Universitat Pompeu Fabra
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To date, very little progress has been made towards elucidating the genetic causes of obsessive-compulsive disorder (OCD). In this project we have performed rare variant association study (RVAS) transcriptomics and ...
The evolutionary history of the human genome has been shaped by the selection of multiple elements in response to different environmental pressures. The analysis of regulatory adaptations and the particularities of sexual ...
We have developed an efficient and reproducible pipeline for the identification of genetic variants affecting splicing (splicing quantitative trait loci or sQTLs), based on an approach that captures the intrinsically ...
Phototransduction is the biochemical process by which a light stimulus is converted to a neuronal signal. The process functions through complex interactions between many proteins, which work in concert to tightly control ...
Esta tesis revela la regulación transcripcional del gen gap giant (gt) en el embrión blastodermal de Drosophila por ingeniería inversa: un modelo matemático infiere los mecanismos subyacentes de datos cuantitativos de ...
Although universal and unavoidable, aging does not occur in a uniform way. In this dissertation, we assessed the effects of early life exposure to pro-inflammatory risk factors (air pollution and obesity) on mitochondrial ...
microRNAs are small non-coding RNAs with crucial roles in gene regulation and whose contribution to animal evolution has been largely demonstrated. In this thesis we explored some functional consequences of microRNA sequence ...
Gene regulation orchestrates the development of different cell types and organs from the same genetic blueprint. While the basic mode of gene regulation is driven by transcription factors, there are a variety of other ...
Until relatively recently, many groups of terrestrial reptiles were considered to contain only few species vastly distributed across the Arabian Peninsula. This was mostly the result of the apparent morphological uniformity ...
The aim of this thesis is to apply Identity by Descent (IBD) methodology to identify ancestry connections among individuals from genetically similar populations. Recombination events diminish the likelihood to detect IBDs. ...
New approaches are needed to manage and analyze the enormous quantity of biological data generated by modern technologies. Existing solutions are often fragmented and uncoordinated and, thus, they require considerable ...
We have investigated genetic variation in microRNA-mediated regulation as a susceptibility factor for anxiety disorders following two different approaches. We first studied two isoforms of the candidate gene NTRK3 by ...
Natural selection has played an important role in shaping human genetic variation, thus, finding variants that have been targeted by positive selection can provide insights about which genes influence human phenotypic ...
Phylogenomics is a biological discipline which can be understood as the intersection of the fields of genomics and evolution. Its main focuses are the analyses of genomes through the evolutionary lens and the understanding ...
Williams-Beuren syndrome is a neurocognitive disorder with multisystemic manifestations of variable expressivity caused by a 1.55-1.83 Mb at chromosomal band 7q11.23. In this thesis project we have characterized the 7q11.23 ...
Imaging Genetics (IG) aims to test how genetic information influences brain structure and function, cognitive processes and complex neurodevelopmental domains, combining magnetic resonance imaging-based brain features and ...
El trabajo realizado trata de estudiar la diversidad del genoma mitocondrial humano en poblaciones humanas de diferentes áreas geográficas que habían sido hasta ahora poco o nada estudiadas. Los grupos de poblaciones humanos ...
Aquest treball és una contribució als estudis de diversitat del genoma humà i pretén estudiar la variació genètica existent a nivell mundial en dos gens, causants de malaltia, el gen CFTR i el gen GBA, en cromosomes ...
Significant advances were performed in mapping and characterizing different types of structural variation in the human genome such as point mutations, insertions, deletions, etc. Nevertheless, there is still an important ...
Genomic analyses are at the center of contemporary biology. These studies heavily rely on reference genome assemblies, yet those are typically highly fragmented. Having accurate representations of complex genomes, or parts ...
