人類分子遺傳學專注于涵蓋人類分子遺傳學各個方面的廣泛主題的完整研究論文。這些包括:人類遺傳疾病的分子基礎發育遺傳學癌癥遺傳學神經遺傳學染色體和基因組的結構和功能遺傳病治療干細胞在人類遺傳疾病和治療中的應用，包括iPS細胞全基因組關聯研究老鼠和其他人類疾病的模型功能基因組學計算基因組學此外，該雜志還發表了關于其他基因分析模型系統的研究，特別是當與人類遺傳學有明顯關聯時。

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 diseasedevelopmental geneticscancer geneticsneurogeneticschromosome and genome structure and functiontherapy of genetic diseasestem cells in human genetic disease and therapy, including the application of iPS cellsgenome-wide association studiesmouse and other models of human diseasesfunctional genomicscomputational genomicsIn 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.