For decades, biologists have known that the instructions for life are written in DNA, yet the vast majority of those letters seemed to sit in the dark, doing little that was obvious. Now a new ...

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 ...

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 ...

For many years, scientists have known that genetic variants, or differences in DNA code across people, play some role in neurological and psychiatric disorders. But the details were murky. Now, ...

Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with night blindness in youth and progresses to tunnel vision as ...

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 referred to as "junk DNA," is now understood to be a fundamental regulator of gene expression and a key factor in understanding complex diseases. Image credit: ...

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 ...

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 ...