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Assigning function to SNPs: Considerations when interpreting genetic variation.
Fadason, Tayaza; Farrow, Sophie; Gokuladhas, Sreemol; Golovina, Evgeniia; Nyaga, Denis; O'Sullivan, Justin M; Schierding, William.
Afiliación
  • Fadason T; Liggins Institute, The University of Auckland, Auckland, New Zealand; The Maurice Wilkins Centre, The University of Auckland, Auckland, New Zealand.
  • Farrow S; Liggins Institute, The University of Auckland, Auckland, New Zealand; The Maurice Wilkins Centre, The University of Auckland, Auckland, New Zealand.
  • Gokuladhas S; Liggins Institute, The University of Auckland, Auckland, New Zealand.
  • Golovina E; Liggins Institute, The University of Auckland, Auckland, New Zealand.
  • Nyaga D; Liggins Institute, The University of Auckland, Auckland, New Zealand.
  • O'Sullivan JM; Liggins Institute, The University of Auckland, Auckland, New Zealand; The Maurice Wilkins Centre, The University of Auckland, Auckland, New Zealand; Garvan Institute of Medical Research, Sydney, New South Wales, Australia; MRC Lifecourse Epidemiology Unit, University of Southampton, United Kingdom.
  • Schierding W; Liggins Institute, The University of Auckland, Auckland, New Zealand; The Maurice Wilkins Centre, The University of Auckland, Auckland, New Zealand.
Semin Cell Dev Biol ; 121: 135-142, 2022 01.
Article en En | MEDLINE | ID: mdl-34446357
Assigning function to single nucleotide polymorphisms (SNPs) to understand the mechanisms that link genetic and phenotypic variation and disease is an area of intensive research that is necessary to contribute to the continuing development of precision medicine. However, despite the apparent simplicity that is captured in the name SNP - 'single nucleotide' changes are not easy to functionally characterize. This complexity arises from multiple features of the genome including the fact that function is development and environment specific. As such, we are often fooled by our terminology and underlying assumptions that there is a single function for a SNP. Here we discuss some of what is known about SNPs, their functions and how we can go about characterizing them.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Polimorfismo de Nucleótido Simple / Medicina de Precisión / Aprendizaje Automático Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Semin Cell Dev Biol Asunto de la revista: EMBRIOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Nueva Zelanda Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Variación Genética / Polimorfismo de Nucleótido Simple / Medicina de Precisión / Aprendizaje Automático Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Semin Cell Dev Biol Asunto de la revista: EMBRIOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Nueva Zelanda Pais de publicación: Reino Unido