Publications by authors named "S Dominguez-Alonso"
Article Synopsis
- Autism Spectrum Disorders (ASD) are neurodevelopmental disorders characterized by challenges in social interaction and communication, with strong genetic links complicating the identification of causal genes, especially since most GWAS signals are found in non-coding DNA.
- Using a new tool called eQTpLot, researchers analyzed the largest ASD GWAS to date, involving a significant number of cases and controls, to discover overlapping associations between genetic variants influencing ASD and other mental health disorders.
- This analysis identified eight genes with strong eQTL signals in ASD, particularly noting the likely causal roles of MAPT, NKX2-2, and PTPRE in brain tissue, indicating their potential significance in understanding ASD genetics.
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.
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