RT Dissertation/Thesis
T1 Deciphering the non-coding genome in Autism Spectrum Disorders (ASD): in silico characterization of common, splicing and regulatory variants
A1 Domínguez Alonso, Sara
K1 Autism Spectrum Disorders (ASD)
K1 non-coding genome
K1 expression quantitative trait loci (eQTL) colocalization
K1 alternative splicing (AS)
K1 cis regulatory elements (CRE)
AB Through a combination of bioinformatics methods and diversegenetic data collections, we have uncovered insights intoa broad spectrum of genetic variation. In summary, the findingsfrom this in silico characterization of common, splicing,and regulatory variants include the identification of specificgenes most likely to be affected by non-coding commonvariation, a deeper understanding of how splicing variation maymediate disease risk, and the establishment of a crucialrole for chromatin conformation in ASD.
YR 2024
FD 2024
LK http://hdl.handle.net/10347/34456
UL http://hdl.handle.net/10347/34456
LA eng
DS Minerva
RD 23 abr 2026