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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.

  1. Polygenic prediction studies in continental Africans are scarce. Africa’s genetic and environmental diversity pose a challenge that limits the generalizability of polygenic risk scores (PRS) for body mass inde...

    Authors: Tinashe Chikowore, Kristi Läll, Lisa K. Micklesfield, Zane Lombard, Julia H. Goedecke, Segun Fatumo, Shane A. Norris, Reedik Magi, Michele Ramsay, Paul W. Franks, Guillaume Pare and Andrew P. Morris
    Citation: Genome Medicine 2024 16:74
  2. Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familia...

    Authors: Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii…
    Citation: Genome Medicine 2024 16:46
  3. Prostate cancer is a significant health concern, particularly among African American (AA) men who exhibit higher incidence and mortality compared to European American (EA) men. Understanding the molecular mech...

    Authors: Swathi Ramakrishnan, Eduardo Cortes-Gomez, Sarah R. Athans, Kristopher M. Attwood, Spencer R. Rosario, Se Jin Kim, Donald E. Mager, Emily G. Isenhart, Qiang Hu, Jianmin Wang and Anna Woloszynska
    Citation: Genome Medicine 2024 16:52
  4. The occurrence of metabolic syndrome (MetS) and the gut microbiota composition are known to differ across ethnicities yet how these three factors are interwoven is unknown. Also, it is unknown what the relativ...

    Authors: Manon Balvers, Marcus de Goffau, Natal van Riel, Bert-Jan van den Born, Henrike Galenkamp, Koos Zwinderman, Max Nieuwdorp and Evgeni Levin
    Citation: Genome Medicine 2024 16:41
  5. Chronic kidney disease (CKD) is highly prevalent among Indigenous Australians, especially those in remote regions. The Tiwi population has been isolated from mainland Australia for millennia and exhibits uniqu...

    Authors: Vignesh Arunachalam, Rodney Lea, Wendy Hoy, Simon Lee, Susan Mott, Judith Savige, John D. Mathews, Brendan J. McMorran and Shivashankar H. Nagaraj
    Citation: Genome Medicine 2024 16:29
  6. Arabs represent 5% of the world population and have a high prevalence of common disease, yet remain greatly underrepresented in genome-wide association studies, where only 1 in 600 individuals are Arab. We hig...

    Authors: Romit Bhattacharya, NingNing Chen, Injeong Shim, Hiroyuki Kuwahara, Xin Gao, Fowzan S. Alkuraya and Akl C. Fahed
    Citation: Genome Medicine 2023 15:99
  7. Identification of rare variants involved in complex, polygenic diseases like Crohn’s disease (CD) has accelerated with the introduction of whole exome/genome sequencing association studies. Rare variants can b...

    Authors: Courtney Astore, Shivam Sharma, Sini Nagpal, David J. Cutler, John D. Rioux, Judy H. Cho, Dermot P. B. McGovern, Steven R. Brant, Subra Kugathasan, I. King Jordan and Greg Gibson
    Citation: Genome Medicine 2023 15:97
  8. Biorepositories archive and distribute well-characterized biospecimens for research to support the development of medical diagnostics and therapeutics. Knowledge of biobanking and associated practices is incom...

    Authors: Talishiea Croxton, Emmanuel Jonathan, Kareemah Suleiman, Olasinbo Balogun, Petronilla J. Ozumba, Sharley M. Aloyo, Gideon Nsubuga, Rogers E. Kamulegeya, Lwanga Newton, John Mukisa, Mukthar Kader, Vuyo Damaneite, Sunji Nadoma, Ezenwa James Onyemata, Abbas Abel Anzaku, Emmanuel Nasinghe…
    Citation: Genome Medicine 2023 15:92
  9. Early identification of genetic risk factors for complex diseases can enable timely interventions and prevent serious outcomes, including mortality. While the genetics underlying many Mendelian diseases have b...

    Authors: Segun Fatumo, Dassen Sathan, Chaimae Samtal, Itunuoluwa Isewon, Tsaone Tamuhla, Chisom Soremekun, James Jafali, Sumir Panji, Nicki Tiffin and Yasmina Jaufeerally Fakim
    Citation: Genome Medicine 2023 15:87
  10. Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children ...

    Authors: Mona Abdi, Elbay Aliyev, Brett Trost, Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Rulan Shaath, Geethanjali Devadoss Gandhi, Worrawat Engchuan, Jennifer Howe, Bhooma Thiruvahindrapuram, Melissa Geng, Joe Whitney, Amira Syed, Jyothi Lakshmi, Sura Hussein…
    Citation: Genome Medicine 2023 15:81
  11. Breast cancer patients from the indigenous Arab population present much earlier than patients from Western countries and have traditionally been underrepresented in cancer genomics studies. The contribution of...

    Authors: Mohammed Al-Jumaan, Hoyin Chu, Abdullah Alsulaiman, Sabrina Y. Camp, Seunghun Han, Riaz Gillani, Yousef Al Marzooq, Fatmah Almulhim, Chittibabu Vatte, Areej Al Nemer, Afnan Almuhanna, Eliezer M. Van Allen, Amein Al-Ali and Saud H. AlDubayan
    Citation: Genome Medicine 2023 15:65
  12. Curated databases of genetic variants assist clinicians and researchers in interpreting genetic variation. Yet, these databases contain some misclassified variants. It is unclear whether variant misclassificat...

    Authors: Andrew G. Sharo, Yangyun Zou, Aashish N. Adhikari and Steven E. Brenner
    Citation: Genome Medicine 2023 15:51
  13. The clinical utility of exome sequencing is now well documented. Rapid exome sequencing (RES) is more resource-intensive than regular exome sequencing and is typically employed in specialized clinical settings...

    Authors: Dorota Monies, Ewa Goljan, Mirna Assoum, Muna Albreacan, Faisal Binhumaid, Shazia Subhani, Abdulmlik Boureggah, Mais Hashem, Firdous Abdulwahab, Omar Abuyousef, Mohamad H. Temsah, Fahad Alsohime, James Kelaher, Mohamed Abouelhoda, Brian F. Meyer and Fowzan S. Alkuraya
    Citation: Genome Medicine 2023 15:44
  14. Population screening for genetic risk of adult-onset preventable conditions has been proposed as an attractive public health intervention. Screening unselected individuals can identify many individuals who wil...

    Authors: Nandana D. Rao, Jailanie Kaganovsky, Emily A. Malouf, Sandy Coe, Jennifer Huey, Darwin Tsinajinne, Sajida Hassan, Kristine M. King, Stephanie M. Fullerton, Annie T. Chen and Brian H. Shirts
    Citation: Genome Medicine 2023 15:26