万维提示：
1、投稿方式：在线投稿。
2、期刊网址：https://www.springer.com/journal/439
3、投稿网址：
https://www.editorialmanager.com/huge
4、官网邮箱：如下。
5、官网电话：(+44) 2920-744062；617-525-4535
6、期刊刊期：月刊，一年出版十二期。
2021年4月28日星期三
期刊邮箱【官网信息】
Editors
Editors-in-Chief
David N. Cooper, Ph.D.
Institute of Medical Genetics
Cardiff University
Heath Park, Cardiff CF14 4XN, UK
Tel.: (+44) 2920-744062
Fax: (+44) 2920-746551
e-mail: cooperDN@cardiff.ac.uk
Cynthia C. Morton, Ph.D.
Brigham and Women's Hospital
Harvard Medical School
77 Avenue Louis Pasteur
Boston, MA 02115, USA
Tel.: 617-525-4535
Fax: 617-525-4533
e-mail: cmorton@bwh.harvard.edu
Contact the journal
Submission-related enquiries
Queries about submission issues, peer review process, or the status of your manuscript should be sent to Solai Abirami (solai.abhirami@springernature.com).
Publication-related enquiries
Queries about accepted manuscripts in production or post-publication corrections should be sent to Barakah Sharmeen (Barakah.Sharmeen@springernature.com).
Other editorial enquiries
Any other queries about the journal or presubmission enquiries should be sent to Andrea Pillmann (andrea.pillmann@springer.com).
投稿须知【官网信息】
Submission guidelines
Instructions for Authors
Papers may be considered for publication in the sections listed below.
Original investigations: Original investigations are definitive and comprehensive descriptions of major research findings which are of broad significance for readers of Human Genetics. Papers may be presented as full articles or short communications. Short communications should begin with a short abstract of up to 80 words. In total a short communication should be no longer than 500 words in length and should contain no more than one table, one figure and six references.
Letters to the Editor: Letters relating to published articles or topical issues in Human Genetics will be peer reviewed.
Review articles: Review articles and mini-reviews are most welcome. Contributors seeking to publish a review are nevertheless encouraged to contact an Editor prior to submitting the article.
Manuscript Submission
Submission of a manuscript implies: that the work described has not been published before; that it is not under consideration for publication anywhere else; that its publication has been approved by all co-authors, if any, as well as by the responsible authorities – tacitly or explicitly – at the institute where the work has been carried out. The publisher will not be held legally responsible should there be any claims for compensation.
Permissions
Authors wishing to include figures, tables, or text passages that have already been published elsewhere are required to obtain permission from the copyright owner(s) for both the print and online format and to include evidence that such permission has been granted when submitting their papers. Any material received without such evidence will be assumed to originate from the authors.
Online Submission
Please follow the hyperlink “Submit manuscript” on the right and upload all of your manuscript files following the instructions given on the screen.
Please ensure you provide all relevant editable source files. Failing to submit these source files might cause unnecessary delays in the review and production process.
Title Page
Please make sure your title page contains the following information.
Title
The title should be concise and informative.
Author information
The name(s) of the author(s)
The affiliation(s) of the author(s), i.e. institution, (department), city, (state), country
A clear indication and an active e-mail address of the corresponding author
If available, the 16-digit ORCID of the author(s)
If address information is provided with the affiliation(s) it will also be published.
For authors that are (temporarily) unaffiliated we will only capture their city and country of residence, not their e-mail address unless specifically requested.
Abstract
Please provide an abstract of 150 to 250 words. The abstract should not contain any undefined abbreviations or unspecified references.
For life science journals only (when applicable)
Trial registration number and date of registration
Trial registration number, date of registration followed by “retrospectively registered”
Keywords
Please provide 4 to 6 keywords which can be used for indexing purposes.
Declarations
All manuscripts must contain the following sections under the heading 'Declarations'.
If any of the sections are not relevant to your manuscript, please include the heading and write 'Not applicable' for that section.
To be used for all articles, including articles with biological applications
Funding (information that explains whether and by whom the research was supported)
Conflicts of interest/Competing interests (include appropriate disclosures)
Availability of data and material (data transparency)
Code availability (software application or custom code)
Authors' contributions (optional: please review the submission guidelines from the journal whether statements are mandatory)
Additional declarations for articles in life science journals that report the results of studies involving humans and/or animals
Ethics approval (include appropriate approvals or waivers)
Consent to participate (include appropriate statements)
Consent for publication (include appropriate statements)
Please see the relevant sections in the submission guidelines for further information as well as various examples of wording. Please revise/customize the sample statements according to your own needs.
Text
Text Formatting
Manuscripts should be submitted in Word.
Use a normal, plain font (e.g., 10-point Times Roman) for text.
Use italics for emphasis.
Use the automatic page numbering function to number the pages.
Do not use field functions.
Use tab stops or other commands for indents, not the space bar.
Use the table function, not spreadsheets, to make tables.
Use the equation editor or MathType for equations.
Save your file in docx format (Word 2007 or higher) or doc format (older Word versions).
Manuscripts with mathematical content can also be submitted in LaTeX.
LaTeX macro package (Download zip, 188 kB)
Headings
Please use no more than three levels of displayed headings.
Abbreviations
Abbreviations should be defined at first mention and used consistently thereafter.
Footnotes
Footnotes can be used to give additional information, which may include the citation of a reference included in the reference list. They should not consist solely of a reference citation, and they should never include the bibliographic details of a reference. They should also not contain any figures or tables.
Footnotes to the text are numbered consecutively; those to tables should be indicated by superscript lower-case letters (or asterisks for significance values and other statistical data). Footnotes to the title or the authors of the article are not given reference symbols.
Always use footnotes instead of endnotes.
Acknowledgments
Acknowledgments of people, grants, funds, etc. should be placed in a separate section on the title page. The names of funding organizations should be written in full.
Scientific style
Please always use internationally accepted signs and symbols for units, SI units.
Generic names of drugs and pesticides are preferred; if trade names are used, the generic name should be given at first mention.
Mutation nomenclatureMutation nomenclature as recommended by Dunnen JT den, Antonarakis SE (2001) Nomenclature for the description of human sequence variations. Hum Genet 109:121–124 must be used.
Gene symbols Gene symbols, as approved by the HUGO Gene Nomenclature Committee (HGNC)(http://www.genenames.org) must be used.
DNA Polymorphism–Disease Associations
Articles describing such associations must follow the guidelines set out in Cooper DN, Nussbaum RL, Krawczak M (2002) Proposed guidelines for papers describing DNA polymorphism– disease associations. Hum Genet 110:207–208.
New nucleotide data must be submitted and deposited in the DDBJ/EMBL/GenBank databases and an accession number obtained before the paper can be accepted for publication. Submission to any one of the three collaborating databanks is sufficient to ensure data entry in all. The accession number should be included in the manuscript e.g. as a footnote on the title page: ‘Note: Nucleotide sequence data reported are available in the DDBJ/ EMBL/GenBank databases under the accession number( s)----’. If requested the database will withhold release of data until publication. The most convenient method for submitting sequence data is by World Wide Web:
EMBL via Webin:
http://www.ebi.ac.uk/embl/Submission/webin.html
GenBank via Bankit:
http://www.ncbi.nlm.nih.gov/BankIt/
DDBJ via Sakura:
http://www.sakura.ddbj.nig.ac.jp/
Alternatively, the stand-alone submission tool ‘Sequin’ is available from the EBI at
http://www3.ebi.ac.uk/ Services/Sequin
and from NCBI at http://www.ncbi.nlm.nih.gov/Sequin/
For special types of submissions (e.g. genomes, bulk submissions etc.) additional submission systems are available from the above sites.
References
Citation
Cite references in the text by name and year in parentheses. Some examples:
Negotiation research spans many disciplines (Thompson 1990).
This result was later contradicted by Becker and Seligman (1996).
This effect has been widely studied (Abbott 1991; Barakat et al. 1995a, b; Kelso and Smith 1998; Medvec et al. 1999, 2000).
Reference list
The list of references should only include works that are cited in the text and that have been published or accepted for publication. Personal communications and unpublished works should only be mentioned in the text.
Reference list entries should be alphabetized by the last names of the first author of each work. Please alphabetize according to the following rules: 1) For one author, by name of author, then chronologically; 2) For two authors, by name of author, then name of coauthor, then chronologically; 3) For more than two authors, by name of first author, then chronologically.
If available, please always include DOIs as full DOI links in your reference list (e.g. “https://doi.org/abc”).
Journal article
Gamelin FX, Baquet G, Berthoin S, Thevenet D, Nourry C, Nottin S, Bosquet L (2009) Effect of high intensity intermittent training on heart rate variability in prepubescent children. Eur J Appl Physiol 105:731-738. https://doi.org/10.1007/s00421-008-0955-8
Ideally, the names of all authors should be provided, but the usage of “et al” in long author lists will also be accepted:
Smith J, Jones M Jr, Houghton L et al (1999) Future of health insurance. N Engl J Med 965:325–329
Article by DOI
Slifka MK, Whitton JL (2000) Clinical implications of dysregulated cytokine production. J Mol Med. https://doi.org/10.1007/s001090000086
Book
South J, Blass B (2001) The future of modern genomics. Blackwell, London
Book chapter
Brown B, Aaron M (2001) The politics of nature. In: Smith J (ed) The rise of modern genomics, 3rd edn. Wiley, New York, pp 230-257
Online document
Cartwright J (2007) Big stars have weather too. IOP Publishing PhysicsWeb. http://physicsweb.org/articles/news/11/6/16/1. Accessed 26 June 2007
Dissertation
Trent JW (1975) Experimental acute renal failure. Dissertation, University of California
Always use the standard abbreviation of a journal’s name according to the ISSN List of Title Word Abbreviations, see
ISSN LTWA
If you are unsure, please use the full journal title.
Tables
All tables are to be numbered using Arabic numerals.
Tables should always be cited in text in consecutive numerical order.
For each table, please supply a table caption (title) explaining the components of the table.
Identify any previously published material by giving the original source in the form of a reference at the end of the table caption.
Footnotes to tables should be indicated by superscript lower-case letters (or asterisks for significance values and other statistical data) and included beneath the table body.
Artwork
For the best quality final product, it is highly recommended that you submit all of your artwork – photographs, line drawings, etc. – in an electronic format. Your art will then be produced to the highest standards with the greatest accuracy to detail. The published work will directly reflect the quality of the artwork provided.
Electronic Figure Submission
Supply all figures electronically.
Indicate what graphics program was used to create the artwork.
For vector graphics, the preferred format is EPS; for halftones, please use TIFF format. MS Office files are also acceptable.
Vector graphics containing fonts must have the fonts embedded in the files.
Name your figure files with "Fig" and the figure number, e.g., Fig1.eps.
Line Art
Definition: Black and white graphic with no shading.
Do not use faint lines and/or lettering and check that all lines and lettering within the figures are legible at final size.
All lines should be at least 0.1 mm (0.3 pt) wide.
Scanned line drawings and line drawings in bitmap format should have a minimum resolution of 1200 dpi.
Vector graphics containing fonts must have the fonts embedded in the files.
Halftone Art
Definition: Photographs, drawings, or paintings with fine shading, etc.
If any magnification is used in the photographs, indicate this by using scale bars within the figures themselves.
Halftones should have a minimum resolution of 300 dpi.
Combination Art
Definition: a combination of halftone and line art, e.g., halftones containing line drawing, extensive lettering, color diagrams, etc.
Combination artwork should have a minimum resolution of 600 dpi.
Color Art
Color art is free of charge for print and online publication.
Color illustrations should be submitted as RGB.
Figure Lettering
To add lettering, it is best to use Helvetica or Arial (sans serif fonts).
Keep lettering consistently sized throughout your final-sized artwork, usually about 2–3 mm (8–12 pt).
Variance of type size within an illustration should be minimal, e.g., do not use 8-pt type on an axis and 20-pt type for the axis label.
Avoid effects such as shading, outline letters, etc.
Do not include titles or captions within your illustrations.
Figure Numbering
All figures are to be numbered using Arabic numerals.
Figures should always be cited in text in consecutive numerical order.
Figure parts should be denoted by lowercase letters (a, b, c, etc.).
If an appendix appears in your article and it contains one or more figures, continue the consecutive numbering of the main text. Do not number the appendix figures, "A1, A2, A3, etc." Figures in online appendices [Supplementary Information (SI)] should, however, be numbered separately.
Figure Captions
Each figure should have a concise caption describing accurately what the figure depicts. Include the captions in the text file of the manuscript, not in the figure file.
Figure captions begin with the term Fig. in bold type, followed by the figure number, also in bold type.
No punctuation is to be included after the number, nor is any punctuation to be placed at the end of the caption.
Identify all elements found in the figure in the figure caption; and use boxes, circles, etc., as coordinate points in graphs.
Identify previously published material by giving the original source in the form of a reference citation at the end of the figure caption.
Figure Placement and Size
When preparing your figures, size figures to fit in the column width.
For large-sized journals the figures should be 84 mm (for double-column text areas), or 174 mm (for single-column text areas) wide and not higher than 234 mm.
For small-sized journals, the figures should be 119 mm wide and not higher than 195 mm.
Permissions
If you include figures that have already been published elsewhere, you must obtain permission from the copyright owner(s) for both the print and online format. Please be aware that some publishers do not grant electronic rights for free and that Springer will not be able to refund any costs that may have occurred to receive these permissions. In such cases, material from other sources should be used.
Accessibility
In order to give people of all abilities and disabilities access to the content of your figures, please make sure that
All figures have descriptive captions (blind users could then use a text-to-speech software or a text-to-Braille hardware)
Patterns are used instead of or in addition to colors for conveying information (color-blind users would then be able to distinguish the visual elements)
Any figure lettering has a contrast ratio of at least 4.5:1
Supplementary Information (SI)
Springer accepts electronic multimedia files (animations, movies, audio, etc.) and other supplementary files to be published online along with an article or a book chapter. This feature can add dimension to the author's article, as certain information cannot be printed or is more convenient in electronic form.
Before submitting research datasets as Supplementary Information, authors should read the journal’s Research data policy. We encourage research data to be archived in data repositories wherever possible.
Submission
Supply all supplementary material in standard file formats.
Please include in each file the following information: article title, journal name, author names; affiliation and e-mail address of the corresponding author.
To accommodate user downloads, please keep in mind that larger-sized files may require very long download times and that some users may experience other problems during downloading.
Audio, Video, and Animations
Aspect ratio: 16:9 or 4:3
Maximum file size: 25 GB
Minimum video duration: 1 sec
Supported file formats: avi, wmv, mp4, mov, m2p, mp2, mpg, mpeg, flv, mxf, mts, m4v, 3gp
Text and Presentations
Submit your material in PDF format; .doc or .ppt files are not suitable for long-term viability.
A collection of figures may also be combined in a PDF file.
Spreadsheets
Spreadsheets should be submitted as .csv or .xlsx files (MS Excel).
Specialized Formats
Specialized format such as .pdb (chemical), .wrl (VRML), .nb (Mathematica notebook), and .tex can also be supplied.
Collecting Multiple Files
It is possible to collect multiple files in a .zip or .gz file.
Numbering
If supplying any supplementary material, the text must make specific mention of the material as a citation, similar to that of figures and tables.
Refer to the supplementary files as “Online Resource”, e.g., "... as shown in the animation (Online Resource 3)", “... additional data are given in Online Resource 4”.
Name the files consecutively, e.g. “ESM_3.mpg”, “ESM_4.pdf”.
Captions
For each supplementary material, please supply a concise caption describing the content of the file.
Processing of supplementary files
Supplementary Information (SI) will be published as received from the author without any conversion, editing, or reformatting.
Accessibility
In order to give people of all abilities and disabilities access to the content of your supplementary files, please make sure that
The manuscript contains a descriptive caption for each supplementary material
Video files do not contain anything that flashes more than three times per second (so that users prone to seizures caused by such effects are not put at risk)
English Language Editing
For editors and reviewers to accurately assess the work presented in your manuscript you need to ensure the English language is of sufficient quality to be understood. If you need help with writing in English you should consider:
Asking a colleague who is a native English speaker to review your manuscript for clarity.
Visiting the English language tutorial which covers the common mistakes when writing in English.
Using a professional language editing service where editors will improve the English to ensure that your meaning is clear and identify problems that require your review. Two such services are provided by our affiliates Nature Research Editing Service and American Journal Experts. Springer authors are entitled to a 10% discount on their first submission to either of these services, simply follow the links below.
English language tutorial
Nature Research Editing Service
American Journal Experts
Please note that the use of a language editing service is not a requirement for publication in this journal and does not imply or guarantee that the article will be selected for peer review or accepted.
If your manuscript is accepted it will be checked by our copyeditors for spelling and formal style before publication.
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