Journal of Medical Genetics is a leading international peer-reviewed journal covering original research in human genetics, including reviews of and opinion on the latest developments. Articles cover the molecular basis of human disease including germline cancer genetics, clinical manifestations of genetic disorders, applications of molecular genetics to medical practice and the systematic evaluation of such applications worldwide.

《医学遗传学杂志》是国际领先的同行评审期刊，涵盖人类遗传学的原始研究，包括对最 新进展的评论和意见。文章涵盖了人类疾病的分子基础，包括种系癌症的遗传学，遗传疾 病的临床表现，分子遗传学在医学实践中的应用以及对此类应用的系统评价。 。