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Advancing human genetics in underrepresented populations

Advancing human genetics in underrepresented populationsThe lack of representation in genomics and multi-omics studies has hindered advances in the field of human genetics, with the vast majority of research conducted, developed and validated in individuals of European descent.  While in recent years there has been an increased interest in cataloging genetic variation from diverse ancestries, our understanding of disease variation, risk and mechanisms across diverse populations is still severely lacking. Consideration of diversity in basic and clinical research improves our knowledge of genomic variation in all human populations,  creating a greater potential for discovery and advancement in precision medicine, thereby reducing disparities in access to equitable and quality health-care. To capture significant advances in this field, Genome Medicine is pleased to announce a call for papers for this new special issue on ‘Advancing human genetics in underrepresented populations’, guest edited by Dr Segun Fatumo, from the London School of Hygiene & Tropical Medicine and Dr. Krishna Aragam, from Massachusetts General Hospital and Broad Institute of MIT and Harvard University.

We encourage work that fosters community engagement in research as well as academic-industry partnerships and collaboration among scientists from multi-disciplinary fields.

We are now inviting the submission of Research, Method, Software, Database and Guideline manuscripts of outstanding interest covering the breadth of the multi-disciplinary work and advances made in this area, covering all aspects of: 

 ● Genomics, transcriptomics, proteomics, metabolomics, single-cell & spatial omics in diverse populations
 ● Multimodal analyses in multi-ancestry studies
 ● Clinical interpretation of disease variation
 ● Population screening
 ● Clinical trials
 ● Risk prediction and modelling
 ● Consortia efforts, large and/or novel biobanks and cohort studies

Submission deadline: 30 June 2023

To submit your manuscript, please use the Genome Medicine online submission system and indicate in your covering letter that you would like the article to be considered for the Advancing human genetics in underrepresented populations special issue. Please review the journal's submission guidelines before submitting to this Collection. If you would like to enquire about the suitability of a manuscript for consideration, please email

This collection of articles has not been sponsored and articles will undergo the journal’s standard peer-review process. The Guest Editors declare that they have no competing interests. The Guest Editors serve an advisory role to guide the scope of the special issue and commissioned content; final editorial decisions lie with the Editor.