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Google DeepMind has launched AlphaGenome, a new deep learning framework designed to predict the regulatory consequences of DNA sequence variations. This AI model aims to decode how mutations affect non-coding DNA, which makes up 98% of the human genome, potentially transforming the understanding of diseases. AlphaGenome processes up to one million base pairs of DNA at once, delivering predictions on gene expression, splicing, chromatin accessibility, transcription factor binding, and 3D genome structure.
AlphaGenome stands out by comprehensively predicting the impact of single variants or mutations, especially in non-coding regions, on gene regulation. It uses a hybrid neural network that combines convolutional layers and transformers to digest long DNA sequences. The model addresses limitations in earlier models by bridging the gap between long-sequence input processing and nucleotide-level output precision, unifying predictive tasks across 11 output modalities and handling thousands of human and mouse genomic tracks. This makes AlphaGenome one of the most comprehensive sequence-to-function models in genomics.
The AI tool is available via API for non-commercial research to advance scientific research and is planned to be released to the general public in the future. In performance tests, AlphaGenome outperformed or matched the best external models on 24 out of 26 variant effect prediction benchmarks. According to DeepMind's Vice President for Research Pushmeet Kohli, AlphaGenome unifies many different challenges that come with understanding the genome. The model can help researchers identify disease-causing variants and better understand genome function and disease biology, potentially driving new biological discoveries and the development of new treatments.
References :
AlphaGenome stands out by comprehensively predicting the impact of single variants or mutations, especially in non-coding regions, on gene regulation. It uses a hybrid neural network that combines convolutional layers and transformers to digest long DNA sequences. The model addresses limitations in earlier models by bridging the gap between long-sequence input processing and nucleotide-level output precision, unifying predictive tasks across 11 output modalities and handling thousands of human and mouse genomic tracks. This makes AlphaGenome one of the most comprehensive sequence-to-function models in genomics.
The AI tool is available via API for non-commercial research to advance scientific research and is planned to be released to the general public in the future. In performance tests, AlphaGenome outperformed or matched the best external models on 24 out of 26 variant effect prediction benchmarks. According to DeepMind's Vice President for Research Pushmeet Kohli, AlphaGenome unifies many different challenges that come with understanding the genome. The model can help researchers identify disease-causing variants and better understand genome function and disease biology, potentially driving new biological discoveries and the development of new treatments.
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References :
- Maginative: DeepMind’s AlphaGenome AI model decodes how mutations affect non-coding DNA, potentially transforming our understanding of disease.
- MarkTechPost: Google DeepMind has unveiled AlphaGenome, a new deep learning framework designed to predict the regulatory consequences of DNA sequence variations across a wide spectrum of biological modalities.
- Google DeepMind Blog: Introducing a new, unifying DNA sequence model that advances regulatory variant-effect prediction and promises to shed new light on genome function — now available via API.