Solís Moruno, Manuel (Date of defense: 2021-09-14)
Autoinflammatory diseases are caused by an antigen independent hyperactivation of inflammatory pathways. The first genetic defect linked to an autoinflammatory disease was described almost 25 years ago ...
Hernando Herráez, Irene (Date of defense: 2015-07-24)
DNA methylation is a crucial epigenetic modification involved in numerous biological processes. However, despite its functional importance, the evolutionary history of this modification and the mechanisms ...
Batlle Masó, Laura (Date of defense: 2021-03-02)
Des de l’aparició de les eines de seqüenciació genòmica, el genoma humà s’ha explorat per a trobar variants causants de malaltia. Les malalties són diverses, i conseqüentment, també ho són les seves ...
Hernández Rodríguez, Jéssica (Date of defense: 2018-06-08)
The innovation of genomics has progressed at pace with the development of high-throughput DNA sequencing technologies. Prior to the outbreak of next-generation sequencing, retrieving genetic information ...