The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy.

Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.

    Medical genetics
    Human genome analysis
    Gene cloning and mapping
    Linkage and association analyses
    Rare variants in diseases and phenotypes
    Mutational analysis
    Susceptibility genes to multifactorial disorders
    Human evolution
    Cancer genetics
    Gene therapy
    Genetic and functional analysis of animal models of disease or behaviour
    Genetic polymorphisms of biologically important genes
    Novel mutations found in patients with hereditary diseases
    Novel mutations found in cancer cells
    Population genetics
    Human diseases with epigenetic or chromatin dysregulation
    Human epigenome analysis
    Noncoding RNAs
    Developmental Origins of Health and Disease
    Prenatal diagnosis
    Molecular cytogenetics and genomic structural variation

Article
Brief Communication
Review Article
Correspondence
Editorial
Comment

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