A Latin American pangenome for mapping structural variation of medical relevance in underrepresented indigenous ancestries

Large-scale genomic studies of non-European cohorts are urgently needed to propel the discovery of medically relevant variants in diverse ancestries that remain underrepresented. Otherwise, population-specific variation will continue to be missed, perpetuating health disparities. To tackle this challenge, the LatinGenomes consortium brings together more than 30 researchers representing ten countries across Latin America to build a pangenome representative of indigenous ancestries across LATAM. This will allow us to discover structural variants relevant for the region and investigate their role in gene expression changes at the cellular level in immune cells and gallbladder tissues. Given the higher risk of gallbladder cancer in Indigenous Chilean individuals of Mapuche ancestry, we will further investigate the association of germline and somatic structural variants with single-cell gene expression, revealing genes of interest, dosage and direction effects and pathways relevant for the physiopathological understanding of this cancer of high disease burden for South America. We will foster international collaboration while promoting local capacity building and training across LATAM. An endeavor of this caliber, rooted in community engagement and led by local experts is unprecedented for Latin America and will be of great value for biomedical research and global health.