Secuenciación masiva de exoma en Esclerosis Múltiple familiar
- Jorge Matías-Guiu Guía Directeur
- Jordi A. Matías-Guiu Directeur/trice
- Ulises Alfonso Gómez Pinedo Directeur/trice
Université de défendre: Universidad Complutense de Madrid
Fecha de defensa: 25 octobre 2021
- Elpidio Miguel Calvo Manuel President
- Rocío García-Ramos García Secrétaire
- Silvia Corrochano Sánchez Rapporteur
- Exuperio Díez Tejedor Rapporteur
- Jaime Masjuan Vallejo Rapporteur
Type: Thèses
Résumé
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...