From genetic associations to genes: methods, applications, and challenges.
Trends Genet
; 40(8): 642-667, 2024 Aug.
Article
em En
| MEDLINE
| ID: mdl-38734482
ABSTRACT
Genome-wide association studies (GWASs) have identified numerous genetic loci associated with human traits and diseases. However, pinpointing the causal genes remains a challenge, which impedes the translation of GWAS findings into biological insights and medical applications. In this review, we provide an in-depth overview of the methods and technologies used for prioritizing genes from GWAS loci, including gene-based association tests, integrative analysis of GWAS and molecular quantitative trait loci (xQTL) data, linking GWAS variants to target genes through enhancer-gene connection maps, and network-based prioritization. We also outline strategies for generating context-dependent xQTL data and their applications in gene prioritization. We further highlight the potential of gene prioritization in drug repurposing. Lastly, we discuss future challenges and opportunities in this field.
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Base de dados:
MEDLINE
Assunto principal:
Locos de Características Quantitativas
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Estudo de Associação Genômica Ampla
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article