Enhancing genomic research in Brazil with Nextflow-based admixture mapping pipelines

The Brazilian population exhibits significant genetic diversity due to its admixed American Indigenous, African, and European ancestries. This diversity makes it an ideal setting for comprehensive genetic studies. However, about 80% of existing genetic knowledge is derived from studies of European populations, resulting in missed opportunities for pioneering discoveries in non-European genomes that could drive healthcare innovations. Addressing this, the 'Gen-t do Brasil' project aims to map the DNA of more than 200,000 Brazilians by 2027 to understand the impact of genetic factors on health, and to develop innovative methods for disease detection and treatment. Traditional studies often overlook such populations due to the analytical complexities posed by their mixed genomic heritage. We utilize the genetic diversity of the admixed Brazilian population to conduct admixture mapping. This technique is based on the hypothesis that variations in disease rates among different populations are due to differences in the frequency of disease-causing genetic variants. To tackle these challenges, we have developed a series of Nextflow pipelines specifically tailored for admixture mapping. These pipelines are designed to provide robust, scalable, and reproducible analyses of genetic data, thereby enhancing our understanding of Brazilian populations. Additionally, integrating NFTest enhances our workflow management capabilities and ensures the code-safe scalability needed to establish a Brazilian biobank. This initiative sets a new standard for inclusivity and comprehensive research in genomic science, highlighting the importance of building a scalable biobank infrastructure.