万维提示：
1、投稿方式：在线投稿。
2、期刊网址：
https://onlinelibrary.wiley.com/journal/10981004
3、投稿网址：http://mc.manuscriptcentral.com/humu
4、官网邮箱：humu@wiley.com（编辑部）
5、期刊刊期：月刊，一年出版12期。
2021年6月3日星期四
投稿须知【官网信息】
AUTHOR GUIDELINES
1. SUBMISSION
Authors should kindly note that submission implies that the content has not been published or submitted for publication elsewhere except as a brief abstract in the proceedings of a scientific meeting or symposium.
Once the submission materials have been prepared in accordance with the Author Guidelines, manuscripts should be submitted via the journal’s ScholarOne site: https://mc.manuscriptcentral.com/humu. For more details on how to use ScholarOne, visit www.wileyauthors.com/scholarone. Note, this journal uses iThenticate’s CrossCheck software to detect instances of overlapping and similar text in submitted manuscripts.
ORCiD IDs:
The submission system will prompt the author to use an ORCiD ID (a unique author identifier) to help distinguish their work from that of other researchers. We urge all co-authors to provide their ORCiD IDs on the title page of the manuscript where space permits, or in an appendix. Lack of compliance could slow down the evaluation process and/or eventual publication. Click here to find out more about ORCiD IDs.
Data Protection Policy:
By submitting a manuscript to or reviewing for this publication, your name, email address, and affiliation, and other contact details the publication might require, will be used for the regular operations of the publication, including, when necessary, sharing with the publisher (Wiley) and partners for production and publication. The publication and the publisher recognize the importance of protecting the personal information collected from users in the operation of these services, and have practices in place to ensure that steps are taken to maintain the security, integrity, and privacy of the personal data collected and processed. You can learn more at authorservices.wiley.com/statements/data-protection-policy.
For help with submissions, please contact the Editorial Office: humu@wiley.com. When necessary, the Editorial Office staff may refer questions to the Editor-in-Chief.
Preprint Policy:
This journal will consider for peer review articles previously available as preprints on non-commercial servers such as arXiv, bioRxiv, psyArXiv, SocArXiv, engrXiv, etc. Authors are requested to update any pre-publication versions with a link to the final published article. Authors may also post the final published version of the article immediately after publication. If your manuscript is available on a preprint server, you must indicate this in your cover letter and provide the DOI. Wiley's policy on self-archiving is described in more detail here.
2. AIMS AND SCOPE
Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, 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.
3. MANUSCRIPT CATEGORIES AND REQUIREMENTS
IMPORTANT NOTES:
1. For reporting of putative novel disease genes or phenotypes, Human Mutation is now requiring observation of deleterious variants in at least two unrelated individuals for consideration in our journal with high priority. You may wish to submit your case to public resources such as the Matchmaker Exchange (see Human Mutation 2015 Oct;36(10):915-21) to determine if other cases such as yours have been reported but not yet published.
2. Human Mutation may consider submissions based on functional evaluation of a single variant if the results are considered by the editors to provide novel and exceptional insight into structure/function relationships or pathogenesis. However, we no longer consider Research Article submissions of such studies. Should authors wish to submit a manuscript describing the detailed functional analysis of a single variant, the Brief Report format should be used. Authors should follow the Brief Report guidelines below and make use of online supplementary materials as necessary. Otherwise, the editors may reject the submission.
MANUSCRIPT TYPES
Research Articles
Describe in detail the functional and biological consequences of genetic variants.
Examine important genotype/phenotype relationships, especially in context of multiple variants, 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 variants in forensics, disease diagnosis, tissue typing, and cancer.
Describe a significant number of related novel variants in expressed genes with some basic analysis of functional implications.
Describe in detail variants in other species that have direct relevance to human disease.
Describe in-depth functional studies of novel single variants in newly cloned genes or unique cases, when of demonstrated significance.
Brief Reports
Are concise (3-5 page), high-impact observations relevant to medical and molecular genetics. Evaluation is highly selective. Brief Reports describe:
Original discoveries of novel disease-causing genes of broad interest, identified in at least two unrelated families, with phenotypic data and some functional analysis;
Descriptions of one or a few novel disease variants 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 will not consider purely descriptive case reports or reports of novel disease genes that are not supported with evidence from at least two unrelated families.
Rapid Communications
Report exceptionally timely new research results. Contact the 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.
Data Articles (NEW! - by invitation only)
Report datasets having potential for broad interest and usage among the research community.
Methods for data collection are emphasized.
By invitation. You must inquire with the editors (humu@wiley.com) to suggest a topic.
Submitted using a template. See our Data Article guidelines here.
Mutation Updates
Review articles that summarize all variants in specific genes, including functional and clinical significance.
Synthesize the spectrum of variants in genes with particular research or medical interests.
Highlight relevant animal models.
Include sections discussing genotype-phenotype correlation, diagnostic relevance, biological relevance, clinical implications, animal models (if applicable) and future prospects.
In cases where a significant number of novel variants 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.
By invitation. Please inquire with the editors (humu@wiley.com) to suggest a topic and to receive the journal's Mutation Update author guidelines. You must include with your proposal a brief summary of the lead author's publication record in the field and a list of the most recent published reviews on the topic.
Review Articles
Critical literature reviews that summarize information on inherited disorders, gene families or genomic regions and their function and clinical significance.
Analyze strategies in the clinical or diagnostic investigation of variants.
Survey methodologies or diagnostic strategies relevant to the field of variant detection, clinical diagnosis, etc.
Survey variant databases or applications used for databases.
By invitation. Please inquire with the Editor (humu@wiley.com) to suggest a topic. You must include with your proposal a brief summary of the lead author's publication record in the field and a list of the most recent published reviews on the topic.
Informatics
Describe software tools, platforms, etc., for bioinformatic analysis.
Database Articles
Describe individual locus-specific (LSDB) or central 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.
Simple descriptions of LSDBs or other databases that in the editors’ view do not add sufficiently to the published literature will not be considered.
Please read the Editorial "Yet another database?", which also describes editorial standards that affect the consideration of new Database Article submissions.
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 Editor at (humu@wiley.com).
Letters to the Editor
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.
GENERAL INSTRUCTIONS
Manuscripts must be submitted in grammatically correct English. Manuscripts that do not meet this standard cannot be reviewed. Authors for whom English is a second language may wish to consult an English-speaking colleague or consider having their manuscript professionally edited before submission to improve the English. A list of independent suppliers of editing services can be found at http://authorservices.wiley.com/bauthor/english_language.asp. All services are paid for and arranged by the author, and use of one of these services does not guarantee acceptance or preference for publication. A manuscript is considered for review and possible publication on the condition that it is submitted solely to Human Mutation, and that the manuscript or a substantial portion of it is not under consideration elsewhere.
Novel nucleotide sequence data including genetic mutations must be submitted to a public database prior to publication. See the Sequence Data section, below.
SEQUENCE VARIANT NOMENCLATURE
Because of the importance of the issue and the overall consensus on the rules, Human Mutation is adopting an editorial policy that requires absolute compliance with the rules to describe sequence variants before manuscripts will be accepted and published.
Click here for Quick Link to Verifying Nomenclature of DNA Variants and Sharing Variant Data Section
ETHICAL COMPLIANCE
Please include a statement confirming that your study was approved by an ethics committee as the first sentence of your Methods section, under the subheading, “Editorial Policies and Ethical Considerations”.
INFORMED CONSENT
Human Mutation requires that all appropriate steps be taken in obtaining informed consent of any and all human and/or experimental animal subjects participating in the research comprising the manuscript submitted for review and possible publication, and a statement to this effect must be included in the Methods section of the manuscript, under the subheading, “Editorial Policies and Ethical Considerations”. Identifying information should not be included in the manuscript unless the information is essential for scientific purposes and the study participants or patients (or parents or guardians) give written informed consent for publication.
PATIENT PHOTOGRAPHS
Human Mutation strongly prefers to publish unmasked patient photos. We encourage all prospective authors to work with families prior to submission to address the issue of permission for review and possible publication of patient images. If your submission contains ANY identifiable patient images or other protected health information, you MUST provide documented permission from the patient (or the patient’s parent, guardian, or legal representative) before the specific material will be circulated among the editors, reviewers and staff for the purpose of possible publication. The documented permission may be supplied as supplemental material uploaded with the submission. While the manuscript will be processed upon submission, anything considered protected health information will be restricted from access prior to the receipt of documented permission. We caution you that the absence of material or cited figures may adversely impact the manuscript in the review process. The submission of masked photos without sufficient deidentification is strongly discouraged (i.e., facial photographs with only small dark geometric shapes over the eyes are insufficient).
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更多详情：
https://onlinelibrary.wiley.com/page/journal/10981004/homepage/forauthors.html
