Journal of Human Genetics是一本国际期刊，发表有关人类遗传学的文章，包括遗传医学和人类基因组分析。它涵盖了人类遗传学的方方面面，包括分子遗传学、临床遗传学、行为遗传学、免疫遗传学、药物基因组学、群体遗传学、功能基因组学、表观遗传学、遗传资咨询和基因治疗。 
期刊收录研究方向：医学遗传学，人类基因组分析，基因克隆和作图，链接和关联分析，罕见和表型的变异，变异分析，多因素疾病易感基因，人类进化，癌症遗传学，基因治疗，疾病或行为动物模型的遗传和功能分析，重要生物学基因的遗传多态性，遗传病患者新突变，癌细胞新突变，群体遗传学，表观遗传或染色质异常的人类疾病，人类表观基因组分析，非编码RNA，健康与疾病的发展起源，产前诊断，分子细胞遗传学和基因组结构变异

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Brief Communication
Review Article
Correspondence
Editorial
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Editor-in-Chief
Naomichi Matsumoto, Yokohama, Japan (Genetic and Genomic disorders, Medical Genetics)
Journal Manager
Hidenobu Soejima, Saga, Japan (Molecular Genetics, Epigenetics)
Associate Editors
Danny Chan, Hong Kong, China (Skeletal Development and Diseases)
Akihiro Fujimoto, Tokyo, Japan (Population Genetics, Cancer Genetics, Bioinformatics)
Yoshimitsu Fukushima, Matsumoto, Japan (Clinical Genetics, ELSI)
Akira Hata, Chiba, Japan (Genetic Epidemiology, Education)
Paul Horton, Tainan, Taiwan (Bioinformatics)
Shiro Ikegawa, Tokyo, Japan (Bone and Cartilage Diseases)
Johji Inazawa, Tokyo, Japan (Cancer Genomics and Epigenomics, Molecular Cytogenetics)
Yoichiro Kamatani, Yokohama, Japan (Statistical Genetics, Genetic Epidemiology)
Manfred Kayser, Rotterdam, Netherlands (Human Population and Evolutionary Genetics, Genetic Anthropology, Forensic Genetics)
Akinori Kimura, Tokyo, Japan (Cardiovascular Diseases, Immune-related Diseases)
Hiroki Kurahashi, Nagoya, Japan (Molecular Cytogenetics)
Jianjun Liu, Singapore, Singapore (Genetics of Complex Diseases and Genetic Epidemiology)
Yoichi Matsubara, Tokyo, Japan (Mendelian Diseases, Inborn Errors of Metabolism, Mutation Database)
Yoshio Miki, Tokyo, Japan (Cancer Genomics, Molecular Genetics)
Taisei Mushiroda, Yokohama, Japan (Pharmacogenomics)
Emiko Noguchi, Tsukuba, Japan (Allergic Diseases)
Tsutomu Ogata, Hamamatsu, Japan (Congenital Diseases, Chromosomal Abnormality, Endocrine Diseases)
Stephen P. Robertson, Dunedin, New Zealand (Disorders of Skeletogenesis and Neurogenesis)
Hyoung Doo Shin, Seoul, South Korea (Complex Diseases, Genome Diversity)
Mayumi Tamari, Tokyo, Japan (Respiratory and Allergic Disease)
Toshihiro Tanaka, Tokyo, Japan (Cardiovascular Genetics, Genome Epidemiology)
Tatsushi Toda, Tokyo, Japan (Neurological Diseases)
Sissades Tongsima, Pathum Thani, Thailand (Bioinformatics, Genomics, Medical Informatics, Parallel Computation)
Naoyuki Tsuchiya, Tsukuba, Japan (Rheumatic Diseases, Immunogenetics)
Tatsuhiko Tsunoda, Tokyo, Japan (Statistical Genetics)
Tom Walsh, Seattle, USA (Cancer Genetics, Genomics)
Yong-Gang Yao, Kunming, China (Molecular Anthropology, Complex Diseases, Mitochondrial Diseases)
Takeo Yoshikawa, Wako, Japan (Neuropsychiatric Disorders)
Koh-ichiro Yoshiura, Nagasaki, Japan (Single Gene Defect, Molecular Genetics, Genome Research)
Xue Zhang, Beijing, China (Mendelian Disorders, Genomic Disorders)
Advisory Editors
Walter Bodmer
Katsushi Tokunaga
Ichiro Matsuda
Arno G. Motulsky
Yasuo Nakagome
Yusuke Nakamura
Norio Niikawa
Takehiko Sasazuki
Grant R. Sutherland
Shoji Tsuji