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Generalisation of Genomic Findings and Applications of Polygenic Risk Scores

Guest Editors:
Manuel Corpas: University of Westminster, UK
Segun Fatumo: London School of Hygiene and Tropical Medicine, UK


BMC Medical Genomics called for submissions to our Collection on Generalisation of Genomic Findings and Applications of Polygenic Risk Scores. A multitude of genetic markers have been produced by large genomic datasets and unprecedented computational methods. Polygenic Risk Scores (PRS) encompass many markers to ascertain an individual's combined score for a particular trait. Numerous studies demonstrate that PRS could be a promising tool to estimate genetic risk for a range of common diseases of public health significance.

Meet the Guest Editors

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Manuel Corpas: University of Westminster, UK

Dr Manuel Corpas is a lecturer in Genomics at the University of Westminster, London, and serves as Scientific Director of Cambridge Precision Medicine, a company associated with the Cambridge University business accelerator (ideaSpace). Manuel is an expert in providing clinical genomics interpretation services to healthcare institutions. He is also a visiting tutor/lecturer at the University of Cambridge and director of the expert course in clinical genetics and personalized medicine at the International University of La Rioja. 

Segun Fatumo: London School of Hygiene & Tropical Medicine, UK

Dr. Segun Fatumo is an Associate Professor of Genetic Epidemiology and Bioinformatics at the MRC/UVR Uganda and London School of Hygiene and Tropical Medicine (LSHTM) in the UK, where he leads The African Computational Genomics (TACG) Research group. Dr Fatumo’s research broadly focuses on the genetic impact of non-communicable diseases in Africa, with particular interest in assessing the impact of genetic variation on kidney function, diabetes, lipid metabolism and a range of cardiovascular diseases. He co-leads major genomics programmes in Africa including the Uganda Genome Resource, Malawi Genome Resource and the Nigerian 100K Genome Project.

About the collection

BMC Medical Genomics is calling for submissions to our Collection on Generalisation of Genomic Findings and Applications of Polygenic Risk Scores. 

 A multitude of genetic markers have been produced by large genomic datasets and unprecedented computational methods. Polygenic Risk Scores (PRS) encompass many markers to ascertain an individual's combined score for a particular trait. Numerous studies demonstrate that PRS could be a promising tool to estimate genetic risk for a range of common diseases of public health significance. Many PRS currently available are created to elucidate the link between individual disease risks and clinical data. However, there are many challenges on the way to an efficient clinical implementation of PRS:

  • Ancestry related risks. 
  • Transferability of existing PRS to underrepresented populations.
  • Pathways involved.
  • Translation of PRS into actionable benefits for individuals.
  • Diverse study designs and analysis methods of the original studies.

Image credit: © vegefox.com / stock.adobe.com

  1. Despite the advancements in heart failure(HF) research, the early diagnosis of HF continues to be a challenging issue in clinical practice. This study aims to investigate the genes related to myocardial fibros...

    Authors: Yonghua Yuan, Yiwei Niu, Jiajun Ye, Yuejuan Xu, Xuehua He and Sun Chen
    Citation: BMC Medical Genomics 2024 17:52
    Content type: Research Published on:

  2. Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss.

    Authors: Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang and Yong-Yi Yuan
    Citation: BMC Medical Genomics 2024 17:32
    Content type: Research Published on:

  4. Dilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic background, with variants in over 250 genes reported in association with DCM. ...

    Authors: Serwa Ghasemi, Mohammad Mahdavi, Majid Maleki, Iman Salahshourifar and Samira Kalayinia
    Citation: BMC Medical Genomics 2023 16:334
    Content type: Research Published on:

  5. Elevated triglyceride (TG) levels are a heritable and modifiable risk factor for cardiovascular disease and have well-established associations with common genetic variation captured in a polygenic risk score (...

    Authors: Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen and Anne S. Bassett
    Citation: BMC Medical Genomics 2023 16:281
    Content type: Research Published on:

    The Correction to this article has been published in BMC Medical Genomics 2023 16:302

  6. The role of the basal metabolic rate (BMR) in osteoarthritis (OA) remains unclear, as previous retrospective studies have produced inconsistent results. Therefore, we performed a Mendelian randomization (MR) s...

    Authors: Jingyu Zhou, Peng Wei, Feng Yi, Shilang Xiong, Min Liu, Hanrui Xi, Min Ouyang, Yayun Liu, Jingtang Li and Long Xiong
    Citation: BMC Medical Genomics 2023 16:258
    Content type: Research Published on:

  8. We aimed to assess the performance of European-derived polygenic risk scores (PRSs) for common metabolic diseases such as coronary artery disease (CAD), obesity, and type 2 diabetes (T2D) in the South Asian (S...

    Authors: Emadeldin Hassanin, Carlo Maj, Hannah Klinkhammer, Peter Krawitz, Patrick May and Dheeraj Reddy Bobbili
    Citation: BMC Medical Genomics 2023 16:164
    Content type: Research Published on:

Submission Guidelines

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This Collection welcomes submission of Research Articles. Before submitting your manuscript, please ensure you have read our submission guidelines. Articles for this Collection should be submitted via our submission system, SNAPP. During the submission process you will be asked whether you are submitting to a Collection, please select "Generalisation of Genomic Findings and Applications of Polygenic Risk Scores" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Guest Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.