Reina García, Óscar (Date of defense: 2018-04-10)
We developed a computational framework implemented as an R package for generation, visualization and functional and differential analysis of epigenome maps. Methods are provided for integrating and ...
Martínez Fundichely, Alexander (Date of defense: 2013-12-12)
Within the great interest in the characterization of genomic structural variants (SVs) in the human genome, inversions present unique challenges and have been little studied. This thesis has developed ...
Rambla, Jordi (Date of defense: 2023-05-18)
The advance of precision medicine depends on the availability of data that is continuously being generated in universities, research centres and hospitals world-wide. That data represents 1) the diversity ...
Walsh Capdevila, Sandra (Date of defense: 2019-12-18)
Africa is the origin source of modern humans. Despite that African populations harbor the highest levels of genetic diversity worldwide, they remain underrepresented in genetic studies. Therefore, in ...
Spataro, Nino (Date of defense: 2016-10-26)
From Darwin’s “On the Origin of Species”, many years elapsed before human diseases were considered in an evolutionary framework. Besides theoretical and empirical advances, we are far from the complete ...
Olalde Marquínez, Íñigo (Date of defense: 2016-07-22)
The general objective of this thesis is to use ancient genomic data to study the European prehistory. Thanks to the latest advances in DNA sequencing technologies, the field of ancient DNA has suffered ...
Carvalho, Tiago Loureiro de (Date of defense: 2016-01-21)
Genetic variation in humans and the great apes has been amply explored using a wide variety of markers, among them tandem repeats (TRs). Because of the nature of TRs, highly variable in length due to ...
Hafez Khafaga, Ahmed Ibrahem (Date of defense: 2021-03-12)
Aquesta tesi presenta una sèrie de recursos bioinformàtics desenvolupats per a donar suport en l'anàlisi de dades de NGS i altres òmics en el camp d'estudi i diagnòstic d'infeccions fúngiques. Hem ...
Lorente Galdós, Maria Belén (Date of defense: 2011-11-11)
Identification of signatures of positive selection has long been a major issue for understanding the unique features of any given species. However, only a fraction of human genes have been interrogated. ...
Rubio Pérez, Carlota (Date of defense: 2017-11-28)
Cancer is a disease of the genome. The study of tumor genomic alterations is used to guide several precision medicine strategies, some approved and a large number under clinical development. On the other ...