Deciphering the non-coding genome in Autism Spectrum Disorders (ASD): in silico characterization of common, splicing and regulatory variants

• Autores: Sara Domínguez Alonso
• Directores de la Tesis: Ángel Carracedo Álvarez (dir. tes.), Cristina Rodriguez Fontenla (dir. tes.)
• Lectura: En la Universidade de Santiago de Compostela ( España ) en 2024
• Idioma: inglés
• Tribunal Calificador de la Tesis: Laura Sánchez Piñón (presid.), Borja García Bueno (secret.), Vincent Cantagrel (voc.)
• Materias:
  • Ciencias de la vida
    • Biología humana
      • Genética humana
    • Biología vegetal (botánica)
• Enlaces
  • Tesis en acceso abierto en: MINERVA
• Resumen

  • Through a combination of bioinformatics methods and diverse genetic data collections, we have uncovered insights into a broad spectrum of genetic variation. In summary, the findings from this in silico characterization of common, splicing, and regulatory variants include the identification of specific genes most likely to be affected by non-coding common variation, a deeper understanding of how splicing variation may mediate disease risk, and the establishment of a crucial role for chromatin conformation in ASD.