Discovery of novel genetic syndromes in Latin America: Opportunities and challenges.
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ABSTRACT:
SUBMITTER: Faundes V
PROVIDER: S-EPMC10964411 | biostudies-literature | 2024
REPOSITORIES: biostudies-literature
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Discovery of novel genetic syndromes in Latin America: Opportunities and challenges.
Faundes Víctor V Repetto Gabriela M GM Valdivia Leonardo E LE
Genetics and molecular biology 20240311 Suppl 1
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, takin ...[more]
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