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 ...
Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health traits. By probing regions of DNA previously linked to disease, the work has ...
Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.
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 ...
Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...
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 ...
An exome-wide association study of nearly 38,000 smokers from the Mexico City Prospective Study identified rare coding ...
A new study details the discovery of rare gene variants that increase the prevalence of Type 2 diabetes in multiple generations of Asian Indian people. The unusual finding is a step toward more ...
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