Secuenciación masiva de exoma en Esclerosis Múltiple familiar

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

Universidade de defensa: Universidad Complutense de Madrid

Fecha de defensa: 25 de outubro de 2021

Tribunal:
  1. Elpidio Miguel Calvo Manuel Presidente
  2. Rocío García-Ramos García Secretaria
  3. Silvia Corrochano Sánchez Vogal
  4. Exuperio Díez Tejedor Vogal
  5. Jaime Masjuan Vallejo Vogal
Departamento:
  1. Medicina

Tipo: Tese

Teseo: 157728 DIALNET lock_openDocta Complutense editor

Resumo

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...