Secuenciación masiva de exoma en Esclerosis Múltiple familiar

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

Defentsa unibertsitatea: Universidad Complutense de Madrid

Fecha de defensa: 2021(e)ko urria-(a)k 25

Epaimahaia:
  1. Elpidio Miguel Calvo Manuel Presidentea
  2. Rocío García-Ramos García Idazkaria
  3. Silvia Corrochano Sánchez Kidea
  4. Exuperio Díez Tejedor Kidea
  5. Jaime Masjuan Vallejo Kidea
Saila:
  1. Medicina

Mota: Tesia

Teseo: 157728 DIALNET lock_openDocta Complutense editor

Laburpena

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...