Human Genetics

SCI期刊
Human Genetics
中文名称:
人类遗传学
期刊缩写:
HUM GENET
影响因子:
3.8
ISSN:
print: 0340-6717
on-line: 1432-1203
研究领域:
生物-遗传学
创刊年份:
1964年
h-index:
126
自引率:
3.80%
Gold OA文章占比:
37.64%
原创研究文献占比:
85.11%
SCI收录类型:
Science Citation Index Expanded (SCIE) || Scopus (CiteScore)
期刊介绍英文:
Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.
期刊介绍中文:
《人类遗传学》是一本领先的国际期刊,致力于发表人类遗传学各个领域的高质量研究成果。该杂志旨在增进我们对人类特征、疾病的遗传基础及其与环境相互作用的理解,以及遗传研究对临床实践和公共卫生的影响。
CiteScore:
CiteScoreSJRSNIPCiteScore排名
10.82.0491.627
学科
排名
百分位
大类:Medicine
小类:Genetics (clinical)
7 / 99
93%
大类:Biochemistry, Genetics and Molecular Biology
小类:Genetics
39 / 347
88%
发文信息
中科院SCI期刊分区
大类 小类 TOP期刊 综述期刊
2区 生物学
2区 遗传学 GENETICS & HEREDITY
WOS期刊分区
学科分类
Q2GENETICS & HEREDITY
历年影响因子
2015年5.1380
2016年4.6370
2017年3.9300
2018年5.2070
2019年5.7430
2020年4.1320
2021年5.8810
2022年5.3000
2023年3.8000
历年发表
2012年123
2013年149
2014年111
2015年105
2016年123
2017年104
2018年102
2019年137
2020年137
2021年167
2022年94
投稿信息
出版周期:
Monthly
出版语言:
English
出版国家(地区):
UNITED STATES
初审时长:
3 days
审稿时长:
1 months
出版商:
Springer Berlin Heidelberg
编辑部地址:
SPRINGER, 233 SPRING ST, NEW YORK, USA, NY, 10013

Human Genetics - 最新文献

Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challenges.

Pub Date : 2024-12-23 DOI: 10.1007/s00439-024-02720-y Paola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, Emil Alexov, David B Ascher, Giulia Babbi, Constantina Bakolitsa, Rita Casadio, Piero Fariselli, Lukas Folkman, Akash Kamandula, Panagiotis Katsonis, Dong Li, Olivier Lichtarge, Pier Luigi Martelli, Shailesh Kumar Panday, Douglas E V Pires, Stephanie Portelli, Fabrizio Pucci, Carlos H M Rodrigues, Marianne Rooman, Castrense Savojardo, Martin Schwersensky, Yang Shen, Alexey V Strokach, Yuanfei Sun, Junwoo Woo, Predrag Radivojac, Steven E Brenner, Daniele Dell'Orco, Emidio Capriotti

Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.

Pub Date : 2024-12-21 DOI: 10.1007/s00439-024-02718-6 Naseebullah Kakar, Selinda Mascarenhas, Asmat Ali, Azmatullah, Syed M Ijlal Haider, Vaishnavi Ashok Badiger, Mobina Shadman Ghofrani, Nathalie Kruse, Sohana Nadeem Hashmi, Jelena Pozojevic, Saranya Balachandran, Mathias Toft, Sajid Malik, Kristian Händler, Ambrin Fatima, Zafar Iqbal, Anju Shukla, Malte Spielmann, Periyasamy Radhakrishnan

Advancements and limitations in polygenic risk score methods for genomic prediction: a scoping review.

Pub Date : 2024-12-01 DOI: 10.1007/s00439-024-02716-8 Dovini Jayasinghe, Setegn Eshetie, Kerri Beckmann, Beben Benyamin, S Hong Lee
查看全部
免责声明:
本页显示期刊或杂志信息,仅供参考学习,不是任何期刊杂志官网,不涉及出版事务,特此申明。如需出版一切事务需要用户自己向出版商联系核实。若本页展示内容有任何问题,请联系我们,邮箱:info@booksci.cn,我们会认真核实处理。
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信