Rare-variant collapsing analyses for complex traits: guidelines and applications.
Nat Rev Genet
; 20(12): 747-759, 2019 12.
Article
en En
| MEDLINE
| ID: mdl-31605095
ABSTRACT
The first phase of genome-wide association studies (GWAS) assessed the role of common variation in human disease. Advances optimizing and economizing high-throughput sequencing have enabled a second phase of association studies that assess the contribution of rare variation to complex disease in all protein-coding genes. Unlike the early microarray-based studies, sequencing-based studies catalogue the full range of genetic variation, including the evolutionarily youngest forms. Although the experience with common variants helped establish relevant standards for genome-wide studies, the analysis of rare variation introduces several challenges that require novel analysis approaches.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Análisis de Secuencia por Matrices de Oligonucleótidos
/
Herencia Multifactorial
/
Estudio de Asociación del Genoma Completo
/
Secuenciación de Nucleótidos de Alto Rendimiento
Tipo de estudio:
Guideline
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Nat Rev Genet
Asunto de la revista:
GENETICA
Año:
2019
Tipo del documento:
Article
País de afiliación:
Estados Unidos