醫學遺傳學雜志是一份領先的國際同行評審期刊，涵蓋了人類遺傳學的原始研究，包括對最新發展的評論和意見。文章涵蓋了人類疾病的分子基礎，包括生殖系癌癥遺傳學、遺傳疾病的臨床表現、分子遺傳學在醫學實踐中的應用，以及對全球此類應用的系統評價。

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.