Publications by authors named "J Stamatoyannopoulos"
Gene regulation is essential to placental function and fetal development. We built a genome-scale transcriptional regulatory network (TRN) of the human placenta using digital genomic footprinting and transcriptomic data. We integrated 475 transcriptomes and 12 DNase hypersensitivity datasets from placental samples to globally and quantitatively map transcription factor (TF)-target gene interactions.
View Article and Find Full Text PDFThe majority of disease-associated variants identified through genome-wide association studies are located outside of protein-coding regions. Prioritizing candidate regulatory variants and gene targets to identify potential biological mechanisms for further functional experiments can be challenging. To address this challenge, we developed FORGEdb ( https://forgedb.
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- - This study identifies over 13 million interactions between transcriptional enhancers and their target genes across various cell types and tissues, which is crucial for understanding how gene regulation influences diseases.
- - Utilizing a new predictive model called ENCODE-rE2G, the researchers achieved high accuracy in predicting enhancer-gene interactions, supported by a robust dataset from CRISPR experiments and genetic mapping.
- - The findings highlight not only the role of enhancers and their contacts with promoters but also additional factors like promoter types and enhancer interactions that affect gene regulation, creating a detailed resource for future genetic research.
Complex disorders are caused by a combination of genetic, environmental and lifestyle factors, and their prevalence can vary greatly across different populations. The extent to which genetic risk, as identified by Genome Wide Association Study (GWAS), correlates to disease prevalence in different populations has not been investigated systematically. Here, we studied 14 different complex disorders and explored whether polygenic risk scores (PRS) based on current GWAS correlate to disease prevalence within Europe and around the world.
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- Tourette syndrome (TS) is a neurodevelopmental disorder that typically begins in childhood, characterized by persistent motor and vocal tics lasting over a year.
- A genome-wide meta-analysis was conducted with a total of 6,133 TS individuals and 13,565 controls, revealing a significant genetic locus on chromosome 5q15 linked to the NR2F1 gene.
- The study found connections between genetic markers and brain tissue, particularly implicating brain volume differences in areas such as the thalamus and putamen, paving the way for further research into TS neurobiology.