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Human Mutation(研究方向:遗传学) (官网投稿)

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Human Mutation(月刊),创刊于1992年,出版国家为美国。Human Mutation是一个同行评议期刊,提供关于人类突变研究方面的原创研究文章,评论,数据库文章。
征稿信息

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1、投稿方式:在线投稿。

2、期刊官网:

http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1098-1004

3、期刊投稿:

https://mc.manuscriptcentral.com/humu

4、官网邮箱:humu@wiley.com

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201739日星期四

                       

 

Guide for Authors

 

CONTACT INFORMATION:

 

Human Mutation Editorial Office, John Wiley & Sons, Inc., 111 River Street, Hoboken, NJ 07030-5774, USA; E-mail: humu@wiley.com; http://www.wiley.com/humanmutation

 

 

ONLINE SUBMISSION AND PEER REVIEW

 

Prepare your manuscript and illustrations in appropriate format, according to the instructions given at ScholarOne Manuscripts (formerly known as Manuscript Central) http://mc.manuscriptcentral.com/humu/. Be sure that your paper conforms to the scientific and style instructions of the journal, given below.

Create an account for yourself in the system at the submission site, http://mc.manuscriptcentral.com/humu/ or enter your e-mail address if you think you might already have an account.

Please be sure to study the Instructions and Forms given at the site carefully, and then let the system guide you through the submission process. Online help is available to you at all times during the process. You are also able to exit/re-enter the process at any stage before finally "submitting" your work. All submissions are kept strictly confidential. If you have any questions, do not hesitate to contact us at humu@wiley.com.

 

EDITORIAL AIMS AND SCOPE

 

Human Mutation is a peer-reviewed journal that publishes original Research Articles, Brief Reports, Rapid Communications, Methods, Informatics, Databases, Reviews, and Mutation Updates on broad aspects of human genetic variation and inherited disease research. Reports of novel DNA variations and their functional and phenotypic consequences, new disease genes/phenotypes, studies of SNVs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and cutting-edge bioinformatic applications to medical genetics are welcomed. Novel reports of gene organization at the genomic level, reported in the context of inherited or common disease, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.

 

GENERAL

 

All manuscripts submitted to Human Mutation must be submitted solely to this journal and may not have been published in another publication of any type. No portion of a manuscript may be under consideration for publication elsewhere, or published elsewhere in a manner that could be construed as a prior or duplicate publication of the same, or very similar work. No published material may be reproduced or published elsewhere without the written permission of the publisher and the author. The journal will not be responsible for the loss of manuscripts at any time. All statements in, or omissions from, published manuscripts are the responsibility of the authors, who will assist the Publisher by reviewing page proofs before publication. Reprints: Reprints may be purchased at https://caesar.sheridan.com/reprints/redir.php?pub=10089&acro=humu. Additional data accompanying some articles may be published as online Supporting Information, at the Editors’ discretion.

 

EDITORIAL FEATURES

 

Research Articles

 

Describe functional/structural consequences of mutations in proteins.

Examine important genotype/phenotype relationships, especially in context of multiple mutations, SNPs, and/or novel gene(s) in single-gene disorders or complex diseases.

Apply large-scale mutation and polymorphism detection or screening techniques for clinical diagnosis and counseling.

Highlight identification and use of mutations in forensics, disease diagnosis, tissue typing, and cancer.

Describe a significant number of related novel mutations in expressed genes.

Describe in detail mutations in other species that have relevance to human disease.

Describe in-depth functional studies of novel single mutations in newly cloned genes or unique cases, when of demonstrated significance.

 

Brief Reports

 

Are concise (~2-4 page), high-impact observations relevant to medical and molecular genetics. Evaluation is highly selective and only a few will be published per issue. Brief Reports describe:

Original discoveries of novel disease-causing genes of broad interest, with phenotypic data and some functional analysis;

Descriptions of one or a few novel disease mutations with basic functional studies that the editors feel provide key insights into the biological basis of inherited Mendelian or common disease or phenotype;

Other observations relevant to medical and molecular genetics, at the editors’ discretion.

The editors welcome author inquiries regarding potential content. Please contact the Managing Editor with questions (humu@wiley.com).

 

Rapid Communications

 

Report exceptionally timely new research results. Contact the Managing Editor at humu@wiley.com before submission for advice or appropriateness.

 

 

Methods Articles

 

Detail novel methods for mutation detection, analysis, and use in screening.

Report in-depth comparative analysis of different detection methods; should include cost/benefit analysis and/or discuss quality control.

Describe progress useful in mutation collection, documentation, databasing and distribution.

 

Mutation Updates

 

Briefly review and summarize all mutations and polymorphisms in specific genes, including functional and clinical significance.

Synthesize the spectrum of mutations in genes with particular research or medical interests.

Highlight relevant animal models.

Include sections discussing genotype-phenotype correlation, diagnostic relevance, clinical implications, and future prospects.

In cases where a significant number of novel mutations/polymorphisms accompanied with detailed functional analysis are to be reported, the Editors may consider co-review and co-publication of a separate Research Article presenting such variants.

Please inquire with the editors (humu@wiley.com) to suggest a topic and to receive the journal's Mutation Update author guidelines (updated 2009).

 

Review Articles

 

Summarize information on gene families or regions and their function and clinical significance.

Analyze strategies in the clinical investigation of mutations.

Survey methodologies or diagnostic strategies relevant to the field of mutation/SNP detection, clinical diagnosis, etc.

Survey mutation databases or programs used for databases.

Please inquire with the editors (humu@wiley.com) to suggest a topic.

 

Informatics

 

Describe software tools, platforms, etc., for bioinformatic analysis.

 

Database Articles

 

Describe individual locus-specific (LSDB) or central mutation databases and related software or bioinformatic technologies.

Include data analysis that provides novel biologic information gained from the database.

Discuss current issues of importance regarding genome variation databases.

At the editors' discretion, Database articles that are notable, concise, descriptive, but that do not provide significant information or insight regarding the biology of mutations, may be published as a Database in Brief (DIB), an online-only article type.

Simple descriptions of LSDBs or other databases that in the editors’ view do not add sufficiently to the published literature will not be considered.

 

Special Articles

 

Cover a wide range of topics pertinent to the field, including nomenclature, genetic testing, bioinformatics, and ethical issues.

Usually invited. Suggestions are welcome. Please contact the Managing Editor at (humu@wiley.com).

 

Letters to the Editors

 

Peer-reviewed general correspondence. Letters commenting on and/or calling into question research published in Human Mutation will be sent to the original author for rebuttal if they pass peer and editorial review.

 

编辑委员会

 

编辑

DRGARRY R. CUTTING

McKusick-Nathans遗传学研究所

儿科和医学部

约翰霍普金斯医学院

巴尔的摩,美国马里兰州

 

 

创始共同编辑

DRRICHARD GH COTTON1940-2015

DRHAIG H. KAZAZIANJR

 

 

总编辑

 

 

Mark H. Paalman博士

人类突变编辑部

John WileySonsInc.

电子邮件:humu@wiley.com

 

 

变体命名编辑

Johan den Dunnen

 

咨询编辑

Walter F. Bodmer先生

C. Thomas Caskey

弗朗西斯S. Collins

Leroy E. Hood

YW Kan

Eric S. Lander

道格拉斯C.华莱士

爵士David Weatherall先生


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