Copyright, Reporting Guidelines and Data Policy
Copyright/License to Publish
ACMG does not require authors of original research papers to assign copyright of their published contributions. Authors grant ACMG an exclusive license to publish, in return for which they can re-use their papers in their future printed work. For questions regarding rights please contact Springer Nature directly at email@example.com.
Open access and self-archiving
Self-archiving and manuscript deposition (green open access)
Authors of original research articles are encouraged to submit the author's version of the accepted paper (the unedited manuscript) to a repository for public release six months after publication. Springer Nature also offers a free, opt-in Manuscript Deposition Service for original research articles in order to help authors fulfil funder and institutional mandates.
A number of research funding agencies now require or request authors to submit accepted articles (after peer review and acceptance, but before the final published article) to a repository that is accessible online by all without charge. As a service, Springer Nature and Genetics in Medicine can help authors fulfill these mandates by archiving your manuscript in PubMed Central and/or UK PubMed Central on your behalf. Authors can select this option and provide details on their funding agencies during submission. A list of funders that Springer Nature deposits on behalf of is available here.
All authors are encouraged to submit their version of the accepted, peer-reviewed manuscript to their funding body’s archive, for public release six months after publication. In addition, authors are encouraged to archive their version of the manuscript in their institution’s repositories (as well as on their personal web sites), also six months after the original publication. Authors should cite the publication reference and doi number on any deposited version, and provide a link from it to the published article on the Springer Nature website. This policy complements the policies of the US National Institutes of Health, the Wellcome Trust and other research funding bodies around the world. Springer Nature recognizes the efforts of funding bodies to increase access of the research they fund, and strongly encourages authors to participate in such efforts.
Open access publication (gold open access)
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- Self-archiving and deposition
Compliance with open access mandates
Springer Nature’s open access journals allow authors to comply with all funders' open access policies worldwide. Authors may need to take specific actions to achieve compliance with funder and institutional open access mandates, including the principles of “Plan S”.
Retrospective open access
Authors who initially opted to publish their paper under the subscription model in a hybrid journal may be able to retrospectively pay an article processing charge (APC) to make their paper open access. To request retrospective open access for an article that has already been published, please contact the Open Research Support Team at ORSupport@springernature.com with your Article’s title, DOI and Journal name.
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Waiver of institutional open access policies
Please note that Harvard University FAS, MIT, Princeton, UCSF, University of Hawaii at Manoa, California Institute of Technology (Caltech) and the Georgia Institute of Technology have enacted Open Access policies that conflict with our own policy for articles published via the subscription route. If any corresponding or contributing authors are from these institutions, you may need to provide a waiver from the institution of every affected author, which can be obtained from the institution. If such a waiver is required, please provide them along with your final files. This requirement does not apply to articles published via the open access route.
To facilitate self-archiving we deposit open access articles in PubMed Central and Europe PubMed Central on publication if the article meets the PMC deposition guidelines; full details of our deposition policies are found under the “Self-archiving, manuscript deposition, and digital preservation” information here. Authors are also permitted to post the final, published PDF of their article on a website, institutional repository or other free public server immediately on publication.
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™ 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
The only mandatory checklist that GIM imposes on 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.
Randomized Clinical Trials
All clinical trial data must comply with the Consolidated Standards of Reporting Trials (CONSORT). Please complete the checklist and flow diagram and include the flow diagram as Figure 1 in your manuscript.
Research Data Policy
GIM requires data sharing, except for the very specific exceptions described below, and requires published manuscripts include a statement of data availability.
Authors can choose to supply their data and materials individually upon request (without excluding individuals or groups from access to the data/materials) or deposit their data in a suitable repository. 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. The “Data Availability” section of your manuscript should include a statement on how the data and materials can be accessed. 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).
Genetics in Medicine 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. 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.
Publication of Clinical Datasets (adapted from here)
For datasets containing clinical data, authors have an ethical and legal responsibility to respect participants’ rights to privacy and to protect their identity. Ideally, authors should gain informed consent for publication of the dataset from participants at the point of recruitment to the trial. If this is not possible, authors must demonstrate that publication of such data does not compromise anonymity or confidentiality or breach local data protection laws, for the dataset to be considered for publication. Authors must consider whether the dataset contains any direct or indirect identifiers (see here for further information) and consult their local IRB or ethics committee or another appropriate body before submission if there is any possibility that participants will not be fully anonymous. Authors must state in their manuscript upon submission whether informed consent was obtained for publication of patient data (click for further details).
Software and code (adapted from here)
Any previously unreported software application or custom code described in the manuscript should be available for testing by reviewers in a way that preserves their anonymity. The manuscript should include a description in the “Data Availability” section of how the reviewers can access the software application or custom code. This section should include a link to the most recent version of your software or code (e.g. GitHub or Sourceforge) as well as a link to the archived version referenced in the manuscript. The software or code should be archived in an appropriate repository with a DOI or other unique identifier. If published, the software application/tool should be readily available to any scientist wishing to use it for non-commercial purposes, without restrictions (such as the need for a material transfer agreement). If the implementation is not made freely available, then the manuscript should focus clearly on the development of the underlying method and not discuss the tool in any detail, though manuscripts focusing on method development are generally low priority for the Journal.
Last Updated: January 2021