S1 2 Carmina Barberena Jonas скачать в хорошем качестве

S1 2 Carmina Barberena Jonas

We introduce MexVar, an innovative and user-friendly web platform to explore allele frequencies of biomedically relevant Single Nucleotide Polymorphisms (SNPs) in the Mexican population. MexVar integrates genetic and epidemiological data from the Mexico Biobank (MXB), a comprehensive dataset of 6,011 individuals from all 32 Mexican states, including rural and urban areas, providing a nationwide reference of genomic variation. Leveraging curated variants from ClinVar, PharmGKB, OMIM, and GWAS Catalog, we compute state-level allele frequencies, unveiling not only their overall distribution across Mexico but also highlighting local variations and their relevance. To overcome the limitations of the Eurocentric bias in biomedical genomic datasets, MexVar incorporates local ancestry calls from Gnomix along each chromosome considering four ancestral components, so we can parse out and explore biomedical variants according to the specific ancestral background they are segregating in the admixed population. By accounting for the unique contribution from each genetic ancestry, MexVar enables researchers to contextualize and interpret allele frequencies more accurately. By analyzing more than 100,000 biomedically relevant SNPs we found notable differences in variant frequencies based on ancestral backgrounds. We discovered that certain variants show higher frequencies within European ancestry segments but are absent within genomic regions of Native American ancestry, indicating divergence in variant distribution based on ancestry. Recognizing and addressing bias in variant discovery is crucial for advancing genetic research and achieving equitable healthcare outcomes. MexVar features an interactive map of Mexico, enabling users to explore allele frequencies associated with specific ancestral populations. This functionality provides researchers with a deeper understanding of genetic diversity at a regional level and facilitates the identification of population-specific variants, thus improving the precision of genetic studies in Mexico. This platform serves as a valuable resource for analyzing and visualizing genetic data from the largest nationwide biobank in Mexico, and empowers researchers to investigate SNPs of biomedical relevance within the MXB, fostering a nuanced understanding of the genetic factors influencing a broad range of disorders. MexVar contributes to closing the gap of diversity and equity in genomics research by providing a community data-sharing platform that promotes access, training, and knowledge exchange in human genetics.