03/09/2026
BGI-Research, Zhejiang Lab and collaborators have introduced ATLAS, a genomic AI framework designed to support disease gene and locus discovery from genome sequences.
The study, accepted by ACM SIGKDD Conference on Knowledge Discovery and Data Mining, demonstrates how genomic foundation models may help researchers identify disease-associated signals, particularly in small-cohort studies, rare-disease research and low-frequency variant analysis.
Using β-thalassemia as a validation case, ATLAS successfully prioritized HBB, the major gene known to cause the disease, and helped narrow candidate regions for further study.
This work reflects BGI’s continued efforts to make genomic AI more practical for precision medicine and biomedical research.
Read more: https://en.genomics.cn/en-scientificdiscoverie-7631.html