Publications by authors named "Junghyun Eom"
The regulatory effect of non-coding large-scale structural variations (SVs) on proto-oncogene activation remains unclear. This study investigated SV-mediated gene dysregulation by profiling 3D cancer genome maps from 40 patients with colorectal cancer (CRC). We developed a machine learning-based method for spatial characterization of the altered 3D cancer genome.
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- Parkinson's disease (PD) is a progressive neurodegenerative disorder, and understanding how different cell types contribute to its mechanisms is still a challenge.
- Researchers analyzed over 113,000 nuclei from the substantia nigra in both healthy individuals and PD patients, revealing important changes in gene regulation specific to different cell types.
- The study identified dysregulated regulatory elements and 656 target genes connected to PD, emphasizing unique expression patterns in cells like dopaminergic neurons and glial cells, which are crucial for understanding PD's development.
A large number of putative cis-regulatory sequences have been annotated in the human genome, but the genes they control remain poorly defined. To bridge this gap, we generate maps of long-range chromatin interactions centered on 18,943 well-annotated promoters for protein-coding genes in 27 human cell/tissue types. We use this information to infer the target genes of 70,329 candidate regulatory elements and suggest potential regulatory function for 27,325 noncoding sequence variants associated with 2,117 physiological traits and diseases.
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- Chromosomes in the nucleus are made of DNA and proteins, and their genetic information is encoded in linear sequences that require a 3D understanding for accurate interpretation.
- Recent advancements in technology have revealed how the 3D structure of the genome is organized and its significance for biological functions.
- Large-scale genomic variations can disrupt this chromatin structure, influencing gene regulation linked to various diseases, which is the focus of recent research on structural variations.
Three-dimensional (3D) chromatin structure is an emerging paradigm for understanding gene regulation mechanisms. Hi-C (high-throughput chromatin conformation capture), a method to detect long-range chromatin interactions, allows extensive genome-wide investigation of 3D chromatin structure. However, broad application of Hi-C data have been hindered by the level of complexity in processing Hi-C data and the large size of raw sequencing data.
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