Demidov, German (Date of defense: 2019-12-13)
Germline copy-number variants (CNVs), as well as somatic copy-number alterations (CNAs), play an important role in many phenotypic traits, including genetic diseases and cancer. Next Generation Sequencing ...
Han, Sojung (Date of defense: 2019-10-16)
Bonobos are an interesting species to study due to their unique evolutionary features such as a peaceful social nature and hypersexual behavior. The prolonged exaggerated sexual swelling in females ...
Kuderna, Lukas (Date of defense: 2020-01-24)
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 ...
Valles Ibáñez, Guillem de (Date of defense: 2016-11-16)
Human genomes have been found to harbor an unexpected number of ~100 loss-of-function (LoF) variants, with ~20 of them in an homozygous state, in most cases without a visible effect despite its potential ...
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 ...
Manuel Montero, Marc de (Date of defense: 2018-12-11)
Els nostres parents més propers, els ximpanzés i els bonobos, tenen una història demogràfica complexa. En aquest estudi, hem analitzat els genomes sencers de 75 ximpanzés i bonobos nascuts en 10 països ...
Prado Martínez, Javier (Date of defense: 2014-12-22)
Els grans simis són els nostres parents evolutius més propers i com a tals són la millor eina per entendre els nostres orígens més recents. Mitjançant la genòmica comparativa ara podem estudiar en ...
Alvarez Estapé, Marina (Date of defense: 2023-04-20)
The field of genomics can be used to help in threatened species conservation by guiding conservation efforts. In this thesis we have studied Cuvier’s gazelles to compare the genetic diversity and ...
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 ...
Serres Armero, Aitor (Date of defense: 2020-02-03)
L’estudi de la variació estructural complementa l’estudi de la variació de seqüència per revelar les complexitats de la variació fenotípica. Els gossos són l’espècie domesticada amb més variació fenotípica ...