"Called AlphaGenome, the model could help scientists discover why subtle differences in our DNA put us at risk of conditions such as high blood pressure, dementia and obesity. It could also dramatically accelerate our understanding of genetic diseases and cancer. The developers of the model acknowledge it's not perfect, but experts have described it as "an incredible feat" and "a major milestone"."
"The human genome is made up of three billion letters of DNA code represented by the letters A,C,G and T. Around 2% of it are genes which code for all the proteins the body needs to grow and function. The remaining 98%, which is less well understood, is labelled the 'dark genome'. It plays a crucial role in organising how genes are used in the body and is where many mutations linked to disease are found."
AlphaGenome is an AI model that can analyse up to one million letters of DNA at a time and predict gene locations, the influence of non-coding regions, and effects of single-letter mutations. The model can identify how the 'dark genome' affects gene expression and RNA splicing to produce different proteins. The human genome contains about three billion DNA letters, with roughly 2% coding for proteins and 98% comprising regulatory 'dark genome' regions that organize gene usage and harbor many disease-linked mutations. AlphaGenome could accelerate understanding of genetic diseases, cancer, and why DNA differences raise risk for conditions like high blood pressure, dementia, and obesity. The model is not perfect but shows potential to pinpoint causes of rare genetic diseases.
Read at www.bbc.com
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