百亿级人类基因组基础模型发布

Core Insights - The launch of Genos, a universal foundational model for the human genome with 100 billion parameters, represents a significant advancement in genomic research, enabling precise single-base resolution identification and supporting ultra-long context analysis of up to one million base pairs [1][2] Group 1: Model Features and Capabilities - Genos integrates multiple public resources, including the Human Pan-Genome Reference Consortium and the Human Genome Structural Variation Map Project, utilizing 636 high-quality human genomes to reduce data bias and better represent human genetic diversity [2] - The model employs a mixture of experts (MoE) architecture, allowing it to activate only the most relevant experts for specific tasks, thus optimizing resource consumption while maintaining a vast knowledge base [2] - Genos has demonstrated superior performance in over half of the classic evaluation tasks, including genome element recognition and mutation pathogenicity prediction, showcasing its strong contextual analysis capabilities [3] Group 2: Clinical and Research Applications - Genos provides a new efficient tool for clinical diagnosis, achieving high accuracy in interpreting pathogenic mutations, especially when combined with the 021 scientific foundational model [3] - The model is designed for easy deployment and use, with both 12 billion and 100 billion parameter versions available, making it accessible for various applications [4] - Genos has been integrated with the DCS Cloud platform, allowing users to predict RNA expression profiles in seconds based solely on DNA sequences, significantly accelerating biological data analysis [5]