The human genome’s inner workings could be revealed through new Cornell-developed technology.
Researchers from Oxford Nanopore Technologies, Weill Cornell Medicine, and the New York Genome Center have created a new technique to evaluate the three-dimensional structure of the human
“Knowing the three-dimensional genome structure will help researchers better understand how the genome functions, and particularly how it encodes different cell identities,” said senior author Dr. Marcin Imieliński, associate professor of pathology and laboratory medicine and computational genomics in computational biomedicine at Weill Cornell Medicine and a core member of the New York Genome Center. “The ways that we’ve had to study genome structure have given us amazing insights, but there have also been key limitations,” he said.
For example, previous technology to examine the genome’s three-dimensional structure enabled researchers to investigate how often two loci, or physical sites on the genome, interact with one another. Traditionally, pairs of loci known as enhancers and promoters—components in the genome that interact with one another to control gene expression—have been discovered.
Information about these pairings offers incomplete insight into genome structure and function. For instance, linking a folding pattern to how the genome encodes for a specific cell identity—like a liver, lung, or epithelial cell—has been difficult, said Dr. Imieliński, who is also a member of the Englander Institute for Precision Medicine and the Sandra and Edward Meyer Cancer Center at Weill Cornell Medicine. Scientists have theorized that this folding influences gene expression. “But how cell types are encoded, particularly in the structure of DNA, has been a mystery,” he said.
Dr. Imieliski and his research team, which included first author Aditya Deshpande, a recent graduate of the Tri-Institutional Ph.D. Program in Computational Biology & Medicine who worked in Dr. Imieliski’s lab, created a new genome-wide assay and algorithm that allows them to study groups of loci rather than just pairs.
They…