Topic: Advances in Population Genomics and Enhancements in Human Genomic Diversity

Over the past two decades, population genomics has been transformed by advances in high-throughput sequencing technologies, sophisticated computational methods, and the availability of large-scale cohort genomic datasets from globally diverse populations. These developments have enabled high-resolution investigations into human evolution, migration patterns, biological adaptation, archaic introgression, and disease susceptibility. However, a significant challenge persists: the historical overrepresentation of individuals of European descent in human genomic research. This imbalance continues to constrain our understanding of global human diversity and limits the equitable translation of genomic findings into precision medicine. Addressing this disparity is both a scientific priority and an ethical obligation, essential to ensuring that the benefits of genomic research are distributed fairly.

This Special Issue brings together studies that advance methodological innovations in population genomics while actively working to enhance the representation of human genomic diversity.

Topics of interest include, but are not limited to:

1. Development of refinedstatistical methods for ancestry inference, demographic modeling, biological adaptation, and archaic introgression;

2. Characterization of genetic variation in indigenous and understudied populations through whole-genome sequencing and genotype imputation;

3. Reconstruction of deep population history using integrated analyses ofautosomal, Y-chromosomal, and mitochondrial DNA;

4. Application of ancient DNA and multidisciplinary approaches combininggenomic, archaeological, linguistic, and environmental data;

5. Expansion of population-specific haplotype reference panels and datasets using second- and third-generation sequencing to improve variant interpretation, polygenic risk prediction, and locus discovery;

6. Identification of genetic determinants of complex traits and Mendelian disordersthrough large-scale cohort studies;

7. Advancements in bioinformatics and AI-driven approachesfor integrative genomic and multi-omics analyses.

We invite original research articles, reviews, and perspectives that offer novel insights into these areas. Submissions that contribute to a more inclusive, equitable, and globally representative vision of human genomics are particularly encouraged. This Special Issue aims to bridge existing gaps in genomic representation and foster research that reflects the full breadth of human diversity.

Population genomics, human genetic diversity, ancestry inference, ancient DNA, integrative genomic resources