Massive map links human DNA switches to their target genes
Gschwind AR, Mualim KS, Karbalayghareh A, Sheth MU, Dey KK
Crispr
This study focuses entirely on human genetics and gene regulation, so it has no direct connection to gardening, plants, or the natural world a plant enthusiast might explore.
Researchers created a giant reference map showing how switches in human DNA, called enhancers, turn nearby genes on or off across hundreds of different cell and tissue types. They tested their prediction model against real lab experiments and used it to better understand how genetic differences between people might lead to disease.
Key Findings
Created a resource of over 92 million enhancer-gene interactions across 1,458 biosamples covering 369 cell types and tissues
Developed ENCODE-rE2G, a predictive model benchmarked against 10,356 CRISPR-tested element-gene pairs, 30,000+ eQTLs, and 569 GWAS variants
Identified promoter class and enhancer-enhancer synergy as key features guiding enhancer-promoter communication, beyond just activity and 3D contacts
chevron_right Technical Summary
Scientists built a massive map of over 92 million connections between human DNA switches (enhancers) and the genes they control, using data from nearly 1,500 tissue and cell samples. This resource helps researchers pinpoint which genes are affected by disease-linked genetic variants.
Abstract Preview
Original paper
An encyclopedia of human enhancer-gene regulatory interactions.
Identifying transcriptional enhancers and their target genes is essential for understanding gene regulation and the effect of human genetic variation on disease1-6. Here we create and evaluate a re...
open_in_new Read full abstractAbstract copyright held by the original publisher.
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