonary disease (COPD) is a complex disease with both genetic and environmental determinants, the most important of which is cigarette smoking. However, genetic variations like severe ...
Exploring HLA class II allele associations with markers of HIV control

Oriol Tordera, Bruna (19-09-2016)

Among HIV seropositive individuals, the progression of the HIV-related disease is quite heterogeneous, partially due to the genetic background of the patients. Different host genetic factors have been statistically ...
Evolutionary analyses of gene by environment variants associated to body shape in human populations

Cadenas Sevilla, Beatriz (19-09-2016)

Obesity and body fat distribution is a complex phenotype highly heritable. Genetic variants showing association with BMI, a measure of body size, or waist-to-hip ratio adjusted for BMI (WHRadjBMI ), a measure of body ...
Genome-wide DNA methylation association study of predominant breastfeeding

Ruiz Rodríguez, José Luis (19-09-2016)

Introduction: Breastfeeding is considered a healthy habit with clear benefits at population level. It has been associated with lower risk of infections, asthma, obesity, diabetes or malocclusion, with increased survival, ...

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