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 ...
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 ...
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 ...
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 ...
Three studies published in Nature Genetics look at the identification of a common recessive neurodevelopmental disorder (NDD).
Background Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the ...
Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...
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 ...
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 ...
Some results have been hidden because they may be inaccessible to you
Show inaccessible results