Medical Xpress

Algorithm pinpoints potential disease-causing variants in non-coding regions of human genome

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully employed an algorithm to identify ...
Fred Hutch

Shifting the spotlight away from coding regions uncovers that 3’UTR mutations may contribute to cellular oncogenicity and poor patient prognosis in advanced stage prostate cancer

When it comes to identifying cancer-driving mutations, research has focused almost exclusively on understanding how mutations in the coding region of genes may alter a protein’s function to promote ...
News Medical

Groundbreaking 'Gnocchi' map reveals hidden secrets of the human genome

In a recent study published in Nature, researchers in the United States aggregated and processed 76,156 human genomes to construct a genomic constraint map named "genomic non-coding constraint of ...
EurekAlert!

CHOP, Penn Medicine researchers use deep learning algorithm to pinpoint potential disease-causing variants in non-coding regions of the human genome

Philadelphia, April 17, 2025 – Researchers from Children’s Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania (Penn Medicine) have successfully ...