本报电（华轩）近日，在第二十届国际基因组学大会上，华大生命科学研究院与之江实验室联合发布了 百亿参数人类基因组通用基础模型——Genos。这一针对人类基因组深度优化的基因组基础模型，可支 持高达百万碱基对的超长上下文分析，并实现单碱基分辨率的精准识别。 为了全面验证模型的性能，研发团队进行了一系列测试。在基因组元件识别、远程调控预测、突变致病 性预测等经典评测任务里，Genos在超过一半的任务里比所有现有模型都表现更好，而且长序列评测任 务里，如突变热点识别和族群分类上，Genos的表现远超同类模型，展现了其强大的上下文分析能力， 有效破译基因组中的"暗物质"。 Genos在直接面向临床应用的致病性突变解读任务中，实现了较高的准确性，当结合021科学基础模型 后，准确率更高，为临床诊断提供了全新的高效工具。综合多项评测结果，Genos在各项核心任务中的 表现优越，证明了其全面的能力。 "共有、共为、共享"，让前沿科技触手可及 一个模型无论多么强大，如果不能被方便地部署和使用，其价值便大打折扣。Genos是一个可以走向临 床、走向个人、走向每一个实验室的"实践先锋"，为下游应用创新提供了坚实的地基。 Genos ...

Core Insights - The completion of the Human Genome Project in 2003 has provided a foundational understanding of life, yet challenges remain in interpreting this vast amount of genetic data. The launch of the Genos model by BGI Life Sciences and Zhijiang Laboratory aims to address these challenges by offering a deployable genomic universal foundational model with 100 billion parameters [1]. Group 1: Genos Model Advantages - Genos enhances both interpretative and deployment capabilities compared to existing models, primarily due to the expansion of training data. It integrates multiple authoritative public resources, including the Human Pan-Genome Reference Consortium (HPRC) and the Human Genome Structural Variation Consortium (HGSVC), utilizing 636 high-quality human genomes to better reflect human genetic diversity [2]. - The model's deployment capability is improved through a "mixed expert" architecture, which efficiently coordinates relevant algorithms to reduce inference costs and resource consumption, addressing the common issue of large models being difficult to deploy. Genos is also open-source, available in both 1.2 billion and 100 billion parameter versions on platforms like HuggingFace and Modao [2]. Group 2: Clinical and Research Implications - Clinical testing has demonstrated Genos's effectiveness, achieving a 92% accuracy rate in interpreting pathogenic mutations, which increases to 98.3% when combined with scientific foundational models. This performance surpasses existing top-level models [2]. - In research, AI models like Genos can transform the process of identifying pathogenic loci from a "needle in a haystack" approach to "precise navigation," significantly reducing the time required for rare disease and complex mechanism studies [3]. Group 3: Future Prospects and Challenges - The advancement of AI models in genomics is expected to shift drug development from a "trial-and-error" approach to "design-based" innovation, thereby reducing experimental iterations and costs [4]. - Future development faces three main challenges: expanding training databases to include more disease samples, establishing comprehensive ethical and safety standards, and enhancing interdisciplinary collaboration to integrate AI with clinical data systems and biological experimental platforms [4]. - The successful implementation of AI in genomics is anticipated to accelerate the arrival of precision medicine, with the Genos model being a significant step towards unlocking the potential of the life economy [4].

Core Insights - The article reports the launch of the world's first deployable genomic universal foundational model, Genos, by BGI Life Sciences Research Institute and Zhijiang Laboratory, featuring over 100 billion parameters [1] - Genos supports ultra-long context analysis of up to one million base pairs and achieves precise identification at single-base resolution [1] Group 1: Model Features - Genos integrates multiple authoritative public resources, including the Human Pan-Genome Reference Consortium (HPRC) and the Human Genome Structural Variation Consortium (HGSVC) [1] - The model utilizes high-quality human genomes from 636 "telomere-to-telomere" level datasets, covering diverse global populations, enhancing the understanding of human genetic diversity [1] Group 2: Availability - The Genos model is fully open-sourced on platforms such as HuggingFace and Modao, offering two versions with 1.2 billion and 10 billion parameters to meet varying needs [1]

Group 1 - ByteDance's Seed team launched a 3D generative model called Seed3D 1.0 [1] - Kuaishou's StreamLake officially introduced a "tool + model + platform" AI programming product matrix [1] - Inspur released China's first one-stop development platform for scientific large models named OneScience [1] Group 2 - The general-purpose model of the human genome with 100 billion parameters, named "Genos," was officially released [1] - Alibaba's Quark AI glasses started pre-sale on the 24th, with prices starting at 3,699 yuan [1] - Elon Musk stated that the third generation of Optimus may be released in the first quarter of next year [1] Group 3 - The National People's Congress Standing Committee's Legislative Affairs Commission proposed to add content promoting AI safety and development to the Cybersecurity Law [1] - The UK government reached an agreement with OpenAI to expand data hosting capabilities [1]

格隆汇10月23日｜在第二十届国际基因组学大会（ICG-20）上，华大生命科学研究院与之江实验室联 合发布了全球首个百亿参数人类基因组通用基础模型——Genos。这一针对人类基因组深度优化的基因 组基础模型，可支持高达百万碱基对的超长上下文分析，并实现单碱基分辨率的精准识别。Genos的推 出标志着基因组研究从"读出"碱基序列迈向"读懂"生命底层逻辑的一次关键转折，有望为临床疾病诊 断、个人基因组解读及前沿科学研究带来突破性变革。据悉，Genos的相关成果已发表于国际学术期刊 GigaScience。 ...

23日，华大生命科学研究院与之江实验室联合发布全球首个百亿参数可部署的基因组通用基础模型 Genos。该模型支持多达百万碱基对的超长上下文分析，并实现单碱基分辨率的精准识别。 人类基因组由30亿对碱基组成。"人类基因组计划"破译了序列，但序列上碱基的具体功能仍需要精准识 别和解析。 （文章来源：科技日报） 测试结果显示，Genos在直接面向临床应用的致病性突变解读任务中，准确率达92%；结合科学基础模 型后，准确率高达98.3%。多项综合评测结果也显示，Genos超越现有最佳水平模型。 华大生命科学研究院相关负责人说，Genos模型已在HuggingFace（抱抱脸）、魔搭等平台全面开源开 放，提供12亿和100亿参数两个版本，满足不同需求。 现有模型大多基于1—2个参考基因组开展训练，难以体现人类遗传资源的多样性。而Genos整合了人类 泛基因组参考联盟（HPRC）、人类基因组结构变异图谱计划（HGSVC）等多个权威公开资源，首次 将全球范围内636个"端粒到端粒"级别的高质量人类基因组作为训练数据。这些数据覆盖了全球不同人 群，有助更全面理解人类遗传多样性。 算法架构方面，Genos通过"混合专家"架构， ...