Preparation of Submissions

On this page: Content Types | Manuscript | Mandatory Sections | Cover Letter | Title Page | Conflict of Interest Notification Page | Abstracts | Text | Supplementary Information | Graphical Abstracts | Terminology | Gene Nomenclature | Standardized Nomenclature of DNA Sequence Variants and Variant Data Sharing | Human Chromosome Nomenclature | System of Units (SI) | Drug Names | Standard Human Pedigree Nomenclature | English Language Support | Useful Tutorials 

Content Types

Article Types Considered

Genetics in Medicine publishes:

Case reports/single patient/family gene-disease association reports: Genetics in Medicine rarely publishes case reports or reports of gene-disease associations in a single patient/family; exceptional examples may be appropriate for consideration if they are likely to be of considerable interest to a broad audience.

Reviews and Comments are usually solicited by the Editor. If you have an article that is suitable for GIM but does not readily fit into one of the article types listed, please contact the Editorial Office.  Back to top of page

Manuscript

Manuscripts must be submitted in clear, concise English with:

  • double-spaced text including references, figure legends, and tables
  • 1-inch margin on all sides
  • no justified margins
  • no line numbers
  • page numbers

Tables and figures should each appear on a separate page of the manuscript file. For initial submission these figures should be good enough quality for review. If your article is accepted for publication, higher resolution figures may be required.

Tables and figures should be uploaded as separate files in the submission system, using the appropriate file category. Back to top of page

Cover Letter

Genetics in Medicine requires that most submissions be accompanied by a brief (one to two pages) cover letter and encourages the inclusion of one if not required. The cover letter is your opportunity to briefly explain to the editors why the manuscript is sufficiently novel and important to warrant publication in GIM.

In your cover letter, we also appreciate a brief explanation of why the manuscript is a good “fit” for GIM and why our readership, in particular, would be interested in it or would find it useful. Remember that GIM’s readership is typically focused on clinical issues (including patient care, the clinical laboratory and clinically-oriented research). Thus, pointing out how our readers would find your work of use is valuable.

Calling our attention to similar work that has appeared in GIM previously (by your own group or others) can demonstrate that the topic of the manuscript is of relevance to our readers if it carries such previously published work further or sheds new light on those general topics.

In the interests of transparency and to help readers form their own judgments of potential bias, authors must declare whether or not there are any competing financial interests in relation to the work described. This information must be included in the cover letter.

The corresponding author is responsible for alerting the editorial office, in the cover letter, if the manuscript includes subjects about which a previous report has been published or about a manuscript that is submitted to, under review by, in press at, or to be submitted to or published in another journal in the future. Contributions being prepared for or submitted to Genetics in Medicine can be posted on recognized preprint servers (such as ArXiv), and on collaborative web- sites such as wikis or the author’s blog. The website and URL must be identified to the editor in the cover letter. See Preprints for more information on the journal’s policy.

NLM Research Reporting Guidelines and Initiatives and EQUATOR list many guidelines to promote high quality of published research. The editors at GIM are encouraging authors to seek out appropriate guidelines for their studies, to fill in checklists if available, upload those checklists with your manuscript at submission, and to detail in the cover letter what guidelines were followed in producing your manuscript. Back to top of page

Title Page

The first page of the manuscript should include, in the following order: (1) title of paper, (2) authors’ full name and academic degrees (no more than two), (3) authors’ primary affiliations, and (4) a telephone number and e-mail address to whom correspondence concerning the manuscript should be sent. Back to top of page

Conflict of Interest Notification Page

Authors must disclose, on a separate page, any commercial association that might pose, create or create the appearance of a conflict of interest with the information presented in any submitted manuscript. This information will not influence the editorial decision. Please see here for details.  Back to top of page

Abstracts

References should not be cited in the abstract. Please be concise (200 words maximum in the abstract). Do not use unusual abbreviations. However, if an acronym or abbreviation appears more than twice in the abstract, spell out on first use and use the abbreviation thereafter. For original articles, brief communications, and systematic reviews, the abstract must be structured to the journal style to include a Purpose (the rationale for the study), Methods (a brief description of methods), Results (presentation of significant results) and Conclusion (a succinct statement of data interpretation). For all other types of manuscript submissions, an unstructured abstract is acceptable. Back to top of page

Text

The text should be organized in Sections in the following order (a) INTRODUCTION, (b) MATERIALS AND METHODS, (c) RESULTS, and (d) DISCUSSION.

Abbreviations must be defined at first mention in the text, table, and each figure.

Claims of primacy and novelty are discouraged.

Introduction

The Introduction should assume that the reader is knowledgeable in the field and should therefore be as brief as possible but can include a short historical review where desirable.

Materials (or patients) and Methods

This section should be brief, but contain sufficient detail so that all experimental procedures can be reproduced, and include references. Methods that have been published in detail elsewhere should not be described in detail. Authors should provide the name of the manufacturer and their location for any specifically named medical equipment and instruments, and all drugs should be identified by their pharmaceutical names, and by their trade name if relevant.

Results and Discussion

The Results section should briefly present the experimental data in text, tables or figures. Tables and figures should not be described extensively in the text, either. We will accept data reported using conventional data, but will require all data to also be in SI units. Please refer to the American Medical Association Manual of Style SI conversion units table for calculating SI units from conventional units.

The Discussion should begin with a very succinct summary of the major conclusions of the paper and then go on to focus on the interpretation and significance of the findings with concise objective comments that describe their relation to other work in the area. It should not repeat information in the results. The final paragraph should provide some indication of the direction future research should, or could, take. Back to top of page

The next four sections are mandatory for Articles, Education Reports and Brief Communications and MUST appear in this order:

  1. Data availability
  2. Acknowledgements
  3. Author Information
  4. Ethics Declaration

Data Availability

We require a statement about data availability in the manuscript – please see here for our policy. 

Acknowledgments 

Acknowledgments should be brief, and should include all sources of support including sponsorship (e.g., university, charity, commercial organization) and sources of material (e.g., novel drugs) not available commercially, plus substantive contributions by individuals. If expressing appreciation to another scientist for assistance with the research or manuscript, enclose written permission since such an acknowledgment may imply endorsement of the data and conclusions. Acknowledgment of nonscientific assistance (typist, manuscript preparation, and secretarial help) should not be included. However, where a language editing company has given assistance an acknowledgment should be included. Please do not thank the anonymous reviewers. Back to top of page

Author Information 

Genetics in Medicine (GIM) adheres to the ICMJE guidelines to define authorship. Please click here for more information on GIM authorship definitions. We also adhere to the CRediT - Contributor Roles Taxonomy and publish each author’s contribution to the study in the manuscript.

CRediT has 14 categories (click here for category definitions):

  1. Conceptualization
  2. Data curation
  3. Formal Analysis
  4. Funding acquisition
  5. Investigation
  6. Methodology
  7. Project administration
  8. Resources
  9. Software
  10. Supervision
  11. Validation
  12. Visualization
  13. Writing – original draft
  14. Writing – review & editing

Please assign each author to one or more of these categories based on their contribution to the study and manuscript. Not all categories may be appropriate for your study and manuscript, and authors can appear in as many categories as they contributed to.

The statement should be written in the following format:

CRediT category: Authors initials (each separated by a period); CRediT category: Authors initials (each separated by a period); etc

As an example: Conceptualization: A.J., R.L.; Data curation: D.J; Formal Analysis: D.J; Funding acquisition: T.J.H; Investigation: R.L.; Resources: R.L.; Software: A.J.; Visualization: D.J; Writing – original draft: A.J.; Writing – review & editing: T.J.H., R.L.

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Ethics Declaration 

Please see here for further details. 

References

Accuracy of reference data is the author’s responsibility. Verify all entries against original sources, especially journal titles, inclusive page numbers, publication dates, accents, diacritical marks, and spelling in languages other than English. List the references in the numerical order in which they appear in the manuscript. Reference citations will appear as superscript numbers in the text. Only list references that appear within the text; supplemental references should appear only in the supplemental material. List all authors if there are six or fewer; if there are more than six authors, list the first three and then et al. Avoid using abstracts as references. Journal titles should be abbreviated according to PubMed. If it is unclear how a reference should be formatted, please consult the American Medical Association Manual of Style: A Guide for Authors and Editors, 10th edition, pages 39-79. Genetics in Medicine will accept manuscripts generated using the Endnote and Zotero Genetics in Medicine template. Sample reference styles are as follows:

Journal article: Pomponio RJ, Hymes J, Reynolds TR, et al. Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res. 1997;42:840–848.

Book: Gelehrter TD, Collins FS, Ginsburg D, editors. Principles of medical genetics, 2nd ed. Baltimore: Williams & Wilkins; 1998.

Chapter in a book: Friedman JM, Dill FJ, Hayden MR. Population genetics. In: Friedman JM, Dill FJ, Hayden MR, editors. NMS genetics. Baltimore: Williams & Wilkins; 1996:105–109.

Meeting paper: Kessler S. Transcripts of genetic counseling sessions: exercises in missed opportunities. Paper presented at Talking Human Genetics: Verbal Communication, Knowledge and Genetic Makeup, Hamburg, 24—27 April 1997.

Thesis/dissertation: Hellsten E. Positional cloning of the infantile ceroid lipofuscinosis gene. Dissertation, Helsinki: National Public Health Institute, 1995.

World Wide Web: Page Institut Curie, 1997. http://www.curie.fr/curie/sm/brca. Accessed 30 January 2000.

Computer software: SAS Institute [computer program]. Release 6.12. Cary, NC: SAS Institute, 1997.

Online database: OMIM (Online Mendelian inheritance in man). Baltimore: Johns Hopkins University, Center for Medical Genetics, 1996. http://www3.ncbi.nlm.nih.gov/omim/(September)

Work “in press”: Hedrick PW, Black FL. HLA and mate selection: no evidence in SouthAmerindians. Am J Hum Genet. In press.

Preprints: See above. Refer to preprints in the body of the text as (unpublished data).

To cite a paper published in Genetics in Medicine, use the following abbreviation: Genet Med. Back to top of page

Supplementary Information

Genetics in Medicine publishes supplementary information online only.

Please submit supplementary figures, small tables and text as a single combined PDF document. Tables longer than one page should be provided as an Excel or similar file type. Please refer to the journal’s Data Policies, outlined here, for additional options for such files, and which provides guidance on alternatives to supplementary files for data deposition, linking, preservation, and storage.

For optimal quality video files, please use H.264 encoding, the standard aspect ratio of 16:9 (4:3 is second best) and do not compress the video. Important: Supplementary information is not copyedited, so please ensure that it is clearly and succinctly presented, that the style and terminology conform to the rest of the manuscript, and that any tracked-changes or review mark-ups are removed.

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Graphical Abstracts

Instructions to Authors

Authors have the option to submit a graphical abstract (GA) with their submission. A GA is a visual summary of the article’s main findings provided in a single-panel image. If authors choose to submit a GA it will be peer reviewed along with the article, and if accepted it will be published with the article as part of the supplementary material. We can also feature these in the electronic Table of Contents for the issue and the GA will display on the HTML page.

We will post GAs on GIM’s social media channels to promote the article.

A GA can be submitted at any point prior to the end of the peer review process. The journal editorial staff will prompt authors who are encouraged to revise and resubmit their manuscripts to include a GA with their revision.

Specs

A GA can be provided as either a drawing or image and preferably in color. The figure should be a high-quality TIFF or JPG file format at 1024x512 pixels using a minimum resolution of 300 dpi.

Please do not use abbreviations and do not use the Genetics in Medicine logo.

Examples

Please see here for three examples of GIM graphical abstracts.

Resources

They are many resources available on the internet to assist authors with creating a graphical abstract and we list some of those here:

Software to help compose GA:

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Terminology

Please use the following terms:

  • Variant instead of mutation
  • pathogenic variant to denote a disease-causing variant
  • genome sequencing instead of whole genome sequencing
  • exome sequencing instead of whole exome sequencing
  • non-invasive prenatal screening (NIPS) not non-invasive prenatal testing (NIPT)
  • secondary finding instead of incidental finding
  • carrier screening when referring to testing populations
  • heterozygote (rather than carrier) when referring to a person's genotype/genetic test result
  • screening when searching asymptomatic populations for P/LP variants
  • surveillance (rather than screening) when referring to use of imaging, labs, or other clinical evaluation in individuals at risk for disease manifestations

For more information please refer to: Jarvik GP, Evans JP. Mastering genomic terminology.

Genetic Disorders

Genetic disorders should be accompanied by their corresponding OMIM numbers. For details on OMIM numbers, please refer here. Back to top of page

Gene Nomenclature

The genetic notation and symbols approved by the Human Gene Mapping Workshop (HGMW) should be used. Approved gene symbols and nomenclature can be obtained from the HUGO Gene Nomenclature Committee. Mendelian Inheritance in Man (MIM) nomenclature and instructions for a specific entry should be used when appropriate. Use ISCN nomenclature for cytogenetic notation (Mitelman F[ed]. ISCN 1995. An international system for human cytogenetic nomenclature.  S. Karger, Basel, 1995). Human gene names and loci are given in italicized capital letters and Arabic numbers. Protein products are not italicized. Mouse nomenclature should use the International Committee on Standardized Genetic Nomenclature for MiceBack to top of page

Standardized Nomenclature of DNA Sequence Variants and Variant Data Sharing

Documenting variation in our genomes is an important undertaking for human research and clinical care. Accuracy in the notation of DNA sequence variants is essential for the success of this endeavor. Because of the importance of the issue and the overall consensus on the rules, Genetics in Medicine (GIM) is adopting an editorial policy that requires compliance with the Human Genome Variation Society (HGVS) recommendations for describing sequence variants before manuscripts can be accepted and published. GIM also strongly encourages all authors to submit DNA sequence variants reported in manuscripts to a public database (e.g. ClinVar or Global Variome shared LOVD) prior to publication.

DNA sequence variant nomenclature should follow current recommendations of the HGVS (https://onlinelibrary.wiley.com/doi/full/10.1002/humu.22981). Please visit HGVS for the latest nomenclature updates, for examples of acceptable nomenclature, guidance concerning reference sequences, or if you have further questions.

Compliance with HGVS nomenclature must be verified using batch validation tools such as provided by the Mutalyzer program or VariantValidator. Variants should be submitted at https://mutalyzer.nl/batch-jobs or https://batch.variantvalidator.org/batchvalidator/ respectively. The file resulting from this analysis containing each variant noted in your manuscript must be included in your submission as an Excel file. These tools are freely available on the web. If you receive errors or warnings regarding the variants you input, please contact the respective software systems admin to resolve the errors or warnings prior to submitting the variant file to Genetics in Medicine. Please refer to https://variantvalidator.org/help/instructions/ for a list of potential warnings from VariantValidator. 

Contact information:
VariantValidator https://variantvalidator.org/help/contact/
Mutalyzer mutalyzer@googlegroups.com

Important considerations include:

DNA sequence variants should be described in the text and tables using both DNA and protein designations whenever appropriate.

  • Reference sequences defined in the HGVS nomenclature guidelines must be used for reporting sequence variants. Authors should always include the Accession Number of the relevant reference sequence(s), with version number where applicable (e.g.: RefSeq NM_003002.3, LRG_9t1 or GenBank NC_000011.10), in the Materials and Methods section and as a footnote in any tables listing variants. Please note: RefSeq and Ensembl transcript reference sequences that have been denoted as the default reporting references through the Matched Annotation from the NCBI and EBI (MANE) project may be used once approved by the HGVS variant nomenclature working group.
  • If alternative nomenclature schemes are commonly found in the literature, they may also be used in addition to approved nomenclature, but they must be clearly defined (e.g. CFTR p.Phe508del and deltaF508).
  • Standard HGVS nomenclature using g. annotation and identifying the genome build must be used for non-coding variation, including those variants identified in GWAS studies (e.g., NC_000017.11:g.50201450C>T). Variants may also be described using dbSNP genomic location identifiers, in addition to approved nomenclature, if the specific nucleotide change is also included.  

Acceptance and/or publication may be delayed if authors do not follow these guidelines. Back to top of page

Human Chromosome Nomenclature

GIM follows the International System for Human Cytogenomic Nomenclature (ISCN) published in Cytogenetic and Genome Research Vol. 149, No. 1-2, 2016

System of Units (SI)

Authors should express all measurements in International System of Units (SI) with conventional units in parenthesis. Conversion tables are available in the “American Medical Association Manual of Style: A Guide for Authors and Editors,” 10th edition, pages 795. Back to top of page

Drug Names

Use the recommended international non-proprietary name for all drugs. If a proprietary name must be used, it should be done only in the methods section, in parentheses after the first use of the generic name. Then use the generic name throughout the rest of the paper.

Standard Human Pedigree Nomenclature

When representing a human pedigree, please refer to here. Back to top of page

English Language Support

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.

In partnership with Springer Nature, each English language editing service below will provide a 10% discount to all authors publishing in a Springer Nature publication. Prior to the completion of the request/at checkout, when prompted, please indicate that you are such an author and the discount will be applied.

English language editing services:

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. Back to top of page

Useful Tutorials

GIM and Springer Nature are pleased to share detailed online Author and Reviewer tutorials – including interactive quizzes – which cover the following topics:

  • Writing a journal manuscript
  • Submitting a journal manuscript and peer review
  • Writing in English
  • How to peer review
  • Open Access

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Last Updated: November 2020