Protocol for detecting rare and common genetic associations in whole-exome sequencing studies using MAGICpipeline.
STAR Protoc
; 5(1): 102806, 2024 Mar 15.
Article
em En
| MEDLINE
| ID: mdl-38175747
ABSTRACT
Whole-exome sequencing (WES) is a major approach to uncovering gene-disease associations and pinpointing effector genes. Here, we present a protocol for estimating genetic associations of rare and common variants in large-scale case-control WES studies using MAGICpipeline, an open-access analysis pipeline. We describe steps for assessing gene-based rare-variant association analyses by incorporating multiple variant pathogenic annotations and statistical techniques. We then detail procedures for identifying disease-related modules and hub genes using weighted correlation network analysis, a systems biology approach. For complete details on the use and execution of this protocol, please refer to Su et al. (2023).1.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Biologia de Sistemas
/
Exoma
Tipo de estudo:
Risk_factors_studies
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article