A massive genomics effort has identified thousands of single nucleotide non-coding variants, which alter gene activity, that link to disease and health.

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 screened more than 220,000 single-letter DNA changes, identifying thousands that regulate gene activity in brain, ...

Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.

Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...

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 ...

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 ...

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 ...

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 ...

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 ...