The Application of Clinical Genetics

The Application of Clinical Genetics is an international peer-reviewed open access online journal from Dove Medical Press that publishes laboratory and clinical findings in human genetics, founded in 2008, carrying the eISSN 1178-704X and a 2025 Journal Impact Factor of 2.4.《临床遗传学应用》是 Dove Medical Press 出版的国际同行评审开放获取线上期刊，2008 年创刊，以电子号 1178-704X 发行，刊载人类遗传学的实验室发现与临床发现，2025 年期刊影响因子 2.4。

Scope

• The aims page states the remit in a single sentence and welcomes laboratory and clinical findings in the field of human genetics, with both kinds of work named side by side.宗旨页用一句话界定收稿范围，欢迎人类遗传学领域的实验室发现与临床发现，两类工作在同一句话里并列举出。
• An update dated 6 August 2025 added a flat exclusion, stating that the title will no longer consider meta-analyses for publication.2025 年 8 月 6 日的修订加进一条明确的排除条款，声明本刊不再考虑发表荟萃分析。
• Population genetics comes first on the list, covering allele frequencies, founder effects and the structure of variation across populations.群体遗传学列在首位，涉及等位基因频率、奠基者效应以及群体之间变异的结构。
• Functional genetics follows, for studies that test what a variant does to a transcript, a protein or a cell rather than only where it sits in the genome.功能遗传学紧随其后，检验一个变异在转录本与蛋白质层面造成什么后果，而不只关心它在基因组中的位置。
• Natural history of genetic disease asks for the course of a condition over years, including the ages at which signs appear and the shape of progression.遗传病的自然史要求交代疾病多年的演变，包括症状出现的年龄与进展的形态。
• Management of genetic disease covers care after a diagnosis is made, from surveillance schedules through the choice among available interventions to the follow-up that keeps them working.遗传病的管理覆盖确诊之后的照护，从随访监测的安排到现有干预手段的取舍，再到维持疗效的长期随访。
• Mechanisms of genetic disease form a strand of their own, tracing the route from a lesion in the genome to the phenotype a clinician records at the bedside.遗传病的机制自成一条主线，梳理从基因组损伤到临床表型之间的通路。
• Counseling and ethical issues have a heading of their own, so consent, disclosure to relatives and the handling of uncertain results count as publishable subject matter.咨询与伦理问题自有条目，知情同意与对亲属的告知都算可发表的题目，结果不确定时如何处理同样在列。
• Animal models have a heading of their own, a slot for work in model organisms that carries a genetic finding relevant to human disease.动物模型单设一项，承载模式生物中与人类疾病相关的遗传学发现。
• Pharmacogenetics is the one subject tied to a mandated reporting instrument, and variant-guided prescribing sits at its centre.药物遗传学是唯一挂靠强制报告工具的主题，以变异指导用药为中心。
• Prenatal diagnosis is named outright, which brings carrier screening, invasive sampling and the reading of fetal findings inside the remit.产前诊断单列一项，携带者筛查与侵入性取样在范围内，胎儿结果的判读同样在列。
• Dysmorphology closes the list, a reminder that the physical examination still carries diagnostic weight in an era of high-throughput sequencing.畸形学收在清单末尾，提示在高通量测序时代体格检查仍有诊断分量。
• Six content forms are open to authors, namely original research, reviews, symposium reports, case studies, hypothesis formation and commentaries.可供作者选择的内容形态有六类，包括原创研究与综述，研讨会报告与病例研究，假说构建与评论。
• Case studies, hypothesis formation and commentaries make room for shorter submissions, since a single family or a single line of argument can carry a paper on its own.病例研究与假说构建各占一席，评论同样单列，一个家系或一条论证线索就能支撑一篇稿件。
• Author instructions are written once for the whole Dove list rather than for this title alone, and submission goes through the publisher's central manuscript entry point.作者指南由 Dove 全社统一撰写，不针对单一刊名，投稿经出版方的统一稿件入口进行。
• Pharmacogenetic papers must arrive with a completed STROPS checklist, and the same page asks for CONSORT for a randomised trial or STROBE for an observational study.药物遗传学稿件须附填好的 STROPS 清单，同一页还要求随机试验附 CONSORT，观察性研究附 STROBE。

History

• Dove Medical Press opened the title in 2008, and the first volume closed that year with three articles in it.Dove Medical Press 于 2008 年创办本刊，第 1 卷当年收在 3 篇文章上。
• One volume has appeared for each calendar year since then, so 2026 brings volume 19, and no issue numbers divide a volume.此后每个日历年出一卷，2026 年为第 19 卷，一卷之内不设期号。
• The journal states on its aims page that it is a member of COPE and subscribes to that body's principles, a commitment the publisher repeats in its ethics policy.宗旨页写明本刊是 COPE 会员并遵循该组织的原则，出版方在伦理政策里重复了同一承诺。
• Output has stayed small throughout, with 2 papers in 2009, 12 in 2017, 37 in 2021 and 26 in 2025, for 357 in total.年发文量一直不大，2009 年 2 篇，2017 年 12 篇，2021 年 37 篇，2025 年 26 篇，全刊累计 357 篇。
• The publisher is Dove Medical Press Ltd, part of Taylor & Francis Group, the academic publishing division of Informa PLC, whose registered office is at 5 Howick Place in London.出版方 Dove Medical Press 隶属 Taylor & Francis Group，即 Informa PLC 的学术出版部门，该集团注册地在伦敦 Howick Place 5 号。
• No print edition is issued, and the only identifier printed on the site is the electronic 1178-704X.本刊不印纸质版，站内印出的唯一编号是电子号 1178-704X。
• Open access has been the only route from the first volume, and the 2025 Journal Citation Reports count 98.51 per cent of the content as gold open access.自第 1 卷起开放获取就是唯一的通路，2025 年期刊引证报告把 98.51% 的内容计为金色开放获取。
• PubMed and PubMed Central index the title under the abbreviation Appl Clin Genet, and Scopus and Embase have covered it since 2009.PubMed 与 PubMed Central 以 Appl Clin Genet 缩写收录本刊，Scopus 与 Embase 自 2009 年起覆盖。
• Coverage sits in the Emerging Sources Citation Index, so the impact factor is an ESCI figure and no Science Citation Index Expanded entry exists.收录位置是新兴来源引文索引，影响因子因而按 ESCI 计算，刊物不在 SCIE 之列。
• The Journal Impact Factor read 2.6 for 2023, 2.8 for 2024 and 2.4 for 2025, against a five-year figure of 3.0.期刊影响因子 2023 年为 2.6，2024 年为 2.8，2025 年为 2.4，五年影响因子为 3.0。
• The 2025 Journal Citation Reports place the title 107th of 192 in GENETICS & HEREDITY, third quartile, with a Journal Citation Indicator of 0.45 at the 44.5th percentile.2025 年期刊引证报告把本刊列在 GENETICS & HEREDITY 类第 107 位（共 192 种），属第三四分位，期刊引文指标 0.45，百分位 44.5。
• The citation base stands at 916, annual output at 24 papers and the cited half-life at 7.2 years, a long tail for a title of this size.总被引 916 次，年发文 24 篇，被引半衰期 7.2 年，对这样规模的刊物算是长尾。
• A submission reaches a first editorial decision in 60 days on average, 35 per cent are accepted, and the site logged 54,226 downloads and views in the year.投稿到首次编辑决定平均 60 天，录用率 35%，站内年度下载与浏览合计 54,226 次。

Editors

• Martin H. Maurer holds the post of Editor-in-Chief and works as a physician at the Mariaberg Hospital for Child and Adolescent Psychiatry in Gammertingen, Germany.主编 Martin H. Maurer 在德国 Gammertingen 的 Mariaberg Hospital for Child and Adolescent Psychiatry 任医师。
• He is associate professor of physiology at the University of Heidelberg, took his medical degree there in 1999 and held a postdoctoral place in the department of physiology and pathophysiology from 2000 to 2005.他是海德堡大学生理学副教授，1999 年在海德堡取得医学博士学位，2000 年至 2005 年在生理学与病理生理学系做博士后。
• The postdoctoral years included a spell in the Department of Psychiatry and Behavioral Sciences at Johns Hopkins University in 2003.博士后期间他还在 2003 年赴约翰霍普金斯大学精神病学与行为科学系工作过一段。
• He joined the honorary editorial board at the inauguration in 2008 and was appointed Editor-in-Chief in 2012.2008 年创刊时他即进入名誉编委会，2012 年受任主编。
• The board lists 11 members in all, counting the Editor-in-Chief, and no associate editor tier sits beneath him.编委会连同主编共 11 人，主编之下不设副编辑层级。
• Five members work in the United States, two in Saudi Arabia, and Kuwait, Germany and Chile supply one each.美国 5 人，沙特阿拉伯 2 人，科威特 1 人，德国 1 人，智利 1 人。
• Fahd Al-Mulla, professor of genomic medicine and molecular pathology at Kuwait University, is also chief scientific officer at the Dasman Diabetes Institute, and Majid Abdullah Alfadhel is professor at King Saud bin Abdulaziz University for Health Sciences.Fahd Al-Mulla 是科威特大学基因组医学与分子病理学教授，兼任 Dasman Diabetes Institute 首席科学官，Majid Abdullah Alfadhel 在 King Saud bin Abdulaziz University for Health Sciences 任教授。
• Francis Ali-Osman holds a chair in neurosurgery at Duke University School of Medicine, and Lucio Comai works in molecular microbiology and immunology at the Keck School of Medicine of the University of Southern California.Francis Ali-Osman 在 Duke University School of Medicine 任神经外科教授，Lucio Comai 在南加州大学 Keck School of Medicine 从事分子微生物学与免疫学研究。
• Jennifer J. Hu teaches public health sciences at the University of Miami Miller School of Medicine, and James R. Lupski works in molecular and human genetics at Baylor College of Medicine.Jennifer J. Hu 在迈阿密大学 Miller School of Medicine 讲授公共卫生科学，James R. Lupski 在 Baylor College of Medicine 研究分子与人类遗传学。
• Rudolph Tanzi holds a chair in neurology at Harvard Medical School and Massachusetts General Hospital, while Kimberly J. Saudino runs the Boston University Twin Project from the psychology department there.Rudolph Tanzi 在 Harvard Medical School 与 Massachusetts General Hospital 任神经病学教授，Kimberly J. Saudino 在波士顿大学心理系主持 BU Twin Project。
• Narasimha Reddy Parine holds the genome research chair in biochemistry at King Saud University, and Blanca Urzúa-Orellana teaches biochemistry and oral biology at the Faculty of Dentistry of the University of Chile.Narasimha Reddy Parine 在沙特国王大学担任基因组研究教席，Blanca Urzúa-Orellana 在智利大学牙学院讲授生物化学与口腔生物学。
• Review is single-anonymous, reviewers are asked to return comments within 10 business days, they may not approach authors directly, and the COPE Ethical Guidelines for Peer Reviewers apply throughout.评审采用单盲，审稿人须在 10 个工作日内交回意见，不得直接联系作者，全程遵守 COPE 的审稿人伦理准则。
• Unpublished manuscripts may not be loaded into public databases or into tools that cannot promise confidentiality, no language model may draft a report, and generative AI is confined to polishing a finished one, declared with the tool name and version.未发表稿件不得载入公共数据库或不保证保密的工具，语言模型不得代写评审报告，生成式 AI 只可润色已完成的报告，并须向编辑声明工具名与版本。