EUROPEAN JOURNAL OF HUMAN GENETICS

《欧洲人类遗传学杂志》是欧洲人类遗传学学会的官方期刊，出版高质量、原创的研究论文、简短的报告和评论，在迅速扩大的人类遗传学和基因组学领域。它涵盖了分子，临床和细胞遗传学，连接先进的生物医学研究和临床医生，并在遗传学社区的巨大多样性的设施，资源和观点。重点领域包括:单基因和多因素疾病发展和畸形遗传性癌症医学基因组学基因定位和功能研究Genotype-phenotype相关性基因变异和基因组多样性统计与计算遗传学生物信息学高水平的诊断治疗和预防动物模型遗传服务群体遗传学该杂志还出版邀请的社论和评论，社会和其他欧洲活动的公告和人类遗传学社区普遍感兴趣的特殊问题。

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.