Rapid advances in sequencing and bioinformatics have profoundly enhanced disease understanding[1],while integrated genomic analyses reveal regulatory networks governing biological processes[2].However,research remains...Rapid advances in sequencing and bioinformatics have profoundly enhanced disease understanding[1],while integrated genomic analyses reveal regulatory networks governing biological processes[2].However,research remains disproportionately focused on populations of European ancestry or other groups with large sample sizes,such as Han Chinese,leaving many ethnically diverse and underrepresented populations disadvantaged in genomic medicine[3].Complex human demographic processes influence allele frequencies,define gene sets under selective constraints,and inform variant-filtering strategies crucial for genetic disease diagnosis and genetic counseling.This imbalance limits the global applicability of genomic findings and exacerbates existing health disparities.By prioritizing high-quality genome sequencing from underrepresented populations,researchers can uncover novel genetic variants,refine disease risk predictions,and promote equitable access to precision medicine.展开更多
基金supported by the Sichuan Science and Technology Program(grant number 2024NSFSC1518 to G.H.)the National Natural Science Foundation of China(grant number 82402203 to G.H.)+3 种基金the 1.3.5 Project for Disciplines of Excellence,West China Hospital,Sichuan University(grant number ZYJC20002 to H.Y.)the Major Project of the National Social Science Foundation of China(grant number 23&ZD203 to G.H.)the Open Project of the Key Laboratory of Forensic Genetics of the Ministry of Public Security(grant numbers 2022FGKFKT05 to G.H.and 2024FGKFKT02 to M.W.)the Center for Archaeological Science of Sichuan University(grant numbers 23SASA01 and 24SASB03 to G.H.).
文摘Rapid advances in sequencing and bioinformatics have profoundly enhanced disease understanding[1],while integrated genomic analyses reveal regulatory networks governing biological processes[2].However,research remains disproportionately focused on populations of European ancestry or other groups with large sample sizes,such as Han Chinese,leaving many ethnically diverse and underrepresented populations disadvantaged in genomic medicine[3].Complex human demographic processes influence allele frequencies,define gene sets under selective constraints,and inform variant-filtering strategies crucial for genetic disease diagnosis and genetic counseling.This imbalance limits the global applicability of genomic findings and exacerbates existing health disparities.By prioritizing high-quality genome sequencing from underrepresented populations,researchers can uncover novel genetic variants,refine disease risk predictions,and promote equitable access to precision medicine.
