A massive genomics effort has identified thousands of single nucleotide non-coding variants, which alter gene activity, that link to disease and health.
Scientists have identified how specific genetic changes function in cells to influence disease risk and other human health ...
Rapidly testing hundreds of thousands of DNA sequences, scientists identified specific genetic variations contributing to blood pressure, cholesterol, and blood sugar.
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 ...
Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...
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 ...
For many years, scientists have known that genetic variants, or differences in DNA code across people, play some role in neurological and psychiatric disorders. But the details were murky. Now, ...
An exome-wide association study of nearly 38,000 smokers from the Mexico City Prospective Study identified rare coding ...
Retinitis pigmentosa (RP) is a genetic eye disorder affecting around one in 5,000 people worldwide. It typically begins with night blindness in youth and progresses to tunnel vision as ...
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