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dc.contributor.author
Kauffman, Marcelo Andres  
dc.contributor.author
Salinas Calderon, Valeria Macarena  
dc.date.available
2023-11-30T14:52:14Z  
dc.date.issued
2023-01  
dc.identifier.citation
Kauffman, Marcelo Andres; Salinas Calderon, Valeria Macarena; The emergence of genotypic divergence and future precision medicine applications; Elsevier; Handbook of Clinical Neurology; 192; 1-2023; 87-99  
dc.identifier.issn
0072-9752  
dc.identifier.uri
http://hdl.handle.net/11336/218907  
dc.description.abstract
Genotypic divergence is a term adapted from population genetics and intimately linked to evolution. We use divergence here to emphasize the differences that set individuals apart in any cohort. The history of genetics is filled with descriptions of genotypic differences, but causal inference of interindividual biological variation has been scarce. We suggest that the practice of precision medicine requires a divergent approach, an approach dependent on the causal interpretation of previous convergent (and preliminary) knowledge in the field. This knowledge has relied on convergent descriptive syndromology (lumping), which has overemphasized a reductionistic gene determinism on the quest of seeking associations without causal understanding. Regulatory variants with small effect and somatic mutations are some of the modifying factors that lead to incomplete penetrance and intrafamilial variable expressivity often observed in apparently monogenic clinical disorders. A truly divergent approach to precision medicine requires splitting, that is, the consideration of different layers of genetic phenomena that interact causally in a nonlinear fashion. This chapter reviews convergences and divergences in genetics and genomics, aiming to discuss what can be causally understood to approximate the as-yet utopian lands of Precision Medicine for patients with neurodegenerative disorders.  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Elsevier  
dc.rights
info:eu-repo/semantics/restrictedAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/  
dc.subject
DIGENIC INHERITANCE  
dc.subject
GENOTYPIC DIVERGENCE  
dc.subject
GWAS  
dc.subject
PENETRANCE MODIFIERS  
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PRECISION MEDICINE  
dc.subject
SOMATIC MOSAICISM  
dc.subject.classification
Otras Medicina Clínica  
dc.subject.classification
Medicina Clínica  
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CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
The emergence of genotypic divergence and future precision medicine applications  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2023-11-29T13:19:04Z  
dc.identifier.eissn
2212-4152  
dc.journal.volume
192  
dc.journal.pagination
87-99  
dc.journal.pais
Países Bajos  
dc.journal.ciudad
Amsterdam  
dc.description.fil
Fil: Kauffman, Marcelo Andres. Universidad Austral; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina  
dc.description.fil
Fil: Salinas Calderon, Valeria Macarena. Universidad Austral. Facultad de Ciencias Biomédicas. Instituto de Investigaciones en Medicina Traslacional. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Instituto de Investigaciones en Medicina Traslacional; Argentina. Universidad Austral; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; Argentina  
dc.journal.title
Handbook of Clinical Neurology  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1016/B978-0-323-85538-9.00013-4  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/abs/pii/B9780323855389000134