摘要
Genomic research has been constrained by insufficient diversity over the past two decades,with over 90%of studies targeting populations of European ancestry.This imbalance has hampered health equity and precision medicine,resulting in limited transferability of polygenic risk scores to underrepresented populations and misinterpretations of the pathogenicity of genomic variants.Recent advancements in sequencing technology have enabled the implementation of large-scale,high-quality,diverse,multi-omics,and engineered genomic projects,including the All of Us Research Program and the Trans-Omics for Precision Medicine Program.Coupled with the widespread adoption of electronic health records,wearable devices,and AI,the translation of these findings into clinical practice has been established for disease prediction,surveillance,and treatment across the lifespan.Here,a concise overview of the recent revolution in human genomic research is provided,emphasizing how these projects,in the era of large-scale whole-genome sequencing,have advanced genomic science,genomic medicine,and evolutionary genomics,as well as their clinical translational applications in disease prediction,cancer,drug response,and rare disease diagnosis.
基金
supported by the National Natural Science Foundation of China(82402203)
the Major Project of the National Social Science Foundation of China(23&ZD203)
the Open Project of the Key Laboratory of Forensic Genetics of the Ministry of Public Security(2022FGKFKT05)
the Center for Archaeological Science of Sichuan University(23SASA01)
the 1.3.5 Project for Disciplines of Excellence,West China Hospital,Sichuan University(ZYJC20002)
the Sichuan Science and Technology Program(2024NSFSC1518).
