Human Mutation

《人类突变》（Human Mutation，常用缩写 Hum. Mutat.）是人类基因组变异学会（HGVS）的官方期刊，1992 年创刊，原由威利—利斯出版，现通过威利与欣达维的合作由欣达维（Hindawi）出版，为完全开放获取期刊，月刊，2025 年影响因子 1.8。Human Mutation (commonly abbreviated Hum. Mutat.) is the official journal of the Human Genome Variation Society (HGVS), founded in 1992, originally published by Wiley-Liss and now published by Hindawi under the Wiley-Hindawi partnership, a fully open access monthly journal, with a 2025 impact factor of 1.8.

Scope

刊物官方宗旨为发表人类突变研究各方面的原创研究与综述，官方声明的征稿范围包括：The journal's stated aim is to publish original research and reviews on all aspects of human mutation research, with its official scope covering:

• 变异与表型： 新型 DNA 变异及其表型后果的报告，以及被证明对基因组医学有价值的单核苷酸多态性与结构变异研究。Variation and phenotype: reports of novel DNA variations and their phenotypic consequences, together with studies of single nucleotide polymorphisms and structural variants demonstrated to be of value in genomic medicine.
• 方法与技术： 突变检测、变异解读、基因编辑、基因组学与转录组学技术的方法学研究，以及变异分类与命名规范的进展。Methods and technology: methodological studies on mutation detection, variant interpretation, gene editing, genomics and transcriptomics technologies, together with advances in variant classification and nomenclature.
• 栏目设置： 接受原创研究论文、综述、简报（Mutation in Brief）与读者来信，亦发表 HGVS 命名规范等指导性文件。Article types: original research papers, reviews, brief reports (Mutation in Brief) and letters to the editor, together with guidance documents such as HGVS nomenclature recommendations.

History

• 创刊与学会： 1992 年第 1 卷第 1 期出版，由威利—利斯代表人类基因组变异学会（原人类基因组组织变异科学委员会）出版。Founding and society: volume 1, issue 1 appeared in 1992, published by Wiley-Liss on behalf of the Human Genome Variation Society, then the Variome Scientific Committee of the Human Genome Organisation.
• 出版方变迁： 2021 年起通过威利与欣达维的合作转为由欣达维出版，并同步转为完全开放获取，文章处理费为 2370 美元。Publisher change: from 2021 it has been published by Hindawi under the Wiley-Hindawi partnership and simultaneously converted to fully open access, with an article processing charge of 2,370 US dollars.
• 出版频率： 1992 至 1993 年为每年 6 期，1994 至 1996 年为每年 8 期，1997 年起改为月刊。Publication frequency: six issues per year in 1992 and 1993, eight issues per year from 1994 to 1996, and monthly since 1997.
• 指标走势： 影响因子在 2017 至 2021 年间为 4.1 至 5.4，2022 年为 3.9，2023 年为 3.3，2024 年为 3.7，2025 年回落至 1.8，2025 年 JCR 遗传学分区为四区。Metric trend: the impact factor ranged from 4.1 to 5.4 between 2017 and 2021, stood at 3.9 in 2022, 3.3 in 2023, 3.7 in 2024 and fell to 1.8 in 2025, placing it in the fourth quartile of genetics and heredity in the 2025 JCR.

Editors

编辑部由主编、副编辑与国际编委会组成，主编与编委来自人类遗传学与基因组医学领域：The editorial office comprises the editor-in-chief, associate editors and an international editorial board, drawn from the fields of human genetics and genomic medicine:

• 主编： 米克洛什·沙欣—托特（Miklós Sahin-Tóth）自 2026 年 4 月起担任主编，研究方向为胰腺疾病遗传学，聚焦遗传性胰腺炎的分子机制。Editor-in-chief: Miklós Sahin-Tóth has served as editor-in-chief since April 2026, researching the genetics of pancreatic disorders with a focus on the molecular mechanisms of hereditary pancreatitis.
• 副编辑团队： 副编辑覆盖变异解读、癌症基因组学、神经遗传学、心血管遗传学与基因编辑等方向，协助处理稿件。Associate editors: covering variant interpretation, cancer genomics, neurogenetics, cardiovascular genetics and gene editing, supporting manuscript handling.
• 开放获取： 刊物为完全开放获取，所有文章均以知识共享署名协议发表，2025 年金色开放获取比例约为 99.4%。Open access: the journal is fully open access, with all articles published under a Creative Commons Attribution licence, and a gold open access proportion of about 99.4% in 2025.
• 收录与分区： 收录于科学引文索引扩展版（SCIE）、Medline、PubMed、Scopus 与 Embase，2026 年中科院分区为医学三区、遗传学二区。Indexing and ranking: indexed in the Science Citation Index Expanded (SCIE), Medline, PubMed, Scopus and Embase, and classified in the third quartile of medicine and second quartile of genetics under the 2026 Chinese Academy of Sciences scheme.