This Collection supports and amplifies research related to SDG 3: Good Health & Wellbeing. The human genome is a vast landscape, with less than 2% of its sequence encoding proteins. For many years, ...

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 ...

In recent years, the development of large-scale sequencing projects has identified numerous genomic variants in the human genome. For instance, the NyuWa genome resource (Cell Reports, 2021), led by ...

Researchers have successfully employed an algorithm to identify potential mutations which increase disease risk in the noncoding regions our DNA, which make up the vast majority of the human genome.

New insights into how genetic variants in noncoding regions of the genome can contribute to disease risk by disrupting transcription factor (TF) binding have been uncovered. Footprint quantitative ...

Sequencing nearly half a million genomes, researchers show that most additive genetic influences on height, lipids, and other complex traits are now directly measurable, while pinpointing ultra-rare ...

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 ...

In RNA molecules, the 5′ untranslated region (UTR) is located directly upstream of the start codon and plays a crucial role in post-transcriptional regulation by controlling RNA stability, cellular ...

Each cell in the body is like a miniscule bowl of genetic soup, holding RNA from thousands of genes. But unlike an actual bowl of soup, which can forgive a little too much or not enough of certain ...

The non-coding genome, once dismissed as "junk DNA", is now recognized as a fundamental regulator of gene expression and a key player in understanding complex diseases. Following the landmark ...

A new multi-omics approach to unpicking how noncoding gene variants influence the development of common chronic diseases has identified tens of thousands of instances where variants have an impact on ...