《人類遺傳學雜志》是一份領先的國際期刊，發表有關人類遺傳學的文章，包括醫學遺傳學和人類基因組分析。涵蓋人類遺傳學的所有方面，包括基因克隆和定位、連鎖分析、突變分析、進化、癌癥遺傳學和基因治療，以及動物疾病或行為模型的遺傳和功能分析。該雜志還提供臨床或細胞遺傳學病例報告，以及生物學上重要基因的遺傳多態性、遺傳性疾病患者或癌細胞中發現的新突變和群體遺傳學的報告。文章以文章、簡要通信、評論文章、信函、社論和評論的形式呈現。該雜志與日本人類遺傳學協會有關。

The Journal of Human Genetics is a leading international journal, publishing articles on human genetics, including medical genetics and human genome analysis.Coverage includes all aspects of human genetics, including gene cloning and mapping, linkage analysis, mutational analysis, evolution, cancer genetics, and gene therapy, as well as genetic and functional analysis of animal models of disease or behavior.The journal also presents clinical or cytogenetic case reports, as well as reports of genetic polymorphism of biologically important genes, novel mutations found in patients with hereditary diseases or in cancer cells, and population genetics.Articles are presented in the form of Articles, Brief Communications, Review Articles, Correspondences, Editorials, and Comments.The journal is associated with the Japan Society of Human Genetics.