Fine-mapping genetic associations.
Hum Mol Genet
; 29(R1): R81-R88, 2020 09 30.
Article
em En
| MEDLINE
| ID: mdl-32744321
ABSTRACT
Whilst thousands of genetic variants have been associated with human traits, identifying the subset of those variants that are causal requires a further 'fine-mapping' step. We review the basic fine-mapping approach, which is computationally fast and requires only summary data, but depends on an assumption of a single causal variant per associated region which is recognized as biologically unrealistic. We discuss different ways that the approach has been built upon to accommodate multiple causal variants in a region and to incorporate additional layers of functional annotation data. We further review methods for simultaneous fine-mapping of multiple datasets, either exploiting different linkage disequilibrium (LD) structures across ancestries or borrowing information between distinct but related traits. Finally, we look to the future and the opportunities that will be offered by increasingly accurate maps of causal variants for a multitude of human traits.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Marcadores Genéticos
/
Doença
/
Mapeamento Cromossômico
/
Predisposição Genética para Doença
/
Polimorfismo de Nucleotídeo Único
/
Locos de Características Quantitativas
/
Estudo de Associação Genômica Ampla
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Revista:
Hum Mol Genet
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Reino Unido