医学遗传学杂志是一份领先的国际同行评审期刊，涵盖了人类遗传学的原始研究，包括对最新发展的评论和意见。文章涵盖了人类疾病的分子基础，包括生殖系癌症遗传学、遗传疾病的临床表现、分子遗传学在医学实践中的应用，以及对全球此类应用的系统评价。
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.