Assigning function to SNPs: Considerations when interpreting genetic variation.
Semin Cell Dev Biol
; 121: 135-142, 2022 01.
Article
en En
| MEDLINE
| ID: mdl-34446357
ABSTRACT
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.
Palabras clave
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