• Introduction
  • Types of articles
    • Case Reports
    • Reviews and Comments
  • Presubmission inquries
  • Manuscript Assessment at Initial Submission (YPYW)
  • Online Submission
  • Plagiarism detection
  • Preprints
• Preparation
  • Peer review
  • Reviewer Continuing Medical Education (CME) and Continuing Education (CE)
  • Appeals to editorial decision
  • Preparing Your Manuscript for Submission
    • Title page
    • Authorship
    • Declaration of Generative AI in scientific writing
    • Abstracts
    • Text
    • Introduction
    • Materials (or patients) and methods
    • Results
    • Discussion
  • Terminology
  • Guidance on Language and Reporting on Diversity, Disability, Race, Ethnicity, Sex and Gender
  • Genetic disorders
  • Gene nomenclature
  • Classification of variants
  • Nomenclature of DNA sequence variants and variant data sharing
  • Amino Acid Three Letter Codes
  • Human chromosome nomenclature
  • System of units (SI)
  • Drug names
  • Standard human pedigree nomenclature
  • Sections at the end of your manuscript
    • Data availability
    • Acknowledgements
    • Funding Statement
    • Author Contributions
    • Ethics Declaration
    • Conflict of interest
  • Graphical abstract
  • Figures and Artwork
  • References
  • Reporting Guidelines
  • Supplementary material
• After Acceptance
  • Pre-proof publishing
  • Online proof correction
  • Press release
  • Offprints
• Author Inquiries
• Misconduct Policy

At GIM we support academic freedom and encourage debate and discussion around issues of interest to our readers and community. We will, not, however, respond to disrespectful communications. We expect that authors or others who communicate with GIM editors and/or staff do so politely and respectfully. We reserve the right, at the sole discretion of GIM, to terminate any communication in which we deem the discussions/discourse have become disrespectful, demeaning, intolerant and/or abusive, to discontinue the review or publication of any article at any point in the peer review process, or to retract, if necessary, a published article where circumstances deem it appropriate.



Tables 1 and 2 detail the article types that Genetics in Medicine publishes as well as the basic format and layout of all articles.

Table 1 gives suggestions for word, figure, and reference limits as well as required and encouraged checklists. While not enforced these are suggestions to keep your article concise.

Article type	Description	Abstract	Word counta	Display itemsb	References (max.)
Article	This category is self-explanatory. Introduction, Materials and Methods, Results, and Discussion sections are required. Order: Introduction, Methods, Results, Discussion	Yes, structured, 200 words maximum	4000	5	40
Economic evaluations	These are articles such as cost-effectiveness analyses. Please follow all the formatting guidelines for the "Article" above and submit as an "Article". Please also include the CHEERS checklist. Order: Introduction, Methods, Results, Discussion	Yes, structured, 200 words maximum	4000	5	40
Clinical Trial	Please read our Clinical Trial requirements. Include an Introduction, Methods, Results, and Discussion. Clinical Trials must include the CONSORT checklist and CONSORT Flow Diagram. The flow diagram should be Figure 1 of your manuscript.	Yes, structured, 200 words maximum	4000	5	40
Presubmission Inquiry	Click here for more information
Reviews	Reviews of current topics in medical genetics. Reviews are generally commissioned; however, the Editor will also consider unsolicited reviews. Please submit a presubmission inquiry for any manuscript topic that may be appropriate as a review.	Yes, unstructured, 200 words maximum	5000	5	75
Systematic review articles	A systematic review is a literature review focused on answering one or a few questions. The review attempts to identify, appraise, select and synthesize evidence relevant to those questions. A systematic review uses an objective and transparent approach for research synthesis, with the aim of minimizing bias. Systematic evidence reviews can inform clinical practice guidelines and identify gaps in our understanding of genetic issues in medicine and public health. We refer all authors to the PRISMA website and require that all submitted reviews in this category have the PRISMA flow diagram as Figure 1 of the paper. Please ensure you submit the correct checklist with your article, the website details several options.	Yes, structured, 200 words maximum	5000	3	We have no limit on the number of references for the articles meeting inclusion criteria for the review. However we restrict other references to 25. Please email the editorial office at [email protected] acmg.net for further details.
Education reports	Papers that describe new educational initiatives or approaches to genetics education. A rigorous experimental design and presentation of data to validate the approach are preferred but are not necessarily required as criteria for publication. Introduction, Methods, Results, and Discussion sections are required.	Yes, structured, 200 words maximum	4000	5	40

Table 2: For these Article Types the following limits are ENFORCED at submission:

Article type	Description	Abstract	Word counta	Display itemsb	References (max.)
Letter to the Editor	Responses to published papers. Please title your correspondence using this format: Correspondence on “insert article name here” by “insert author name here” et al.	No	1000	0	10
Commentary	Authoritative opinions or discussions of current topics important to the field and to readers of Genetics in Medicine. These are generally commissioned; however, the Editor will also consider unsolicited editorials.	No	1500	0	10
Brief Report	Reports of important and relevant clinical observations that inform the practice of Clinical Medical Genetics. Introduction, Methods, Results, and Discussion sections are required.	Yes, structured, 200 words maximum	2000	2	20

^aExcluding abstract, tables, figures, references, acknowledgment section, ethics, data statement, author contribution, and online-only materials.
^bThis includes tables and figures. Each printed page counts as one display item; therefore, if any one table or figure takes up more than one printed page, it will count as more than one display item.



Genetics in Medicine rarely publishes case reports or reports of gene-disease associations in a single patient/family or a very small cohort even if the experimental data is compelling; some manuscripts may be appropriate for consideration if they are likely to be of exceptional interest to a broad audience.
GIM does not encourage submissions in the topic area of gene discovery for infertility. It can be challenging to validate infertility gene discovery manuscripts with clinical outcomes and to apply them in clinical practice. Our journal publishes clinically relevant content



If you have an article that is suitable for GIM but does not readily fit into one of the article types listed, please submit as a presubmission inquiry.



Presubmission inquiries are provided as a service to authors (e.g. to see if a manuscript is likely to be of interest to the journal) and are not mandatory nor even necessarily recommended. Genetics in Medicine cannot guarantee the rapidity of response to inquiries, but will strive to answer within two business days. Please submit presubmission inquiries through our submission system at https://www.editorialmanager.com/genetmed and select the article type "presubmission inquiry". Contact us directly if the response is delayed. Presubmission inquiries are a means of soliciting informal feedback on whether a manuscript falls within the scope of the journal and is likely to meet the editors' standards.
Presubmission inquiry does not take the place of formal manuscript review. The process, by nature, is imperfect. Editors are being asked to review only a very small sample of a manuscript to determine its appropriateness for the journal. In addition, with multiple inquiries coming in daily and a subset of the manuscripts never being submitted despite positive responses, editors don't have the luxury of spending significant time on presubmission inquiries. Authors should take the response as a recommendation and nothing more. A positive response is no guarantee that a manuscript will be sent out for review or accepted for publication. A negative response does not guarantee rejection if the full manuscript is submitted. Finally, we do not accept appeals to presubmission inquiry responses. Authors who wish to submit despite a negative response should follow the journal's author instructions for submission.

Minimum necessary for presubmission inquiry:
Entire manuscripts should NOT be sent as presubmission, but rather submitted as specified in the journal's instruction for authors. The cover letter from the corresponding author requesting a presubmission inquiry should include:

• Manuscript title and abstract
• Full manuscript author list and affiliations
• Significant real or potential author conflicts of interest
• Brief introduction to the manuscript and statement of interest to the journal
• Brief description of relevant findings and their implications

Genetics in Medicine (GIM) has Instructions to Authors that extensively detail formatting of manuscripts and editorial policies, and we ask that authors read these prior to submission to the journal. However, we do not require every part of these instructions to be followed for an initial assessment. Below is a list of the essential minimal formatting and editorial policies that must be adhered to so our editors and reviewers can assess the manuscript fairly and easily.
On initial submission the editorial office staff sends the article to the Editor-in-Chief (EiC), or deputy editor if the EiC is conflicted. The EiC assesses if the article is within our scope and looks for evidence of suitability, quality, novelty, and interest to our readers. If the EIC deems the article may be suitable for peer review, then the editorial office will check for the following essential minimal formatting and editorial policies.

Editorial Staff check the following:

• Page numbers are present
• Line numbers are NOT present (we automatically include line numbers in the merged PDF)
• Title page of manuscript includes
  • Title
  • author
  • affiliations
  • contact information for corresponding author
• Conflict of Interest statement is present
• If needed, a Data Availability statement is present
• If needed, an Ethics Declaration is present
• Figures/Tables are high enough quality for review and each contains a legend
• The reference style is numerical
• Word, figure, and reference limits for article type are within stated limits
• If a Systematic Review: PRISMA checklist present and Figure 1 is the PRISMA flow diagram
• If a clinical trial: CONSORT checklist present and Figure 1 is the CONSORT flow diagram
• Large Excel spreadsheets are submitted as large excel
• The DNA Variant HGVS nomenclature verification Excel file is included (if applicable)

Formatting to the specifications of our full Instructions to Authors is only required if your article is deemed suitable for publication.



Our online submission system guides you stepwise through the process of entering your article details and uploading your files. The system converts your article files to a single PDF file used in the peer-review process. Editable files (e.g., Word, LaTeX) are required to typeset your article for final publication. All correspondence, including notification of the Editor's decision and requests for revision, is sent by e-mail.



Please submit your article via https://www.editorialmanager.com/genetmed.



Please go to Elsevier's Plagiarism detection policy here.



Please note that preprints can be shared anywhere at any time, in line with Elsevier's sharing policy. Sharing your preprints e.g. on a preprint server will not count as prior publication (see 'Multiple, redundant or concurrent publication' for more information). If your manuscript has been shared as a preprint please disclose this at the time of submission, or during the review process if this is when preprints are deposited.





This journal operates a single anonymized review process. All contributions will be initially assessed by the editor for suitability for the journal. Papers deemed suitable are then typically sent to a minimum of two independent expert reviewers to assess the scientific quality of the paper. The Editor is responsible for the final decision regarding acceptance or rejection of articles. The Editor's decision is final. Editors are not involved in decisions about papers which they have written themselves or have been written by family members or colleagues or which relate to products or services in which the editor has an interest. Any such submission is subject to all of the journal's usual procedures, with peer review handled independently of the relevant editor and their research groups. More information on types of peer review.



The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Please refer to Genetics in Medicine's guidelines and policies on eligibility to receive CME/CE credit for peer review of a manuscript under consideration with the journal.



We understand that it's disappointing having a manuscript rejected for publication in Genetics in Medicine (GIM). Some authors may wish to appeal the reject decision. While we will consider such appeals, GIM will only respond to those appeals where authors can provide strong evidence or new data that can alleviate the concerns of the reviewers and editors. We also reserve the right to rescind the offer to consider appeals at any time.

Appeals should be sent only to the GIM editorial offices at [email protected] in the form of an email addressed to the Editor-in-Chief and must be sent by the Corresponding Author. The correspondence should reference the details of the manuscript in question (i.e. the GIM manuscript number, title, first author name and corresponding author). In addition, the specific reason(s) for the appeal (e.g., concern that reviewers misunderstood key aspects of the manuscript) must be clearly stated. We reserve the right not to answer appeals that we consider frivolous or disrespectful. Please allow one week for a response.



Manuscripts must be submitted in clear, concise English with:

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

Tables and figures should also be uploaded as separate files in the submission system, using the appropriate file category. For initial submission, these figures should be high enough quality for review. If your paper is accepted for publication, higher resolution figures may be required.



The first page of the manuscript should include, in the following order:

1. title of paper
2. author's primary affiliations
3. a telephone number and e-mail address to whom correspondence concerning the manuscript should be sent

Please note: Use of the term "guideline" in an article title is restricted. ACMG conducts systematic reviews of current evidence to support the development of clinical practice guidelines. We therefore expect any article submitted to GIM with "guideline" in the title to be supported by a systematic review of current evidence or equivalent evidence synthesis. Allowing use of "guideline" in titles in other contexts will require justification by the authors and is at the discretion of the Editor in Chief. Please contact the editorial office at [email protected] with any queries.



GIM follows the authorship criteria of the ICMJE. To be an author of a manuscript you should fulfill all four criteria:

• Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work; AND
• Drafting the work or revising it critically for important intellectual content; AND
• Final approval of the version to be published; AND
• Agreement to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.

In addition to being accountable for the parts of the work he or she has done, an author should be able to identify which co-authors are responsible for specific other parts of the work. In addition, authors should have confidence in the integrity of the contributions of their co-authors. Authors should take care to give attribution to multi-author Workgroups, Consortia, or Committees, etc. that contributed to the work.

Authorship Disputes

The journal, its staff and board members, do not get involved in authorship disputes. During the peer review process if there is disagreement among the authors about any aspect of authorship, then the journal reserves the right to halt the peer review and/or publication process while the authors resolve the disagreement. If after publication the journal is informed of irregularities in the authorship, they will investigate, but will not become involved in the disagreement. For any questions, please contact the editorial office at [email protected].

Multi-author Workgroup or Consortium

When a large multi-author workgroup or Consortium has conducted or contributed to the work the corresponding author should specify the group name if one exists, and clearly identify the group members who can take credit and responsibility for the work as authors. The byline of the article identifies who is directly responsible for the manuscript, and MEDLINE lists as authors whichever names appear on the byline. If the byline includes a group name, MEDLINE will list the names of individual group members who are authors or who are collaborators, sometimes called non-author contributors, if there is a note associated with the byline clearly stating that the individual names are elsewhere in the paper and whether those names are authors or collaborators. When submitting your manuscript please:

• Include the name of the workgroup/consortia in the author byline on the Title Page.
• Do not include an affiliation with the workgroup/consortia on the Title Page.
• A separate list at the end of your manuscript file that contains the name of each workgroup/consortia and list each member/collaborator

If you would like the non-author contributing members/collaborators (not authors listed by name on the Title Page; for further information on authorship criteria see here) of the workgroup/consortia indexed in PubMed and listed in the published article, please also provide the following:

• A separate list at the end of your manuscript file that contains the name of each member/collaborator of the workgroup/consortia
• List each member/collaborator under the name of the designated workgroup/consortia that they are a part of
• Authors should take great care to list/acknowledge/include in authorship (whichever is accurate) a multi-author workgroup, committee, or Consortium when such groups have contributed to the work being submitted.

Please note GIM's policy on large author lists laid out in the print version. This only affects the PDF version of the article, the HTML and PubMed article will have the title then all authors listed underneath on the first page. If there is a large author list and the publisher cannot get everyone and their affiliations on the first page (with abstract and some intro text as well), the publisher will follow this sequence:

1. All names go on first page and affiliations on the last. The footnote will state "Affiliations are at the end of the document."


If that doesn't fit, then:
2. All names and affiliations go on the last page. The title will have underneath the wording "A full list of authors and affiliations appears at the end of the paper."

Where authors use generative artificial intelligence (AI) and AI-assisted technologies in the writing process, authors should:

• Only use these technologies to improve readability and language, not to replace key researcher tasks such as interpreting data or drawing scientific conclusions.
• Apply the technology with human oversight and control, and carefully review and edit the result, as AI can generate authoritative-sounding output that can be incorrect, incomplete or biased.
• Not list AI and AI-assisted technologies as an author or co-author, or cite AI as an author. Authorship implies responsibilities and tasks that can only be attributed to and performed by humans, as outlined in Elsevier's AI policy for authors.
• Disclose in their manuscript the use of AI and AI-assisted technologies in the writing process by following the instructions below. A statement will appear in the published work. Please note that authors are ultimately responsible and accountable for the contents of the work.

Disclosure instructions

Authors must disclose the use of generative AI and AI-assisted technologies in the writing process by adding a statement at the end of their manuscript in the core manuscript file, before the References list. The statement should be placed in a new section entitled 'Declaration of AI and AI-assisted technologies in the writing process'. Statement: During the preparation of this work the author(s) used [NAME TOOL / SERVICE] in order to [REASON]. After using this tool/service, the author(s) reviewed and edited the content as needed and take(s) full responsibility for the content of the publication. This declaration does not apply to the use of basic tools for checking grammar, spelling, references etc. If there is nothing to disclose, there is no need to add a statement.



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 articles, brief reports, and systematic reviews, the abstract must be structured to the journal style to include the headings: Purpose (the rationale for the study), Methods (a brief description of the 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.



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.



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.



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 somewhere else should be 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.



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. 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.



Please use the following terms:

• variant instead of mutation
• pathogenic variant to denote a disease-causing variant
• Single nucleotide polymorphism (SNP) is generally discouraged except for use in polygenic risk score (PRS) or GWAS (genome-wide association study) manuscripts: SNV (Single nucleotide variant) is also acceptable in such manuscript types. Note GWAS studies are generally low priority for GIM.
• heterozygote (rather than carrier) when referring to a person's genotype/genetic test result. Explanation: The usage is intended to deal with the issue that "heterozygote" describes the presence of a variant, regardless of classification, but "carrier" typically implies that the variant is disease-causing.
• carrier screening when referring to testing populations; 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
• genome sequencing instead of whole genome sequencing
• exome sequencing instead of whole exome sequencing
• cell-free DNA
  • In accordance with the ACMG, please use the term noninvasive prenatal screening (abbreviated as NIPS) and define it as the term used to describe cell-free DNA prenatal screening in the manuscript.
  • The term "cell-free DNA" can also be used. Once written, it should be abbreviated as cfDNA; no other abbreviated forms of this term are permitted.
  • NIPT (non invasive prenatal testing) should not be used and should be replaced by NIPS.
  • When using the term "cell-free DNA" to describe its application in settings other than prenatal (such as in oncology), after being defined in the manuscript as cell-free DNA, the abbreviation cfDNA should be used.
• Incidental findings when results are not being intentionally sought though they may be anticipated (known to be potentially associated with the test) or unanticipated (not typically associated)
• Secondary findings when results are actively sought but not the primary reason for testing
• chromosomal microarray analysis or CMA instead of array-based comparative genomic hybridization or aCGH. Explanation: current array platforms either do not utilize aCGH, or use it in combination with SNPs to detect both copy number and absence of heterozygosity. For all manuscripts, unless the focus of the manuscript is specifically aCGH we ask authors to use the term "chromosomal microarray analysis" or "CMA".
• When referring to persons included in research studies, 'participant' is preferred. A research 'participant' (preferred to subject'; see below) is a person who undergoes an intervention as part of a scientific investigation. A 'patient' is a person under medical care and 'patient' is not expected to be widely used in GIM articles; rather 'participant' or 'person' are generally preferred. 'Subject' (as in study/research subject) is impersonal, perhaps derogatory, suggesting a subservient role and should not be used.
• somatic vs acquired and germline vs constitutional
  retain consistency in use of these terms as much as possible, but there is flexibility to use what the authors thinks fits best in the context.
  General Principles:
  
  • “constitutional” refers to the context of cytogenetic testing, or to refer to chromosome testing results, but we do not expect that to be used for molecular testing. In other words, we prefer the authors use “germline” rather than “constitutional” to describe a germline variant (already the default in molecular)
  • We prefer the use of “somatic” for non-cancer somatic variants.
  • We allow the use of "acquired' or "somatic" for cancer-related somatic variants.

Please note: these terms are usually enforced during review, but we may also make those changes at copy editing if necessary.
For more information please refer to: Jarvik GP, Evans JP. Mastering genomic terminology.



When writing your manuscript please bear in mind the following:

• Is there a description in the methods section of race/ethnicity, sex/gender variables that were collected?
• Is the source of racial/ethnic, sex/gender classification reported? (e.g., database, electronic health record, survey)
• Is there a description of how participant race/ethnicity, sex/gender was assigned? (e.g., participant self-report, participant selection of pre-determined categories, investigator or clinician assignment)
• Participant self-report or selection is more rigorous than investigator- or clinician-assigned
• Is a scientifically-justified reason for collection of race/ethnicity, sex/gender data provided? Is a scientifically-justified reason for classification by sex vs. gender provided?
• Is race and/or ethnicity being used as a proxy for genetic ancestry?
• If so, this is inappropriate.
• Is sex being used as a proxy for gender or vice versa?
• In most cases this would be considered inappropriate
• Are White populations or European ancestry groups being used as reference categories in analysis?
• If so, is there a scientific justification for this comparison?
• In studies of genetic contributions to health disparities, are social determinants of health, environmental exposures and other likely-relevant variables included?
• If not, is the possible role of these non-genetic factors discussed as a limitation?
• Is the study providing findings from underrepresented populations?
• If not, is a rationale provided, and discussion of the limitations of the generalizability of the study?
• Are terms used that make assumptions about the gender of persons based on anatomy, physiology, or biology? For example, is "pregnant women" being used rather than "pregnant persons"? "Women" rather than "persons with uteruses"?
• Are study findings inclusive of LGBTQIA+ persons?
• If not, is a rationale provided, and discussion of the limitations of the generalizability of the study?

Inclusive language acknowledges diversity, conveys respect to all people, is sensitive to differences, and promotes equal opportunities. Content should make no assumptions about the beliefs or commitments of any reader; contain nothing which might imply that one individual is superior to another on the grounds of age, gender, race, ethnicity, culture, sexual orientation, disability or health condition; and use inclusive language throughout. Authors should ensure that writing is free from bias, stereotypes, slang, reference to dominant culture and/or cultural assumptions. We advise to seek gender neutrality by using plural nouns (“clinicians, patients/clients”) as default/wherever possible to avoid using “he, she,” or “he/she.” We recommend avoiding the use of descriptors that refer to personal attributes such as age, gender, race, ethnicity, culture, sexual orientation, disability or health condition unless they are relevant and valid. These guidelines are meant as a point of reference to help identify appropriate language but are by no means exhaustive or definitive.

Race, Ethnicity, and Genetic Ancestry
For race, ethnicity, and genetic ancestry terms please refer to "Updated Guidance on the Reporting of Race and Ethnicity in Medical and Science Journals published in JAMA" and follow the copy editing guidelines in the AMA Style guide.



Genetic disorders should be accompanied by their corresponding OMIM numbers if available. For details on OMIM numbers, please refer here. Otherwise, please include other suitable disease identifiers e.g. MONDO disease term.



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 Mice.



We expect articles submitted to an official journal of the ACMG will adhere to standards and guidelines promulgated in the ACMG/AMP classification of sequence variants and the ACMG consensus statement on reporting copy-number variants. For research reporting classification of newly described variants or reclassification of variants, we require authors to describe the variants using the ACMG/AMP classification system. Variant scoring results should be listed in a table (this can be supplementary).
For manuscripts reporting previously classified variants whose classification was assigned using a different standard, we will accept that classification with proper documentation and explanation in the methods section. However, including the ACMG/AMP classification of that sequence variant alongside the previous classification is strongly encouraged. We are aware that other classification standards exist and in special cases with prior discussion with the editorial office, newly described variants may be classified using other standards, but generally with ACMG/AMP classification also listed. Please contact the editorial office at [email protected] for questions or further details.

Authors may choose to use bioinformatic tools to aid the process of variant classification but the authors are ultimately responsible for verifying that the data generated through use of those tools is accurate and up to date.



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) 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, Global Variome, or 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). Acceptance and/or publication may be delayed if authors do not follow these guidelines.

Please visit HGVS for the latest nomenclature updates, for examples of acceptable nomenclature, guidance concerning reference sequences, or if you have further questions.
The most common issue we find with articles submitted to our journal is that they are missing reference sequences. These must be used for reporting sequence variants. If all variants refer to the same reference sequence, please include a line to that effect in the methods. Then the reference sequence need not be included with every variant. However, if you have more than 10 variants to report with different reference sequences, please consider including a supplementary table.
Compliance with HGVS nomenclature must be verified using variant description validation software, for example VariantValidator or Mutalyzer.

VariantValidator
VariantValidator provides two ways to validate variant descriptions depending on the number of variants you have to validate:

1. Submission of up to 10 variants Click here https://variantvalidator.org/service/validate/. Input each variant as prompted on the webpage then find the "Print PDF" button under the "Recommended Variant Descriptions" table. Save a copy of each PDF and upload each PDF with your submission.
2. Submission of 10 or more variants Click here https://variantvalidator.org/service/validate/batch/ to use the batch tool. Instructions for this tool can be found here and help is available at https://variantvalidator.org/help/contact/. Please upload the results with your submission as an Excel table that includes all the variants.

Mutalyzer
Submissions to the Mutalyzer program should be made at https://mutalyzer.nl/batch-jobs. Instructions are available at https://github.com/mutalyzer/mutalyzer2/wiki/Batch-Checkers. Please upload the results with your submission as an Excel table that includes all the variants.
If you receive errors or warnings, these are provided as guidance to authors and editors to help you report your variants according to the recommendations. 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/. There is also a new chat feature in beta: to https://gitter.im/variantValidatorDiscuss/community Mutalyzer: [email protected]
These tools are freely available on the web and rely on funding from their host universities, grant income and community contribution. Please support these tools by citing them in your manuscript if they have been helpful or by making a contribution to their chosen charities and providing a supportive comment. These contributions really help when it comes to securing funding and helps keep the software free.

Citing the tools
VariantValidator:
Freeman, PJ, Hart, RK, Gretton, LJ, Brookes, AJ, Dalgleish, R. VariantValidator: Accurate validation, mapping and formatting of sequence variation descriptions. Human Mutation. 2018; 39: 61- 68. https://doi.org/10.1002/humu.23348.
Mutalyzer:
Wildeman, M., van Ophuizen, E., den Dunnen, J.T. and Taschner, P.E. (2008), Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker. Hum. Mutat., 29: 6-13. https://doi.org/10.1002/humu.20654

Acceptance and/or publication may be delayed if authors do not follow these guidelines.



Please follow International Union of Biochemistry and Molecular Biology guidelines on the three letter codes that should be used to describe amino acids.

Important considerations include:

• 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 whereapplicable (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 havebeen 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-codingvariation, including those variants identified in GWAS studies (e.g., NC_000017.11:g.50201450C>T). Variants may alsobe described using dbSNP genomic location identifiers, in addition to approved nomenclature, if the specific nucleotidechange is also included.

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



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, 11th edition, pages 932.



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.



When representing a human pedigree, please refer to here.



Data Availability*, Acknowledgments, Funding Statement*, Author Contributions*, Ethics Declaration*, Conflict of Interest* should appear at the end of the manuscript in this order. Those marked with an asterisk are required for Articles, Education Reports, Brief Reports, and other article types as applicable.



GIM requires data sharing, without embargo, except for the very specific exceptions described below, and requires published manuscripts include a statement of data availability. For examples of Data Availability statements see published articles here: https://www.gimjournal.org/inpress.

Authors can choose to supply their data and materials individually upon request or deposit their data in a suitable repository. Individuals or groups cannot be explicitly excluded from access to the data/materials, although privacy guidelines and/or regulations may limit or restrict sharing to certain individuals such as those trained in human subjects research and privacy protections. If that is the case, please state so within the Data Availability statement along with a URL or other contact information directing requesters to the appropriate contact for making a request for data access.

There are many data repositories available (examples at https://www.re3data.org/) and we encourage authors to follow FAIR Data Principles. Namely, data must be findable, accessible, interoperable and reusable. If the data is to be deposited in a repository, this must be done prior to acceptance. Please include a URL link to that repository as well as a persistent identifier (e.g., a DOI for the data, or an accession number).

GIM acknowledges that it is typically not possible or appropriate to share identifiable data, so it is not necessary to address identifiable data in the Data Availability Statement. However, GIM expects that institutional privacy policies and IRBs will permit the sharing of deidentified individual data derived from clinical records or sources (e.g., survey data). If you believe that a privacy or patient consent issue would not permit the sharing of deidentified data, you must give a detailed explanation as to the precise limitations and reasons for those limitations on data sharing, including specifying what subset of data can be shared. It is not sufficient to merely state that a privacy or patient consent issue limits sharing without providing these additional details.



At GIM we recognize that data sharing for qualitative research can be difficult as the rich information included in this data often make it both sensitive and highly identifiable. We are, nonetheless, committed to transparency in research and the availability of data for the purposes of replication or verification of the findings that are drawn from the data.

Our preferred strategy for data sharing in qualitative projects is to make redacted transcripts available on request. We understand you might wish to place requirements on who can receive this data to ensure that the applicants are qualified and for what purposes the data is to be reused. When qualitative data is particularly identifying or sensitive, we will also accept a data availability plan that does not commit to sharing full transcript data, but instead makes relevant, unpublished short segments of interviews available to other investigators for the purposes of verifying or contextualizing your conclusions.



Acknowledgments should be brief. If expressing appreciation to another individual for assistance with the research or manuscript, enclose written permission from each individual named in this section 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.



Include all sources of support including sponsorship (e.g., university, charity, commercial organization) and sources of material (e.g., novel drugs) not available commercially.



GIM adheres to the ICMJE guidelines to define authorship. Please click here and 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:

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: 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.



Overview
Genetics in Medicine is committed to ensuring the research it publishes meets the highest ethical standards. In order to qualify for publication in Genetics in Medicine, all studies involving human participants, individual-level data collected from humans, or bio-samples collected from humans must receive written approval or explicit exemption from an Institutional Review Board (IRB) or Research Ethics Committee (REC). At the sole discretion of the editors, authors may be required to submit original documentation verifying IRB/REC review, participant consent, author affiliation and/or employment, etc. Agreement to provide this documentation on request is a condition of publication.
Research that does not qualify for submission to an IRB or REC in any of the researchers' jurisdictions may qualify for an exception at the sole discretion of the editors, but the strong presumption is that all research involving humans will be submitted to an IRB or REC, and either receive approval or receive a confirmation that the research is exempt from formal review.

Information Necessary for Ethics Declarations
Each manuscript that reports experiments on studies involving human subjects or live vertebrates and/or higher invertebrates, must include a section on ethics. It should be listed after the Acknowledgements, contained at the end of the manuscript file, and be titled "Ethics Declaration".
Please include the following in the Ethics Declaration:

• The name of the Institutional Review Board (IRB) or Research Ethics Committee (REC) that reviewed the study.
  • If participant samples or data were obtained from multiple institutions and a "single IRB (sIRB)" or "central IRB (cIRB)" approved the study, please provide the name of the IRB that served as the sIRB or cIRB.
  • If participant data was obtained from multiple institutions and a "single IRB (sIRB)" or "central IRB (cIRB)" was NOT utilized, please provide the name of the "main" IRB. The "main" IRB will typically be the IRB of the first or corresponding authors' institution. In this circumstance, the ethics statement must also state that all institutions involved in human participant research received local IRB approval (although it is only necessary to list the actual name of the "main" IRB).

As noted above, our editorial policy is that research involving humans will receive IRB or REC approval or a waiver, so all institutions involved in this research must be included in either a sIRB or cIRB approval, a local IRB or REC approval, or a waiver from one of these.

• An explicit statement of whether informed consent was required.
  • If informed consent was required, the Ethics Declaration should contain an affirmative statement that informed consent was obtained from all participants as required by the IRB or REC.
  • If informed consent was not required, the Ethics Declaration should contain a brief explanation of why it was not required in this case.
• For research involving the use of individual-level data, including clinical data, state whether the data was de-identified.
• If any individual patient/person data is included, the statement must include wording that the author received and archived written patient consent. For research articles, if authors cannot obtain consent to publish individual data, they may only provide summary results. Exclusions to this include:
  • The patients are de-identified
  • The patients are dead
  • There has been a waiver granted by the IRB
• For samples obtained from biobanks, include information about the biobank and detail what permissions were used to collect samples. Please also include a link to the biobank's website and at least one reference reporting on the ethical collection of samples for that biobank.
• Newborn screening bloodspot samples:
  • Studies that use newborn screening bloodspot samples for research purposes require IRB/REC approval or waiver (retrospective IRB approval/waiver is acceptable).
  • Studies using newborn screening bloodspot samples within the NBS program in which they were collected for programmatic purposes such as test development or evaluation of test performance, may or may not require IRB/REC approval depending on specific state statutes, whether samples are deidentified, and whether individuals will be identified and/or contacted regarding results. Authors should provide either a standard statement naming the IRB/REC granting approval or waiver, or an explanation of the rationale for no such review.
• All human studies must adhere to the principles set out in the Declaration of Helsinki.
• Publication of photographs or images of patients must have explicit and separate permission from the patient or their legal guardian. For more information, please review the Elsevier Policy on the Use of Images or Personal Information of Patients or other Individuals. Please state in the ethics declaration that permission was obtained to publish patient photos or images.
• In the case of articles describing human transplantation studies, authors must include a statement declaring that no organs/tissues were obtained from prisoners and that the study complies with the Declaration of Istanbul.
• For animal research, please state the name of the Institutional Animal Care and Use Committee (IACUC) or equivalent body approving the research study. If exemptions are being claimed, please also state this and provide the name of the IACUC (or equivalent body) providing the exemption. All animal experiments should comply with the ARRIVE guidelines and should be carried out in accordance with the U.K. Animals (Scientific Procedures) Act, 1986 and associated guidelines, EU Directive 2010/63/EU for animal experiments, or the National Institutes of Health guide for the care and use of Laboratory animals (NIH Publications No. 8023, revised 1978) and the authors should clearly indicate in the manuscript that such guidelines have been followed. The sex of animals must be indicated, and where appropriate, the influence (or association) of sex on the results of the study.

Ethics Attestation
GIM will require a signed author attestation for manuscripts that involve human subjects research, newborn screening samples, and certain types of surveys. If your research falls within one of these categories, the editorial office will notify the corresponding author and request that the corresponding author collects signatures (electronic signatures are acceptable) from each contributing author attesting to the statement below:

[ ] I attest that the research included in this report was conducted in a manner consistent with the principles of research ethics, such as those described in the Declaration of Helsinki and/or the Belmont Report. In particular, this research was conducted with the voluntary, informed consent of any research participants, free of coercion or coercive circumstances, and received Institutional Review Board (IRB) or Research Ethics Committee (REC) approval consistent with the principles of research ethics and the legal requirements of the lead authors' jurisdiction(s).

All authors should complete the attestation as all authors should be able to identify which co-authors are responsible for specific other parts of the work. In addition, authors should have confidence in the integrity of the contributions of their co-authors.



A conflict of interest statement is required for all manuscripts.



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 and in the conflict of interest section of the manuscript. In cases where the authors declare a competing financial interest, a statement to that effect is published as part of the article. If no such conflict exists, the statement will simply read that the authors have nothing to disclose.
For the purposes of this statement, competing interests are defined as those of a financial nature that, through their potential influence on behavior or content, or from perception of such potential influences, could undermine the objectivity, integrity or perceived value of a publication. They can include any of the following:

• Funding: Research support (including salaries, equipment, supplies, reimbursement for attending symposia, and other expenses) by organizations that may gain or lose financially through this publication. The role of the funding body in the design of the study, collection and analysis of data and decision to publish should be stated.
• Employment: Recent (while engaged in the research project), present or anticipated employment by any organization that may gain or lose financially through this publication.
• Personal financial interests: Stocks or shares in companies that may gain or lose financially through publication; consultation fees or other forms of remuneration from organizations that may gain or lose financially; patents or patent applications whose value may be affected by publication.

Following the conflict of interest declaration there must be a listing for each author, detailing the names of organizations, institutions, companies, and individuals, including intermediaries such as subcontractors or conference organizers, from whom they have received compensation for professional services in any of the previous three years, or from whom they anticipate receiving such compensation in the near future, whether or not these affiliations appear to have any relevance to the topic covered in the submission. Neither the precise amount received from each entity nor the aggregate income from these sources needs to be provided.
Professional services include any activities for which the individual is, has been, or will be compensated with cash, royalties, fees, stock or stock options in exchange for work performed, advice or counsel provided, or for other services related to the author's professional knowledge and skills. This would include, but not necessarily be limited to, the identification of organizations from which the author received contracts or in which he or she holds an equity stake if professional services were provided in conjunction with the transaction.
The authors are expected to disclose any other financial holdings or considerations, such as stocks, bonds or donations of supplies or equipment that a reasonable person could construe as possibly influencing the objectivity of the report. When there is uncertainty about what should be listed, it is best to disclose all holdings or affiliations to ensure that there is no question about intent to withhold information. Authors should communicate with the editorial office if they have questions about this policy.

Examples of declarations are:

1. Disclosure: The authors declare no conflict of interest.
2. Disclosure: Dr. Caron's work has been funded by the NIH. He has received compensation as a member of the scientific advisory board of Acadia Pharmaceutical and owns stock in the company. He also has consulted for Lundbeck and received compensation. Dr. Rothman and Dr. Jensen declare no potential conflict of interest.

If subsequent to publication it is learned that relevant information was not disclosed, a corrigendum describing the infraction will be published in the journal and linked to the article in PubMed. In addition, the published article may be retracted with a statement describing the nondisclosure and restrictions may be placed on future publications in the journal, solely at the discretion of the editor and College.



A. Editors for GIM disclose all potential conflicts of interest (COI) on an annual basis, and update as necessary during the year. The information is collected, and held on record by, the ACMG. Potential conflicts include serving on the board of another journal, and financial or professional relationships with entities, both for-profit and non-profit.
B. Editors will recuse themselves from the handling or review of any manuscript if a potential conflict of interest exists, including submissions from the editor's home institution(s); submissions from individuals with whom the editor has closely collaborated in the last 3 years; submissions from entities or individuals with which the editor is significantly financially or professionally involved; or with whom the editor has a close personal relationship; or has a professionally competitive or adverse personal or professional relationship. Clinicians and scientists in our field are often involved in big science or team science, so that they often collaborate with dozens or more co-authors on manuscripts. In addition, some of our editors are prolific authors, publishing dozens of manuscripts annually. Therefore, simple co-authorship is not by itself always grounds for recusal; collaboration defined as a close working relationship in the past three years is grounds for recusal. In addition, editors/reviewers frequently participate in very large collaborative consortia (e.g. ClinGen, Center for Mendelian Genomics, Undiagnosed Disease Network). Editors/reviewers are not automatically expected to recuse themselves from handling articles from these consortia simply by nature of their own involvement in the consortia unless they believe they are conflicted (e.g. due to academic collaboration or competition) and/or if the article overlaps in topic and substance with work they are doing or have been involved in in the past 12 months and/or if they are authors or acknowledged. If editors/reviewers receive support from these consortia outside of non-industry research grant funding they should recuse themselves.

The following do not typically represent conflicts:

• An article originates from an organization where the editor has collaborators, but the collaborators are not listed as authors.
• The editor is a member of a large research or other professional network that involves an author or authors on the manuscript and the editor was not involved in the work described in the manuscript nor listed as a co-author or acknowledged.
• The editor is a co-author of a non-research publication (e.g., review, commentary) or a mega-multi-authored publication with an author or authors on a manuscript.

Any questions about this policy will be adjudicated by the editorial office. ([email protected]). Any questions about this policy will be adjudicated by the editorial office.
C. An editor who is an author on any manuscript submitted to GIM will be blinded to that submission in the submission system. Another editor from the board will be assigned to handle such submissions confidentially.



When asked to review for Genetics in Medicine reviewers should assess their own personal conflicts of interest with the manuscript and authors.
Potential conflicts include:

• financial or professional relationships with entities, both for-profit and non-profit.
• sharing employer with the author(s) [this is not necessarily a conflict, please contact the editorial office for guidance]
• submissions from individuals with whom the reviewer has closely collaborated in the last 3 years
• submissions from entities or individuals with which the reviewer:
• is financially or professionally involved
• has a close personal relationship
• has a professionally competitive or adverse personal or professional relationship.

Clinicians and scientists in our field are often involved in big science or team science (e.g. ClinGen, Center for Mendelian Genomics, Undiagnosed Disease Network), so that they often collaborate with dozens or more co-authors on manuscripts. In addition, some reviewers are prolific authors, publishing dozens of manuscripts annually. Therefore, simple co-authorship is not by itself always grounds for recusal; collaboration defined as a close working relationship in the past three years is grounds for recusal.

The following do not typically represent conflicts:

• An article originates from an organization where the reviewer has collaborators, but the collaborators are not listed as authors.
• The reviewer is a member of a large research or other professional network that involves an author or authors on the manuscript and the reviewer was not involved in the work described in the manuscript nor listed as a co-author or acknowledged.
• The reviewer is a co-author of a non-research publication (e.g., review, commentary) or a mega-multi-authored publication with an author or authors on a manuscript.

Any questions about this policy and when to recuse oneself as a reviewer should be referred to the editorial office.



Although a graphical abstract is optional, its use is encouraged as it draws more attention to the online article. The graphical abstract should summarize the contents of the article in a concise, pictorial form designed to capture the attention of a wide readership. Graphical abstracts should be submitted as a separate file in the online submission system. Image size: Please provide an image with a minimum of 531 × 1328 pixels (h × w) or proportionally more. The image should be readable at a size of 5 × 13 cm using a regular screen resolution of 96 dpi. Preferred file types: TIFF, EPS, PDF or MS Office files. You can view Example Graphical Abstracts on our information site.
We will feature the graphical abstract in the electronic Table of Contents for the issue the article appears in and will post the graphical abstract on GIM's social medical channels on Facebook and Twitter to promote the article.
The graphical abstract 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 review and resubmit their manuscripts to include a graphical abstract with their revision.

Examples
Please see here for three examples of GIM graphical abstracts.

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

• Anna Clemens, PhD (blog post)
• A Surgeon's Journey Through Research and Design
• "Seeing is believing: good graphic design principles for medical research" Stat Med 2015 Sep 30;34(22):3040-59. DOI: 10.1002/sim.6549
• Public Health Image Library
• Examples from the CDC (from published articles)

Software to help compose the graphical abstract:

• Seyens
• Biorender
• Mind the Graph (Video Tutorial available)

Please make sure that artwork files are in an acceptable format (TIFF (or JPEG), EPS (or PDF), or MS Office files) and with the correct resolution. If, together with your accepted article, you submit usable color figures then Elsevier will ensure, at no additional charge, that these figures will appear in color online (e.g., ScienceDirect and other sites) regardless of whether or not these illustrations are reproduced in color in the printed version. For color reproduction in print, you will receive information regarding the costs from Elsevier after receipt of your accepted article. Please indicate your preference for color: in print or online only. Further information on the preparation of electronic artwork.

Figures and images should be labeled sequentially, numbered, and cited in the text. Figure legends should be brief, specific and appear on a separate manuscript page after the References section. Refer to (and cite) figures specifically in the text of the paper. Figures should not be embedded within the text. If a table or figure has been published before, the authors must obtain written permission to reproduce the material in both print and electronic formats from the copyright owner and submit it with the manuscript. This follows for quotes, illustrations and other materials taken from previously published works not in the public domain. The original source should be cited in the figure caption or table footnote. Do not use three-dimensional histograms when the addition of the third dimension gives no extra information. Scale markers should be used in images taken on a microscope and indicate the type of stain used. Please note that red and green must not be used together in a figure as some readers cannot perceive a difference between them.



Tables must be cited in the text. Each table must begin on a separate page. The table number should be Arabic followed by a period and a brief informative title. Use the same type as used for the text. Supply a brief heading for each column. Indicate footnotes to tables with lower case, superscript, italic letters. Create tables using the table creating and editing feature of your word processing software (e.g., Word, WordPerfect). Excel or comparable spreadsheet programs can be used for large tables that will be published online-only. Do not sub-divide into Table 1A, 1B etc. Tables are not designed to include color. If color is critical to your table, please submit it as a figure file.

For image data please present the images with minimal alterations. Specifically:

• No specific feature within an image may be enhanced, obscured, moved, removed, or introduced.
• Adjustments of brightness, contrast, or color balance are acceptable if they are applied to the whole image, and as long as they do not obscure or eliminate any information present in the original.
• The grouping of images from different parts of the same gel, or from different gels, fields, or exposures must be made explicit by arrangement of the figure (i.e., using dividing lines) and in the text of the figure legend.
• If the original data cannot be supplied by the author upon request, the acceptance of the manuscript may be revoked.

For further details please refer to the article “What's in a picture? The temptation of image manipulation” by Rossner and Yamada (J Cell Biol 166;11-15, 2004).
Please also be prepared to supply the original, unaltered images for editorial review if requested.





Text: Indicate references by (consecutive) superscript arabic numerals in the order in which they appear in the text. The numerals are to be used outside periods and commas, inside colons and semicolons. For further detail and examples you are referred to the AMA Manual of Style, A Guide for Authors and Editors, 11th Edition, ISBN 0-978-0-19-024656-3.
List: Number the references in the list in the order in which they appear in the text.

Examples: Reference to a journal publication:
1. Van der Geer J, Hanraads JAJ, Lupton RA. The art of writing a scientific article. J Sci Commun. 2010;163:51-59. https://doi.org/10.1016/j.Sc.2010.00372
Reference to a journal publication with an article number:
2. Van der Geer J, Hanraads JAJ, Lupton RA. The art of writing a scientific article. Heliyon. 2018;19:e00205. https://doi.org/10.1016/j.heliyon.2018.e00205
Reference to a book:
3. Strunk W Jr, White EB. The Elements of Style. 4th ed. Longman; 2000.
Reference to a chapter in an edited book:
4. Mettam GR, Adams LB. How to prepare an electronic version of your article. In: Jones BS, Smith RZ, eds. Introduction to the Electronic Age. E-Publishing Inc; 2009:281-304.
Reference to a website:
5. Cancer Research UK. Cancer statistics reports for the UK. Accessed 13 March 2003. http://www.cancerresearchuk.org/aboutcancer/statistics/cancerstatsreport/
Reference to a dataset:
[dataset] 6. Oguro M, Imahiro S, Saito S, Nakashizuka T. Mortality data for Japanese oak wilt disease and surrounding forest compositions, Mendeley Data, v1; 2015. https://doi.org/10.17632/xwj98nb39r.1
Reference to software:
7. Coon E, Berndt M, Jan A, et al. Advanced Terrestrial Simulator (ATS) v0.88 (Version 0.88). Zenodo; 2020, March 25. https://doi.org/10.5281/zenodo.3727209



Increased discoverability of research and high quality peer review are ensured by online links to the sources cited. In order to allow us to create links to abstracting and indexing services, such as Scopus, CrossRef and PubMed, please ensure that data provided in the references are correct. Please note that incorrect surnames, journal/book titles, publication year and pagination may prevent link creation. When copying references, please be careful as they may already contain errors. Use of the DOI is highly encouraged.
A DOI is guaranteed never to change, so you can use it as a permanent link to any electronic article. An example of a citation using DOI for an article not yet in an issue is: VanDecar J.C., Russo R.M., James D.E., Ambeh W.B., Franke M. (2003). Aseismic continuation of the Lesser Antilles slab beneath northeastern Venezuela. Journal of Geophysical Research, https://doi.org/10.1029/2001JB000884. Please note the format of such citations should be in the same style as all other references in the paper.



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. We will be asking our editors and reviewers to look over these checklists, when included, as part of the review process. Adhering to published guidelines will be seen as a positive factor when your manuscript is reviewed by both the editorial staff and external reviewers.
Based on the type of studies that GIM publishes, here is a partial list of guidelines that may apply. However, this is not an exhaustive list. We encourage potential authors to seek established guidelines and checklists that pertain to their research and use those that they feel may enhance the validity of their work:

• Consolidated Health Economic Evaluation Reporting Standards (CHEERS) Statement
• Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
• ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
• American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
• Strengthening the Reporting of Genetic Association Studies (STREGA): An Extension of the STROBE Statement
• Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors
• Nomenclature of gene variations and guidelines on variation databases
• An introduction to standardized clinical nomenclature for dysmorphic features: the Elements of Morphology project
• Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)
• The HuGENet^TM HuGE Review Handbook, version 1.0. Guidelines for system- atic review and meta-analysis of gene disease association studies
• Publication of population data for forensic purposes
• Reporting genetic results in research studies: summary and recommendations of an NHLBI working group
• Gene expression-based prognostic signatures in lung cancer: ready for clinical use?
• REporting recommendations for tumour MARKer prognostic studies (REMARK)
• Strengthening the reporting of Genetic Risk Prediction Studies: the GRIPS Statement
• Standards for Reporting Implementation Studies (StaRI) Statement

An optional checklist for inclusion, that GIM provides for all original research articles was instigated at the request of the NIH: Transparency of reporting and the reproducibility of published results, focusing on elements of methodological information that are usually poorly reported. Authors MUST supply that checklist at the revision stage. The Reporting Checklist will be provided in the initial decision letter.



Supplementary material such as applications, images and sound clips, can be published with your article to enhance it. Submitted supplementary items are published exactly as they are received (Excel or PowerPoint files will appear as such online). Please submit your material together with the article and supply a concise, descriptive caption for each supplementary file. If you wish to make changes to supplementary material during any stage of the process, please make sure to provide an updated file. Do not annotate any corrections on a previous version. Please switch off the 'Track Changes' option in Microsoft Office files as these will appear in the published version.





This journal makes articles available online as soon as possible after acceptance. This concerns the Journal Pre-proofs (both in HTML and PDF format), which have undergone enhancements after acceptance, such as the addition of a cover page and metadata, and formatting for readability, but are not yet the definitive versions of record. A Digital Object Identifier (DOI) is allocated, thereby making it fully citable and searchable by title, author name(s) and the full text. The article's PDF also carries a disclaimer stating that it is an unedited article. Subsequent production stages will simply replace this version.



To ensure a fast publication process of the article, we kindly ask authors to provide us with their proof corrections within two days. Corresponding authors will receive an e-mail with a link to our online proofing system, allowing annotation and correction of proofs online. The environment is similar to MS Word: in addition to editing text, you can also comment on figures/tables and answer questions from the Copy Editor. Web-based proofing provides a faster and less error-prone process by allowing you to directly type your corrections, eliminating the potential introduction of errors.
If preferred, you can still choose to annotate and upload your edits on the PDF version. All instructions for proofing will be given in the e-mail we send to authors, including alternative methods to the online version and PDF.
We will do everything possible to get your article published quickly and accurately. Please use this proof only for checking the typesetting, editing, completeness and correctness of the text, tables and figures. Significant changes to the article as accepted for publication will only be considered at this stage with permission from the Editor. It is important to ensure that all corrections are sent back to us in one communication. Please check carefully before replying, as inclusion of any subsequent corrections cannot be guaranteed. Proofreading is solely your responsibility.



Authors are also strongly encouraged to inform the editorial office at Genetics in Medicine of impending press releases to facilitate communication between the editorial office, authors and institutes involved in the publication of the article. For these purposes, we will hold publication of the article for up to seven days to allow coordination of press-related activities. In addition, the journal and the college require the press release to include the statement that the article is published in "Genetics in Medicine, an official journal of the American College of Medical Genetics and Genomics (ACMG)".
Any media interviews about ACMG documents such as ACMG Statements and Guidelines must be coordinated by the ACMG Senior Director of Communications and Public Relations, Kathy Moran, MBA, [email protected].



The corresponding author will, at no cost, receive a customized Share Link providing 50 days free access to the final published version of the article on ScienceDirect. The Share Link can be used for sharing the article via any communication channel, including email and social media. For an extra charge, paper offprints can be ordered via the offprint order form which is sent once the article is accepted for publication. Both corresponding and co-authors may order offprints at any time via Elsevier's Author Services. Corresponding authors who have published their article gold open access do not receive a Share Link as their final published version of the article is available open access on ScienceDirect and can be shared through the article DOI link.



Visit the Elsevier Support Center to find the answers you need. Here you will find everything from Frequently Asked Questions to ways to get in touch. You can also check the status of your submitted article or find out when your accepted article will be published.



All queries should be directed to the Executive Managing Editor (EME) Jan Higgins, PhD at [email protected]. In the event a complaint is against Dr Higgins please contact Kyle Brothers, MD, PhD, Chair, Ethics Advisory Committee, at [email protected].

All complaints against the journal editors, reviewers, authors or staff are handled in strict confidence. The EME will bring the complaint to the attention of the Editor-in-Chief or Deputy Editor-in-Chief (EIC or DEIC), as appropriate, unless the complaint is against the EME. It will then be the Editor's decision as to whether the complaint merits further action.

The Editor may enlist the assistance of the Chair of the Journals' Ethics Advisory Committee, the Publisher, or the ACMG lawyer, Chief Executive Officer (CEO) and/or Board of Directors, or other professionals, as appropriate, to help determine the merits of the complaint, if any.

In reviewing complaints and determining any actions that might arise from them, resources such as COPE, CSE, ICMJE and other industry standards will be consulted, as appropriate.

Complaints against the Publisher will be communicated to the ACMG CEO and will be forwarded to the Publisher for the Publisher to investigate and potentially take any action, keeping the CEO informed throughout the process.

Complaints alleging Journal staff misconduct: Allegations of journal staff misconduct (excluding the EIC/DEIC who are not ACMG employees) are reported to the ACMG CEO who will follow standard ACMG personnel policies and procedures for investigation and handling of the allegations.