Imputation of rare variants in next-generation association studies.
Hum Hered
; 74(3-4): 196-204, 2012.
Article
en En
| MEDLINE
| ID: mdl-23594497
ABSTRACT
The role of rare variants has become a focus in the search for association with complex traits. Imputation is a powerful and cost-efficient tool to access variants that have not been directly typed, but there are several challenges when imputing rare variants, most notably reference panel selection. Extensions to rare variant association tests to incorporate genotype uncertainty from imputation are discussed, as well as the use of imputed low-frequency and rare variants in the study of population isolates.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Variación Genética
Tipo de estudio:
Risk_factors_studies
Idioma:
En
Revista:
Hum Hered
Año:
2012
Tipo del documento:
Article