By Hugo Francisco de Souza Rare genetic variants in a little-studied nicotine receptor subunit are linked to markedly lower ...

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 ...

Using an advanced artificial intelligence tool, researchers have identified rare coding variants in 17 genes that shed light on the molecular basis of coronary artery disease (CAD), the leading cause ...

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 ...

Scientists have long suspected connections between heredity and disease, dating back to Hippocrates, who observed certain diseases "ran in families." However, through the years, scientists have kept ...

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 ...

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 ...

In a recent study published in the journal Scientific Reports, researchers analyzed whole-exome genetic data from more than 2,000 Ashkenazi Jewish centenarians and their relatives to investigate ...

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 ...