Genetic studies of diseases map segments of the genome driving disease. But to understand how those changes contribute to disease progression , it is important to understand how they may alter gene regulation of disease genes in cell populations assumed to be driving disease. "Enhancer-gene maps" link genomic regulatory regions to genes and are essential for understanding disease.
But constructing them poses challenges due to limitations in current experimental methods, that make it difficult to apply the technique to rare cell populations and genes that only regulate specific cell types. Researchers from Brigham and Women's Hospital, a founding member of the Mass General Brigham healthcare system, have developed a statistical method called SCENT (single-cell enhancer target gene mapping). This method uses multimodal single-cell data to establish links between regulatory elements and genes, allowing them to pinpoint probable causal gene loci for both common and rare diseases. These insights might assist the development of treatments for various conditions. The research team applied SCENT to nine multimodal single-cell datasets representing various human tissues, including immune, neuronal, and pituitary cells, aiming to understand the intricacies of DNA regulation in each specific cell typ
Source: Healthcare Press (healthcarepress.net)
Genetic Studies Disease Progression Gene Regulation Enhancer-Gene Maps Statistical Method SCENT Multimodal Single-Cell Data Causal Gene Loci Common Diseases Rare Diseases Human Tissues
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