Domínguez Alonso, SaraCarracedo Álvarez, ÁngelRodríguez Fontenla, María Cristina2023-05-312023-05-312023European Journal of Medical Genetics 66 (2023) 104752http://hdl.handle.net/10347/30633Autism 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”eng© 2023 The Authors. Published by Elsevier Masson SAS. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)http://creativecommons.org/licenses/by-nc-nd/4.0/Autism spectrum disorders (ASD)Neurodevelopmental disordersNon-coding genomeNon-coding variationGene regulationjournal article10.1016/j.ejmg.2023.1047521769-7212open access