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Welcome to the Journal of Human Genetics

An international journal publishing articles on human genetics, including medical genetics and human genome analysis


  • DOK7 CpG hypermethylation in blood leukocytes as an epigenetic biomarker for acquired tamoxifen resistant in breast cancer

    Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-Biobank

    Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay

  • Special Issue Editors: Johji Inazawa, Yoshio Miki, and Yusuke Nakamura

Journal of Human Genetics is a Transformative Journal; authors can publish using the traditional publishing route OR via immediate gold Open Access.

Our Open Access option complies with funder and institutional requirements.