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Npj Genomic Medicine

npj Genomic Medicine is part of the npj Series and is published in partnership with the Center of Excellence in Genomic Medicine Research. The journal publishes genomic medicine research articles and featured content.

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Subject Genetics & Heredity
Impact Factor 4.8
Quartile Q1
Open Access Type Open
eISSN 2056-7944
Invitation Only No
Cost Range Article processing charge (APC) applies; current APCs and waiver information are available via the APC section.

Submission Instructions

Npj Genomic Medicine accepts the following article types. Click on an article type to view submission instructions.

Article

Cover Letter A cover letter must be included with the submission. The cover letter should include the affiliation and contact information for the corresponding author.
Abstract An abstract is required for Articles. The abstract must be no more than 150 words. The abstract must be unstructured with no subheadings.
Manuscript The manuscript must be in English and include title page, abstract, introduction without subheadings, results with subheadings, discussion without subheadings, and methods with subheadings, with all methods provided in the main manuscript file. The manuscript must include a Data availability section, a Code availability section where applicable, an Author contributions statement using each author’s initials, a Competing Interests statement for each author, and study funding in the Acknowledgments section rather than a separate Funding statement.
References References are limited to 60, although this limit is not strictly enforced. References must follow standard Nature referencing style. References must be numbered sequentially in order of appearance, with one publication per reference number, and list all authors unless there are more than five, in which case the first author should be followed by 'et al.'.
Figures & Tables Figures must be supplied with the submission and, at initial submission, should be incorporated into the main article file, while tables must be submitted at the end of the text document. Figure legends must be limited to 350 words per figure, and multi-panel figures must be presented on a single page with panels labeled a), b), c).
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Review

Cover Letter A cover letter must be included with the submission. The cover letter should include the affiliation and contact information for the corresponding author.
Abstract An abstract is required for Reviews. The abstract must be no more than 70 words. The abstract must be unstructured with no subheadings.
Manuscript The main text is typically 3,000–4,000 words in length. The manuscript may use subheadings, and the title page must include the full author list, author affiliations with institution, city, and country, and the corresponding author email address. The manuscript must include an Author contributions statement identifying each author by initials, a Competing Interests statement for each author, and documentation of any Large Language Model use in the Methods section or another suitable section if no Methods section is available.
References References are limited to 60, although this limit is not strictly enforced. References must use standard Nature referencing style. References must be numbered sequentially in order of appearance, include all authors unless there are more than five in which case the first author is followed by 'et al.', and only one publication may be assigned to each reference number.
Figures & Tables At initial submission, figures should be incorporated into the main article file if possible, but for final publication each complete figure must be uploaded separately, while tables must be placed at the end of the text document. Each figure legend must be limited to 350 words, and any multi-panel figure must appear on a single page with panels labeled a), b), c).
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Primary Research Manuscripts

Cover Letter Cover letter should be provided with the corresponding author's affiliation and contact information. Cover letter should include the corresponding author's affiliation and contact information and should not repeat information already present in the abstract and introduction.
Abstract Abstract requirements are not specified.
Manuscript Methods must be included in the main manuscript, subdivided by short bold headings, and supplementary Methods are not permitted. Manuscript must include an Author Contribution Statement using author initials, a competing interests statement, a Data Availability section after Methods and before References, and documentation of any Large Language Model use in the Methods or another suitable section if no Methods section is available.
References References must use standard Nature referencing style. References must be numbered sequentially as they appear, include only one publication per reference number, and list all authors unless there are more than five authors, in which case the first author should be followed by 'et al.'.
Figures & Tables At initial submission, figures should be incorporated into the main article file and tables must be submitted at the end of the text document, while for final publication each complete figure must be uploaded as a separate file. Figure legends must be included in the main manuscript after the references, multi-part figures must be arranged as a single file, and each legend must begin with a brief title followed by panel descriptions.
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Research Articles

Cover Letter Cover letter should be provided with the submission. Cover letter should include the affiliation and contact information for the corresponding author.
Abstract Abstract requirements are not specified.
Manuscript Methods must be included in the main manuscript, and research articles must include relevant details about several elements of experimental and analytical design. Manuscript must include an Author Contribution Statement using author initials, a competing interests statement, a data availability statement, and disclosure of any Large Language Model use in the Methods section or another suitable section if no Methods section is available.
References References must use standard Nature referencing style. References must be numbered sequentially as they appear, include only one publication per reference number, and list all authors unless there are more than five, in which case the first author should be followed by 'et al.'.
Figures & Tables At initial submission, figures should be incorporated into the main article file and tables must be submitted at the end of the text document, while final publication requires each figure to be uploaded as a separate file. Multi-panel figures must be prepared as a single file and figure legends must be included in the main manuscript file after the references.
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Case Report

Cover Letter A cover letter is required with the submission. Cover letter should include the corresponding author's affiliation and contact information.
Abstract An abstract is required for Case Reports. Abstract must be no more than 150 words. Abstract must be unstructured with no subheadings.
Manuscript Manuscript must include title page, abstract, Introduction without subheadings, Results with subheadings, Discussion without subheadings and without limitations or conclusions sections, Methods with subheadings, Data availability, Code availability where applicable, Acknowledgments, Author contributions, and Competing Interests. Title must be no more than 15 words and free of punctuation, idioms, and puns, methods must be reported in the main manuscript rather than Supplementary Information, funding must be declared in the Acknowledgments instead of a separate Funding statement, Author contributions must name all authors by initials, competing interests must be declared for each author, and use of a Large Language Model must be documented in the Methods or another suitable section if no Methods section is available.
References Case Reports should include around 50 references as a guide. References must use standard Nature referencing style. References must be numbered sequentially in order of appearance and list all authors unless there are more than five, in which case the first author should be followed by 'et al.'.
Figures & Tables Figures must be supplied with the submission and incorporated into the main article file at initial submission, while tables must be placed at the end of the text document. Figure legends must be limited to 350 words per figure, multi-panel figures must be presented on a single page with panels labeled a), b), c), and final publication figures must be uploaded as separate files with each complete figure as a single file.
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Recent Publications

Artificial intelligence in genomic medicine: dispelling three myths

Benjamin D. Solomon

10.1038/s41525-026-00575-y
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Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism

Courtney Matheny-Rabun, Lynda Holloway, Ken Corning, Raymond Louie, PoNien Lu, Thomas Smol, Simon Boussion, Emily Woods, Diana Johnson, Catherine Williams, Richard Steet, Michael Friez, Gavin Arno, Roger Stevenson, Heather Flanagan-Steet

10.1038/s41525-026-00573-0
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Immuno-molecular features associated with exceptional recurrence–free survivorship from Ovarian Cancer in the pre-PARP era

Félix Blanc–Durand, Elisa Yaniz Galende, Gwénaël Ferron, Marie-Christine Kaminsky, Elsa Kalbacher, Sophie Abadie-Lacourtoisie, Florence Joly, Jerome Meunier, Olivier Tredan, Coriolan Lebreton, Jerome Alexandre, Alain Zannetti, Christophe Louvet, Cyriak Blonz, Nadine Dohollou, Dominique Berton, Christophe Desauw, Elisabeth Carola, Michel Fabbro, Philippe Follana, Eric Pujade-Lauraine, Louis Mourani, Audrey Le Formal, Hortense Gaultier De Saint Basile, Catherine Genestie, Etienne Rouleau, Alexandra Leary

10.1038/s41525-026-00570-3
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Low-penetrance TP53 variants are mainly hypomorphic: an underestimated issue with high clinical significance

Lea Rodriguez, Bernard Leroy, Franck Toledo, Julianne Susanne Funk, Thorsten Stiewe, Panagiotis Baliakas, François Delhommeau, Thierry Soussi

10.1038/s41525-026-00568-x
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Clinical validation of a high-performance somatic exome sequencing assay: from target-enrichment strategy to variant calling

Junko Tsuji, Micah Rickles-Young, Justin Abreu, Alyssa Friedman, Caroline Petersen, J. Bryan, Konrad Scheffler, Taylor O’Connell, Theo Heyns, Edyta Malolepsza, Mark Fleharty, Katie Larkin, Kenneth J. Livak, Shuqiang Li, David A. Reardon, Catherine J. Wu, Patrick A. Ott, Fanny Dao, Heidi Rehm, Max Jan, Chip Stewart, Gad Getz, Varun Jain, Severine Catreux, Carrie Cibulskis, Niall Lennon

10.1038/s41525-026-00569-w
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Frequently asked questions

How long does it take to publish?

Content is published continually online to keep publication times to a minimum.

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Is a cover letter required?

A cover letter should accompany all submissions.

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What are the publication costs?

Article processing charge (APC) applies; current APCs and waiver information are available via the APC section.

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Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Cancer Genomics and Diagnostics Genetics and Neurodevelopmental Disorders Genetic factors in colorectal cancer Genetic Associations and Epidemiology RNA modifications and cancer BRCA gene mutations in cancer Epigenetics and DNA Methylation Prenatal Screening and Diagnostics Congenital heart defects research CRISPR and Genetic Engineering Cancer-related molecular mechanisms research Mitochondrial Function and Pathology RNA Research and Splicing Autism Spectrum Disorder Research Pharmacogenetics and Drug Metabolism RNA and protein synthesis mechanisms Retinal Development and Disorders Genomics and Chromatin Dynamics Ethics in Clinical Research Cystic Fibrosis Research Advances Metabolism and Genetic Disorders Genetic and Kidney Cyst Diseases Genetic Syndromes and Imprinting

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