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Updated: Apr 7, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The heritable path of human physical performance: from single polymorphisms to the "next generation"
C G M Santos1,2, P M Pimentel-Coelho1,2, B Budowle3,4
1Instituto de Biologia do Exército, Brazillian Army Biologic Institute, Rio de Janeiro, Brazil.
Genetic factors significantly influence human physical performance, complementing environmental factors. Advanced molecular technologies like next-generation sequencing offer new insights into athletic performance genetics.
Area of Science:
- Human genetics
- Sports science
- Molecular biology
Background:
- Human physical performance is a complex trait influenced by both environmental and genetic factors.
- Previous studies, including twin studies, suggest a significant genetic component in physiological traits related to performance.
- Inconsistent results in candidate gene studies highlight challenges in understanding genetic contributions.
Purpose of the Study:
- To critically review the heritable genetic aspects of human physical performance.
- To explore the potential of novel molecular technologies in advancing this field.
- To emphasize the need for well-designed studies to effectively utilize generated data.
Main Methods:
- Review of existing literature on genetic factors in physical performance.
- Discussion of traditional molecular techniques and their limitations.
- Introduction of advanced technologies like next-generation sequencing.
Main Results:
- Genetic polymorphisms have been associated with physical performance, but results are often inconsistent due to study biases.
- Twin studies provide evidence for a genetic basis in physiological traits.
- Novel technologies offer improved capabilities for genomic analysis.
Conclusions:
- Understanding the genetic basis of athletic performance requires addressing biases in cohort selection and variable definition.
- Next-generation sequencing and other advanced molecular tools can enhance our comprehension of the molecular underpinnings of performance.
- Effective utilization of large genomic datasets necessitates rigorous study design.
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