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Discovery of novel genetic syndromes in Latin America: Opportunities and challenges

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dc.contributor.authorFaundes, Víctor
dc.contributor.authorRepetto, Gabriela
dc.contributor.authorValdivia, Leonardo
dc.date.accessioned2025-01-13T19:21:21Z
dc.date.available2025-01-13T19:21:21Z
dc.date.issued2024
dc.description.abstractLatin 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 the latest developments in genomics. We provide an overview of opportunities and challenges for NGDA research in LatAm considering the steps currently performed to identify and validate such associations. Given the multiple and diverse needs of populations and countries in LatAm, it is imperative to foster collaborations amongst patients, indigenous people, clinicians and scientists. Such collaborative effort is essential for sustaining and enhancing the LatAm´s contributions to the field of NGDA.
dc.description.versionVersión Aceptada
dc.identifier.citationFaundes V, Repetto GM, Valdivia LE. Discovery of novel genetic syndromes in Latin America: Opportunities and challenges. Genet Mol Biol. 2024 Mar 11;47Suppl 1(Suppl 1):e20230318. doi: 10.1590/1678-4685-GMB-2023-0318
dc.identifier.doihttps://doi.org/10.1590/1678-4685-GMB-2023-0318
dc.identifier.urihttps://hdl.handle.net/11447/9636
dc.language.isoen
dc.subjectBioinformatics
dc.subjectGene discovery
dc.subjectGenomics
dc.subjectModel organism
dc.titleDiscovery of novel genetic syndromes in Latin America: Opportunities and challenges
dc.typeArticle
dcterms.accessRightsAcceso Abierto
dcterms.sourceGenetics and molecular biology
dspace.entity.typePublication
relation.isAuthorOfPublication98c75303-d87e-4c17-9d27-d9d710229223
relation.isAuthorOfPublication.latestForDiscovery98c75303-d87e-4c17-9d27-d9d710229223

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