《歐洲人類遺傳學雜志》是歐洲人類遺傳學學會的官方期刊，出版高質量、原創的研究論文、簡短的報告和評論，在迅速擴大的人類遺傳學和基因組學領域。它涵蓋了分子，臨床和細胞遺傳學，連接先進的生物醫學研究和臨床醫生，并在遺傳學社區的巨大多樣性的設施，資源和觀點。重點領域包括:單基因和多因素疾病發展和畸形遺傳性癌癥醫學基因組學基因定位和功能研究Genotype-phenotype相關性基因變異和基因組多樣性統計與計算遺傳學生物信息學高水平的診斷治療和預防動物模型遺傳服務群體遺傳學該雜志還出版邀請的社論和評論，社會和其他歐洲活動的公告和人類遺傳學社區普遍感興趣的特殊問題。

The European Journal of Human Genetics is the official journal of the European Society of Human Genetics, publishing high-quality, original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics. It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician, and bridging the great diversity of facilities, resources and viewpoints in the genetics community.Key areas include:Monogenic and multifactorial disordersDevelopment and malformationHereditary cancerMedical GenomicsGene mapping and functional studiesGenotype-phenotype correlationsGenetic variation and genome diversityStatistical and computational geneticsBioinformaticsAdvances in diagnosticsTherapy and preventionAnimal modelsGenetic servicesCommunity geneticsThe journal also publishes invited editorials and commentaries, announcements of societal and other European activities and special issues of general interest for the human genetics community.