《人類突變》是一本同行評審的期刊，提供關于人類突變研究廣泛方面的原始研究文章、方法、突變更新、評論、數據庫文章、快速通信和信件的出版。歡迎有關新的DNA變異及其表型結果的報告、對基因組分析有價值的SNPs報告、對新的分子檢測方法的描述以及臨床診斷的新方法。在基因組水平上的基因組織的新報告，在突變研究的背景下，可以考慮。該雜志提供了一個獨特的論壇，交流思想，方法和應用的興趣分子，人類，醫學遺傳學家在學術，工業和臨床研究設置世界各地。

Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.