European Journal of Human Genetics

European Journal of Human Genetics (EJHG) is the official journal of the European Society of Human Genetics (ESHG), published by Nature Portfolio within Springer Nature. Founded in 1993 and issued monthly, it covers human genetics and genomics and deliberately interfaces between advanced biomedical research and the clinician. It operates a hybrid open-access model.European Journal of Human Genetics（EJHG）是欧洲人类遗传学会（ESHG）的官方会刊，由 Springer Nature 旗下 Nature Portfolio 出版，创刊于 1993 年，现为月刊。该刊以人类遗传学与基因组学为核心，定位在基础生物医学研究与临床实践之间，属于典型的混合开放获取期刊。^[1]

Scope

The journal publishes high-quality original research papers, short reports and reviews in the rapidly expanding field of human genetics and genomics.刊物的定位是发表高质量的原创研究论文、综述与短篇报告，主题围绕人类遗传学这一快速扩张的领域展开。

• It covers molecular, clinical and cytogenetics, interfacing between advanced biomedical research and the clinician.学科覆盖以分子遗传学、临床遗传学与细胞遗传学为主轴，沟通前沿基础研究与临床医生之间的界面。
• Key areas include monogenic and multifactorial disorders, development and malformation, hereditary cancer and medical genomics.重点主题包括单基因与多因素遗传病、发育与畸形成因、遗传性肿瘤以及医学基因组学。
• Gene mapping and functional studies, genotype-phenotype correlations, and genetic variation and genome diversity are permanent fixtures of the journal.基因定位与功能研究、基因型与表型关联、遗传变异与基因组多样性同样是常设栏目。
• Statistical and computational genetics, bioinformatics, advances in diagnostics, therapy and prevention, animal models, genetic services and community genetics all fall within its scope.统计与计算遗传学、生物信息学，以及诊断技术的进步、治疗与预防手段、动物模型、遗传服务与社区遗传学等应用方向也都在收稿范围之内。
• Beyond research articles, the journal also publishes invited editorials and commentaries, announcements of societal and other European activities, and special issues of general interest to the human genetics community.除研究论文外，该刊还刊发受邀社论与评论、学会及其他欧洲相关活动的通告，以及面向整个人类遗传学界的专刊。

This mix positions EJHG as a hinge between laboratory papers and clinical genetics services, and explains why both clinicians and laboratory researchers cite it heavily.这一选题结构使 EJHG 在研究论文与临床遗传学服务之间承担枢纽角色，也解释了为何该刊长期同时被临床医生与实验研究者引用。

History

• 1993: The journal was launched as the official publication of ESHG by Nature Publishing Group and has never been renamed.1993：该刊作为 ESHG 的官方刊物创刊，出版方为 Nature Publishing Group，此后从未更名。
• Late 1990s: Publication frequency rose from quarterly in the early years to eight issues in 1999, settling into twelve issues a year from 2000.1990 年代末：出版频率从创刊初期的季刊逐步提升，1999 年扩至每年 8 期，2000 年起稳定为月刊。
• Around 2000: Gert-Jan B. van Ommen took over as editor-in-chief and opened the pages of the journal to ethical, legal and societal studies in human genetics.2000 年前后：Gert-Jan B. van Ommen 长期担任主编，把刊物的伦理、法律与社会影响类内容纳入选题。
• 2020: Alisdair McNeill became editor-in-chief, with the editorial office based at the University of Sheffield (United Kingdom).2020 年：Alisdair McNeill 出任主编，编辑部设于谢菲尔德大学（英国）。
• Recent years: The share of gold open-access articles has risen steadily alongside Springer Nature transformative agreements and funder mandates.近年：金色开放获取比例随 Springer Nature 的转型协议与资助方要求持续上升。^[2]

Editors

The journal is led by an editor-in-chief appointed by the ESHG council in consultation with the publisher, on an initial five-year term renewable in three-year periods. The editorial team is substantial, with roughly forty section editors drawn from Europe, North America, Australia and New Zealand, Asia, Africa and the Middle East.该刊实行主编负责制，主编由 ESHG 理事会与出版方协商任命，首届任期五年，其后按三年为期续任。编辑部规模不小，仅分区编辑即有约四十人，来自欧洲、北美、澳新、亚洲、非洲与中东。

• The current editor-in-chief is Alisdair McNeill, a senior clinical lecturer in neurogenetics at the Sheffield Institute for Translational Neuroscience (United Kingdom) and honorary consultant in clinical genetics at Sheffield Children's Hospital (United Kingdom).现任主编为 Alisdair McNeill，他是谢菲尔德大学（英国）转化神经科学研究所的神经遗传学高级临床讲师，并在谢菲尔德儿童医院（英国）担任临床遗传学名誉顾问医师。
• Aurélie de la Chapelle serves at associate-editor level, and the social media editorship is held by Seda S. Zonuzi.副编辑层面由 Aurélie de la Chapelle 承担，社群媒体编辑一职则由 Seda S. Zonuzi 担任。
• Section editors are assigned along directions such as clinical genetics, molecular genetics, cancer genetics, population genetics, statistical genetics, pharmacogenetics and the psychosocial aspects of genomics.分区编辑按临床遗传学、分子遗传学、肿瘤遗传学、群体遗传学、统计遗传学、药物基因组学以及基因组学的心理社会维度等方向划分。
• Peer review is single-anonymized, submissions must include an electronic manuscript file, and original research must carry a data availability statement with sequences deposited in public repositories.期刊采用单盲评审，所有投稿须附电子文本，原创研究还须提供数据可用性声明并将序列等数据存入公共数据库。