Browsing by Subject "Genètica"
Now showing items 1-20 of 72
-
3D lineage-specific genome architecture links regulatory elements and non-coding disease variants to target gene promoters
(Barcelona Supercomputing Center, 2018)
Conference report
Open Access -
A body mass index-based mathematical model on not frequently collected data: the case of Chile
(Universitat Politècnica de Catalunya / Universitat de Barcelona, 2021-01)
Master thesis
Restricted access - confidentiality agreement
Covenantee: Universidad de Santiago de ChileThe nutritional status is generally measured by body mass index (BMI) being obese, one of the most important non-communicable diseases, a risk factor whose estimation is especially relevant for the development of future ... -
A catalogue of 863 Rett-syndrome-causing MECP2 mutations and lessons learned from data integration
(Springer Nature, 2021)
Article
Open AccessRett syndrome (RTT) is a rare neurological disorder mostly caused by a genetic variation in MECP2. Making new MECP2 variants and the related phenotypes available provides data for better understanding of disease mechanisms ... -
A Compositional Approach to Allele Sharing Analysis
(Springer, 2016)
Part of book or chapter of book
Restricted access - publisher's policyRelatedness is of great interest in population-based genetic association studies. These studies search for genetic factors related to disease. Many statistical methods used in population-based genetic association studies ... -
A log-ratio biplot approach for exploring genetic relatedness based on identity by state
(2019-04-24)
Article
Open AccessThe detection of cryptic relatedness in large population-based cohorts is of great importance in genome research. The usual approach for detecting closely related individuals is to plot allele sharing statistics, based on ... -
A Mathematical model of the spread of two viral sub-types on a Plant Leaf (Numerical Simulation)
(Universitat Politècnica de Catalunya, 2015-06)
Master thesis
Restricted access - author's decisionWhilst in humans free virus particles and host cells are assumed to be homogenously mixed, in plants, the spatial component is a key factor. The natural proliferation of the virus through a plant is known to happen from a ... -
A new phylogenetic reconstruction method based on invariants
(2005)
Article
Open AccessAn attempt to use phylogenetic invariants for tree reconstruction was made at the end of the 80s and the beginning of the 90s by several authors (the initial idea due to Lake [Lake, 1987] and Cavender and Felsenstein [Cavender ... -
Algebraic methods in phylogenetics
(2018-12-19)
Article
Open AccessTo those outside the field, and even to some focused on empirical applications, phylogenetics may appear to have little to do with algebra. Probability and statistics are clearly important ingredients, as modeling and ... -
Algorismes genètics aplicats a ciències de la vida
(Universitat Politècnica de Catalunya, 2010-01-27)
Master thesis (pre-Bologna period)
Open Access -
Ampliación de un modelo de Markov para evaluar estrategias de prevención de enfermedades relacionadas con el VPH
(Universitat Politècnica de Catalunya / Universitat de Barcelona, 2020-01)
Master thesis
Restricted access - author's decision
Covenantee: Institut Català d'OncologiaActualmente, el Virus del Papiloma Humano (VPH) es la infección de transmisión sexual más común que existe. La persistencia de este puede provocar distintos cánceres, siendo el más común el cáncer cervical. El objetivo de ... -
Analysis of clinical diagnostics in human genetics with semantic similarity searches in ontologies
(Universitat Politècnica de Catalunya, 2022-07-05)
Master thesis
Open AccessThis thesis is focused on the analysis of the results of the paper KÖHLER, Sebastian, et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies(1) and the improvement of them. The ... -
Analysis of transposon dynamics in Prunus species using a pangenome approach
(Universitat Politècnica de Catalunya, 2021-09-02)
Bachelor thesis
Open Access
Covenantee: Centre for Research in Agricultural GenomicsTransposable elements (TEs) are repetitive DNA sequences found in all prokaryotic and eukaryotic organisms. They are able to move from one genome location to another and replicate in the genome, producing mutations and ... -
Análisis molecular de mutaciones en proteinas de células fotorreceptoras asociadas a retinosis pigmentaria
(ICM, 2002-12)
Article
Open Access -
Ankle sprain versus muscle strain injury in professional men's basketball: a 9-year prospective follow-up study
(2019-06-11)
Article
Open Access -
Aplicació d'eines d'anàlisi massiu de dades a l'estudi genètic de malalties complexes
(Universitat Politècnica de Catalunya, 2020-06)
Bachelor thesis
Restricted access - confidentiality agreement -
Applications of the Sinkhorn-Knopp algorithm for phylogenetic inference
(Universitat Politècnica de Catalunya, 2016-01)
Master thesis
Open AccessEn aquest treball s'estudia l'algorisme de Sinkhorn-Knopp i les seves aplicacions pel disseny de mètodes de reconstrucció filogenètica. Es dissenyen tres mètodes filogenètics ("Crossing", "$\delta$-crossing$ i Dist-crossing) ... -
Comparison of Tree-Child Phylogenetic Networks
(2009-11-03)
Article
Open AccessPhylogenetic networks are a generalization of phylogenetic trees that allow for the representation of nontreelike evolutionary events, like recombination, hybridization, or lateral gene transfer. While much progress has ... -
Computational analysis of sense-antisense chimeric transcripts reveals their potential regulatory features and the landscape of expression in human cells
(Oxford University Press, 2021-08)
Article
Open AccessMany human genes are transcribed from both strands and produce sense-antisense gene pairs. Sense-antisense (SAS) chimeric transcripts are produced upon the coalescing of exons/introns from both sense and antisense transcripts ... -
Determinació de l'efecte genètic i ambiental de la nova varietat d'Espigall del Garraf
(Universitat Politècnica de Catalunya, 2019-07-11)
Bachelor thesis
Open Access
Covenantee: Fundació Miquel AgustíThe broccoli or ‘espigall’ (Brassica oleracea L.) is a traditional variety of Catalonia, historically cultivated, especially in the Garraf and El Vallès area. It is a variety of cabbage selected in the past, which is mainly ... -
DGLinker: flexible knowledge-graph prediction of disease–gene associations
(Oxford University Press, 2021)
Article
Open AccessAs a result of the advent of high-throughput technologies, there has been rapid progress in our understanding of the genetics underlying biological processes. However, despite such advances, the genetic landscape of human ...
