Human Gene

Human Gene publishes high-quality research that advances understanding of human genes and genomes in health and disease. The journal provides a dedicated forum for studies that contribute to the discovery, characterization, and functional interpretation of human genes and genetic variation and their roles in biological mechanisms and clinically relevant phenotypes.

The journal publishes original research articles, short communications, resource reports, systematic reviews, and rigorously conducted meta-analyses that integrate genetic variations with functional or mechanistic insights.

Topics considered for publication span diverse areas of human molecular biology, genetics, and genomics, including but not limited to

• Human genetic variation, populations, and evolution (rare/common variants, population genetics, gene–environment interactions, genetic diversity across human populations)

• Genetic architecture of human disease (GWAS and post-GWAS analyses; structural variants and CNV; somatic variation, including cancer; genotype–phenotype relationships)

• Gene regulation and genome organization (transcriptional and post-transcriptional regulation; epigenetics and chromatin biology; 3D genome architecture; RNA biology, including non-coding RNAs)

• Functional and mechanistic genomics (functional characterization of disease-associated variants, CRISPR and genome editing, systems genetics, experimental validation of computational predictions)

• Multi-omics and integrative approaches (genomic, epigenomic, transcriptomic, proteomic, and other large-scale data integration with biological or mechanistic insight)

• Translational and clinical genomics (variant interpretation and genomic diagnostics, pharmacogenomics, biomarker discovery and validation, genomic predictors of therapeutic response and clinical implementation)

• Computational and data-driven approaches in human genomics (AI and machine learning applications, predictive modeling, large-scale data integration, benchmarking)

Submissions may range from studies of individual genes or variants to analyses of pathways, networks, and genome-scale datasets. Computational and data-driven studies are considered when they provide clear biological or clinical insight supported by robust validation and/or benchmarking.

Studies limited to purely descriptive association analyses, methodological development without interpretative advancement, or exploratory analyses lacking biological or clinical insight are generally outside the scope of the journal.

Human Gene is a companion journal to Gene and a member of the Gene Family of journals, alongside Gene Reports and Plant Gene, providing a coordinated forum for research on genes, genetic variation, and gene function, with Human Gene offering a focused platform for human-centered genomic research.