Google unveils AlphaGenome Atlas mapping DNA mutation effects By Investing.com

Investing.com - Google released AlphaGenome Atlas on Tuesday, a database that predicts the effects of every possible single nucleotide variant in the human genome. The company used its AlphaGenome AI model to pre-calculate the regulatory impact of all 9 billion single-letter genetic changes, creating a 1-petabyte dataset. The human genome contains approximately 3 billion base pairs of DNA, with scientists understanding the 2% that codes for proteins relatively well but having limited knowledge of the remaining 98%. AlphaGenome Atlas addresses this gap by cataloging how genetic mutations affect molecular biology across both coding and non-coding DNA regions. The Atlas introduces the AlphaGenome Variant Impact score, which combines predictions for coding and non-coding regions. The score allows researchers to prioritize research avenues without reviewing thousands of data points. At the Broad Institute, Laura Covill and her team used the score to prioritize variants for rare disease research, identifying a critical variant in the DNM1 gene that created an incorrect splice site. Dr. Gareth Hawkes applied the Atlas to data from over 54,000 UK Biobank participants, uncovering 22% more non-coding genetic associations and identifying 19 genetic regions linked to body mass index. Google made AlphaGenome Atlas available through a website portal that requires no coding skills. The company said the tool is part of its commitment to accelerate genomic discovery and science. This article was generated with the support of AI and reviewed by an editor. For more information see our T&C.