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Updated: Sep 29, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Advances in sports genomics
Ildus I Ahmetov1, Elliott C R Hall2, Ekaterina A Semenova3
1Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool, United Kingdom; Department of Physical Education, Plekhanov Russian University of Economics, Moscow, Russia; Laboratory of Molecular Genetics, Kazan State Medical University, Kazan, Russia; Sports Genetics Laboratory, St Petersburg Research Institute of Physical Culture, St Petersburg, Russia.
Sports genomics identifies genetic markers for athletic performance and injury risk. Research has identified 220 DNA polymorphisms linked to athlete status and 29 for soft-tissue injuries, aiding talent identification and personalized training.
Area of Science:
- Sports genomics
- Human genetics
- Exercise physiology
Background:
- Sports genomics investigates the genetic basis of athletic performance and injury susceptibility.
- Both genetic and environmental factors are crucial in determining athletic phenotypes.
- Advances in genetic research are refining our understanding of these factors.
Purpose of the Study:
- To update the scientific community on genetic markers associated with athlete status and soft-tissue injuries.
- To highlight recent research, including whole genome sequencing and genome-wide association studies.
- To identify promising genetic markers for endurance, power, strength, and injury prevention.
Main Methods:
- Review of recent scientific literature, including whole genome sequencing (WGS) and genome-wide association studies (GWAS).
- Analysis of collaborative projects and meta-analyses.
- Identification and compilation of significant DNA polymorphisms (genetic markers).
Main Results:
- As of late 2020, 220 DNA polymorphisms are associated with athlete status (97 significant in multiple studies).
- These include markers for endurance (35), power (24), and strength (38).
- 29 genetic markers are linked to soft-tissue injuries, with specific promising markers identified for each category.
Conclusions:
- Sports genomics is advancing the identification of genetic markers for athletic performance and injury risk.
- While numerous markers are identified, predicting performance and injury risk accurately requires understanding hundreds or thousands of DNA polymorphisms.
- Continued research is essential for personalized training, talent identification, and injury prevention strategies.
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