A new AI-powered database predicts the effects of single-nucleotide changes in any of the three billion bases in human DNA...
A newly described neurodevelopmental disorder has been linked to changes in a small noncoding gene...
More than 13,000 genetic variants that alter gene activity and may contribute to complex diseases have been identified...
The children of men exposed to radiation following the Chernobyl nuclear reactor incident in 1986 show specific patterns of DNA mutations, providing evidence that radiation-induced changes in sperm can affect offspring...
A novel artificial intelligence tool has been developed to predict the molecular and regulatory effects of genetic variants relevant to health and disease...
A detailed integrated map of the human genome's 3D structure over time shows how DNA structure is linked to gene activity...
This PET event explored the impact and interplay of three major UK-based genomics and population health research initiatives. This is the first of three in a series of events exploring large-scale biomedical databases and research resources...
Single-nucleotide differences in a DNA sequence that are associated with an inherited cancer risk have been identified through a large-scale screening study...
A Position Statement has been published to describe best practice for ensuring consistent delivery of genomic testing for rare diseases...
A sequence of noncoding DNA has been shown to regulate a gene crucial for embryonic limb and heart development in mice...
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