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 ...
A massive genomics effort has identified thousands of single nucleotide non-coding variants, which alter gene activity, that link to disease and health.
Researchers screened more than 220,000 single-letter DNA changes, identifying thousands that regulate gene activity in brain, liver, and blood cells. The work sharpens disease risk prediction and ...
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 ...
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 ...
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Could a rare gene variant help reduce smoking? New study suggests it might
By Hugo Francisco de Souza Rare genetic variants in a little-studied nicotine receptor subunit are linked to markedly lower ...
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