Bioinformatics applied to the analysis of genetic variants in Latin American populations: A systematic review of the literature

Introduction: Latin American populations possess vast genomic diversity resulting from ancestral admixture; however, they remain markedly underrepresented in global genomic databases. This gap limits the effectiveness of precision medicine and the interpretation of genetic variants within the regional context.

Objective: To analyze the current application of bioinformatics tools in the study of genetic variants in Latin American populations in order to identify challenges and opportunities for the implementation of local clinical genomics.
Methods: A systematic review was conducted following the PRISMA methodology, consulting databases such as Scopus and Web of Science. A total of 61 scientific articles published between 2021 and 2026 were selected and analyzed.
Results: A critical need was identified to develop customized bioinformatics workflows and to strengthen regional biobanks. These tools are essential for improving mutation filtering and reducing the incidence of variants of uncertain significance (VUS) through the use of local ancestry data.

Conclusions: The integration of next-generation sequencing (NGS) with local genomic contexts is fundamental to mitigating genomic inequality. It is concluded that the development of proprietary bioinformatics infrastructure is key to ensuring equitable and sovereign precision medicine in the region.

Keywords: Bioinformatics, Genetic Variation, DNA Sequence Analysis, Precision Medicine, Key Population Groups.