By integrating RNA-sequencing with genotype data from autistic brains, the research team led by Dr. Trees-Juen Chuang’s group at Genomics Research center, Academia Sinica assessed expression quantitative trait loci of circRNAs (circQTLs) that cis-regulate expression of nearby circRNAs and trans-regulate expression of distant genes (trans-eGenes) simultaneously. The study provided the first framework for systematically investigating trans-genetic effects of circQTLs and inferring the corresponding causal relations in ASD. The identified circQTL-circRNA-trans-eGene regulatory interactions also provided a helpful dataset for further investigating causative biology and cryptic regulatory mechanisms underlying the neuropsychiatric diseases. This result was recently published in Molecular Psychiatry.

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The circles Part II: investigating causal relationship between genetic variants and circular RNA expression in autism