Journal of Human Genetics

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