Article

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.

2026-02-13

Abstract excerpt

<title>Abstract</title> <p> 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...

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Literature Corpus work: b9aebc73-d15d-5c70-9d0d-14855f03e4cc
DOI: 10.21203/rs.3.rs-8374597/v1

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