量子位·2025-06-26 14:11Core Viewpoint - Google DeepMind has introduced a groundbreaking biological model, AlphaGenome, which can accurately predict genomic sequence variations in just one second, marking a significant advancement in the field of genomics [3][2]. Group 1: Model Capabilities - AlphaGenome can predict thousands of functional genomic features from DNA sequences up to 1 million base pairs long, assessing variation effects with single-base resolution [4][5]. - The model outperforms existing models across various tasks, providing a powerful tool for deciphering genomic regulatory codes [5][8]. - It is described as a milestone in biology, being the first unified model that integrates a wide range of genomic tasks with high accuracy and performance [7][10]. Group 2: Model Architecture - The architecture of AlphaGenome is inspired by U-Net, processing 1 million base pairs of DNA input sequences through downsampling to generate two types of sequence representations [13]. - It employs convolutional layers for local sequence pattern modeling and Transformer blocks for modeling longer-range dependencies, achieving high-resolution training of complete base pairs [13]. - The model outputs 11 modalities, covering 5,930 human or 1,128 mouse genomic tracks, demonstrating its comprehensive predictive capabilities [13]. Group 3: Training and Performance - AlphaGenome is trained through a two-phase process involving pre-training and distillation, achieving inference times under one second on NVIDIA H100 GPUs [15][16]. - In evaluations across 24 genomic tracks, AlphaGenome maintained a leading position in 22 tasks, showing a 17.4% relative improvement in cell-type-specific LFC predictions compared to existing models [19]. - The model achieved significant enhancements in various tasks, such as a 25.5% improvement in expression QTL direction predictions compared to Borzoi3 [21]. Group 4: Clinical Applications - AlphaGenome can aid researchers in understanding the underlying causes of diseases and discovering new therapeutic targets, exemplified by its application in T-cell acute lymphoblastic leukemia research [29]. - The model's capabilities extend to predicting synthetic DNA designs and assisting in fundamental DNA research, with potential for broader species coverage and improved prediction accuracy in the future [29]. Group 5: Availability - A preview version of AlphaGenome is currently available, with plans for a formal release, inviting users to experience its capabilities [30].