Massively parallel screen pins down regulatory variants behind neurodevelopmental disorders
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A study posted as a preprint used a massively parallel reporter assay to test 727 non-coding variants linked to neurodevelopmental disorders in human neural progenitor cells. Of these, 38 showed regulatory activity, altering expression and predicted to disrupt transcription factor binding motifs. By combining eQTL data, activity-by-contact models, and CROP-seq perturbations in human stem cell-derived neurons, the researchers mapped these variants to candidate target genes, which were enriched in developmentally regulated programs including neuronal connectivity, synaptic function, and mitochondrial biology. The work was posted to bioRxiv on 22 October 2026 and has not yet undergone peer review; follow-up validation of the candidate target genes and their mechanistic roles remains open.
Written by a model from the reports · updated 2 hours ago
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- biorxiv.orgPickSystematic Functional Interrogation of Neurodevelopmental Disorder Risk Variants
The study used MPRA to test 727 neurodevelopmental disorder-associated non-coding variants in human neural progenitor cells, identifying 38 emVars with regulatory activity. These emVars were predicted to alter transcription factor binding motifs, and combining eQTL, ABC models, and CROP-seq perturbation in human stem cell-derived neurons mapped variants to candidate target genes, showing enrichment in developmentally regulated programs including neuronal connectivity, synaptic function, and mitochondrial biology.
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