Secuenciación masiva de exoma en Esclerosis Múltiple familiar

  1. Torre Fuentes, Laura
Supervised by:
  1. Jorge Matías-Guiu Guía Director
  2. Jordi A. Matías-Guiu Director
  3. Ulises Alfonso Gómez Pinedo Director

Defence university: Universidad Complutense de Madrid

Fecha de defensa: 25 October 2021

Committee:
  1. Elpidio Miguel Calvo Manuel Chair
  2. Rocío García-Ramos García Secretary
  3. Silvia Corrochano Sánchez Committee member
  4. Exuperio Díez Tejedor Committee member
  5. Jaime Masjuan Vallejo Committee member
Department:
  1. Medicina

Type: Thesis

Teseo: 157728 DIALNET lock_openDocta Complutense editor

Abstract

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...