Secuenciación masiva de exoma en Esclerosis Múltiple familiar
- Jorge Matías-Guiu Guía Doktorvater
- Jordi A. Matías-Guiu Doktorvater/Doktormutter
- Ulises Alfonso Gómez Pinedo Doktorvater/Doktormutter
Universität der Verteidigung: Universidad Complutense de Madrid
Fecha de defensa: 25 von Oktober von 2021
- Elpidio Miguel Calvo Manuel Präsident
- Rocío García-Ramos García Sekretärin
- Silvia Corrochano Sánchez Vocal
- Exuperio Díez Tejedor Vocal
- Jaime Masjuan Vallejo Vocal
Art: Dissertation
Zusammenfassung
Multiple sclerosis (MS) is a complex and heterogeneous disease, characterized by genetics, environmental and epigenetics factors. Several genes and genetic variants involved with the risk of developing MS have been identified. The majority of this known information has been detected by genome-wide association studies (GWAS). Many of the identified variants are located in genes implicated in pathways related to innate immunity. Despite the success of GWAS, these studies have only revealed part of the genetic component of MS due to different biases involved in these studies. Whole-exome sequencing (WES) is a technique which sequences the coding region of the entire genome allowing us to improve our knowledge of genetic basis of MS...