Publications by authors named "E Tarazona-Santos"
Article Synopsis
- Latin Americans are often overlooked in genetic studies, which can widen gaps in personalized medicine due to the challenges of accessing genetic data and consent processes.
- The Genetics of Latin American Diversity (GLAD) Project compiles genetic information from over 53,000 individuals across various regions to explore diverse ancestry and gene flow in the Americas.
- GLAD includes a tool called GLAD-match to align external genetic samples with its database while protecting individual privacy, thus supporting more inclusive genomic research and enhancing personalized medicine for Latin Americans.
Multisystem inflammatory syndrome in children (MIS-C) is a rare, potentially fatal complication of SARS-CoV-2 infection. Genetic defects in inflammation-related pathways have been linked to MIS-C, but additional research is needed, especially in diverse ethnic groups. The present study aimed to identify genetic variants underlying MIS-C in Brazilian patients.
View Article and Find Full Text PDFMore globally diverse perspectives are needed in genomic studies and precision medicine practices on non-Europeans. Here, we illustrate this by discussing the distribution of clinically actionable genetic variants involved in drug response in Andean highlanders and Amazonians, considering their environment, history, genetic structure, and historical biases in the perception of biological diversity of Native Americans.
View Article and Find Full Text PDFIn Peru, 29 292 people were diagnosed with tuberculosis in 2022. Although tuberculosis treatments are effective, 3.4%-13% are associated with significant adverse drug reactions, with drug-induced liver injury (DILI) considered the most predominant.
View Article and Find Full Text PDFArticle Synopsis
- Genome-wide association studies have identified genetic risk factors but often rely on imputation panels that mainly represent European ancestry, affecting quality in underrepresented groups like Latin Americans.
- This study examines how altering the composition of imputation reference panels impacts imputation quality in four different Latin American cohorts, specifically analyzing chromosomes 7 and X.
- Results show that increasing the number of Latin Americans in the reference leads to better imputation quality, while excluding them, as well as adjustments in European and African representation, affects quality differently across populations and chromosomes.