Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics. These include:
/// the molecular basis of human genetic disease
/// developmental genetics
/// cancer genetics
/// neurogenetics
/// chromosome and genome structure and function
/// therapy of genetic disease
/// stem cells in human genetic disease and therapy, including the application of iPS cells
/// genome-wide association studies
/// mouse and other models of human diseases
/// functional genomics
/// computational genomics
In addition, the journal also publishes research on other model systems for the analysis of genes, especially when there is an obvious relevance to human genetics.