新AI模型可精准锁定人体致病突变

Core Insights - Harvard Medical School and the Barcelona Genomic Regulation Center have developed an AI model named popEVE, which can accurately identify disease-causing mutations in human proteins, potentially transforming the diagnosis of genetic diseases [1][2]. Group 1: Model Development - popEVE is based on evolutionary data from hundreds of thousands of different species and genetic variation information from the entire human population, allowing it to analyze over 20,000 human proteins to identify pathogenic mutations and rank their severity [1]. - The model innovatively combines evolutionary data with resources from the UK Biobank and genomic aggregation databases, enabling it to calibrate disease predictions based on gene variations found in healthy populations [2]. Group 2: Model Validation and Performance - To validate its effectiveness, the team analyzed genetic data from over 31,000 families with children suffering from severe developmental disorders, where popEVE identified the most destructive mutations in 98% of cases, outperforming advanced tools like AlphaMissense [2]. - In the search for new pathogenic genes, popEVE discovered 123 genes previously thought unrelated to developmental disorders, with 104 of these appearing in only a few cases [2].