Variants in a nicotine receptor gene are associated with a lower likelihood of heavy smoking, according to a study published ...
Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...
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 ...
EMBL scientists created SDR-seq, a tool for single-cell DNA-RNA-sequencing that studies both DNA and RNA simultaneously, linking coding and non-coding genetic variants to gene expression in the same ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...