2024
DOI: 10.1590/1678-4685-gmb-2023-0318
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Discovery of novel genetic syndromes in Latin America: Opportunities and challenges

Víctor Faundes,
Gabriela M. Repetto,
Leonardo E. Valdivia

Abstract: Latin America (LatAm) has a rich and historically significant role in delineating both novel and well-documented genetic disorders. However, the ongoing advancements in the field of human genetics pose challenges to the relatively slow adaption of LatAm in the field. Here, we describe past and present contributions of LatAm to the discovery of novel genetic disorders, often referred as novel gene-disease associations (NGDA). We also describe the current methodologies for discovery of NGDA, taking into account … Show more

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