醫(yī)學(xué)遺傳學(xué)雜志是一份領(lǐng)先的國(guó)際同行評(píng)審期刊，涵蓋了人類遺傳學(xué)的原始研究，包括對(duì)最新發(fā)展的評(píng)論和意見(jiàn)。文章涵蓋了人類疾病的分子基礎(chǔ)，包括生殖系癌癥遺傳學(xué)、遺傳疾病的臨床表現(xiàn)、分子遺傳學(xué)在醫(yī)學(xué)實(shí)踐中的應(yīng)用，以及對(duì)全球此類應(yīng)用的系統(tǒng)評(píng)價(jià)。

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.