Human Genetics presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and cytogenomics; genome structure and organization; bioinformatics; gene therapy and gene editing; disease association studies; molecular diagnostics; genetic epidemiology; evolutionary genetics; developmental genetics; genotype-phenotype relationships; pharmacogenetics and -genomics; molecular genetics of tumorigenesis; genetics of complex diseases and epistatic interactions; ethical, legal and social issues.

• No publication charges except for special services (Open Choice, paper offprints, e-offprints, posters etc.)
• Optional Open Choice publication offers authors to have their journal articles made available with full open access in exchange for payment of a basic fee
• Color art is free of charge for print and online publication
• 95% of authors who answered a survey reported that they would definitely publish or probably publish in the journal again