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.

人類分子遺傳學(xué)專注于涵蓋人類分子遺傳學(xué)各個(gè)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(chǔ)發(fā)育遺傳學(xué)癌癥遺傳學(xué)神經(jīng)遺傳學(xué)染色體和基因組的結(jié)構(gòu)和功能遺傳病治療干細(xì)胞在人類遺傳疾病和治療中的應(yīng)用，包括iPS細(xì)胞全基因組關(guān)聯(lián)研究老鼠和其他人類疾病的模型功能基因組學(xué)計(jì)算基因組學(xué)此外，該雜志還發(fā)表了關(guān)于其他基因分析模型系統(tǒng)的研究，特別是當(dāng)與人類遺傳學(xué)有明顯關(guān)聯(lián)時(shí)。