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.

• Human Genetics is a Transformative Journal (TJ). When a paper is accepted for publication, authors can choose to publish using either the traditional publishing route or  immediate gold Open Access (Funding available! Please see: https://www.springer.com/journal/439/open-access-publishing)
• No publication charges except for special services (open access, paper offprints, e-offprints, posters etc.)
• 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