ArticleResearch square2026
Large-scale sequencing study of de novo regulatory Tandem Repeats (TRs) identifies new ASD (Autism Spectrum Disorders) candidate genes integrating gene expression mapping, brain scRNA-seq and organoid models.
Article in Research square, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Authors and funding
7 authors.
Funding
Abstract
In this study, we performed an integrative analysis of de novo tandem repeats (TRs) to unravel the missing heritability that may be hidden in 85,394 active cis-regulatory elements (cCREs) from ENCODE through target sequencing in a Spanish cohort of 200 ASD trios, using a robust bioinformatic pipeline. For the integrative analysis, we use data from 1,637 ASD simplex quad families from the Simons Simplex Collection (SSC). We then incorporated multiple layers of functional annotation, including predicted transcription factor (TF) binding sites, gene mapping based on physical proximity and expression correlation, pathogenicity scoring, single-cell RNA-seq data from human brain in ASD cases and controls and cortical organoid expression data. Together, our analyses identified multiple ASD-relevant candidate genes supported by convergent lines of evidence. Notably,
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Registered trials
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