RT Journal Article
T1 The non-coding genome in Autism Spectrum Disorders
A1 Domínguez Alonso, Sara
A1 Carracedo Álvarez, Ángel
A1 Rodríguez Fontenla, María Cristina
K1 Autism spectrum disorders (ASD)
K1 Neurodevelopmental disorders
K1 Non-coding genome
K1 Non-coding variation
K1 Gene regulation
AB Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders (NDDs) characterized by difficulties in social interaction and communication, repetitive behavior, and restricted interests. While ASD have been proven to have a strong genetic component, current research largely focuses on coding regions of the genome. However, non-coding DNA, which makes up for ∼99% of the human genome, has recently been recognized as an important contributor to the high heritability of ASD, and novel sequencing technologies have been a milestone in opening up new directions for the study of the gene regulatory networks embedded within the non-coding regions. Here, we summarize current progress on the contribution of non-coding alterations to the pathogenesis of ASD and provide an overview of existing methods allowing for the study of their functional relevance, discussing potential ways of unraveling ASD's “missing heritability”
PB Elsevier
YR 2023
FD 2023
LK http://hdl.handle.net/10347/30633
UL http://hdl.handle.net/10347/30633
LA eng
NO European Journal of Medical Genetics 66 (2023) 104752
DS Minerva
RD 24 abr 2026