Rubio Araúna, Lara (Date of defense: 2017-12-14)
North African populations show a complex genetic structure characterized by the admixture of at least four different components: Middle Eastern, sub-Saharan, European and autochthonous North African. ...
Saus Martínez, Ester (Date of defense: 2010-11-24)
In this thesis we have studied genetic elements potentially contributing to the pathophysiology of psychiatric disorders, focusing on different sources of human genome variability, including SNPs and ...
Mas Sandoval, Àlex (Date of defense: 2018-11-30)
Most of the Native American populations that lived in nowadays Eastern Brazil when the Europeans established in the area in the 16th century do not exist anymore. The colonization of Brazil implied huge ...
Meseguer Donlo, Alberto (Date of defense: 2021-07-02)
Las células de nuestro cuerpo son capaces de tener comportamientos y morfologías completamente diferentes, pese a contener el mismo material genético. Entre los mecanismos que permiten esta diversidad ...
Ruiz Arenas, Carlos (Date of defense: 2019-03-29)
Las inversiones cromosómicas son variantes estructurales donde un segmento de ADN cambia su orientación. Las inversiones cromosómicas reducen la recombinación homóloga y producen diferentes haplotipos ...
Elosua-Bayés, Marc (Date of defense: 2023-06-08)
Understanding multicellular organisms depends on the advent of technologies capable of delivering unprecedented levels of resolution. With new technologies come novel data modalities, which require ...
Karamtzioti, Paraskevi (Date of defense: 2021-02-01)
This thesis aimed to characterize the tubulin PTM profile of human oocytes and spermatozoa. Tubulin rich structures play critical roles in the cellular behavior of human gametes. Mutations in tubulin ...
García Pérez, Raquel (Date of defense: 2019-01-29)
The evolution of the human phenotype involved gene regulatory innovations. Comparative functional epigenomic studies are a powerful tool with potential to shed light on many long-standing questions ...
Domènech Salgado, Laura (Date of defense: 2018-12-20)
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) ...
Sinha, Roshani (Date of defense: 2016-12-16)
Rearrangements involving the mixed lineage leukemia gene (MLL) are found in majority of human infant leukemias (>60% of ALLs, 35% of AMLs) and are associated with dismal prognosis of these patients. ...