Benefits and limitations of genome-wide association studies.

Date publication

août 2019

Journal

Nature reviews. Genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr MEYRE David

Tous les auteurs :
Tam V, Patel N, Turcotte M, Bossé Y, Paré G, Meyre D

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/31068683

Résumé

Genome-wide association studies (GWAS) involve testing genetic variants across the genomes of many individuals to identify genotype-phenotype associations. GWAS have revolutionized the field of complex disease genetics over the past decade, providing numerous compelling associations for human complex traits and diseases. Despite clear successes in identifying novel disease susceptibility genes and biological pathways and in translating these findings into clinical care, GWAS have not been without controversy. Prominent criticisms include concerns that GWAS will eventually implicate the entire genome in disease predisposition and that most association signals reflect variants and genes with no direct biological relevance to disease. In this Review, we comprehensively assess the benefits and limitations of GWAS in human populations and discuss the relevance of performing more GWAS.

Mots clés

Animals, Genetic Association Studies, methods, Genetic Predisposition to Disease, genetics, Genetic Variation, genetics, Genome, genetics, Genome-Wide Association Study, methods, Genotype, Humans, Phenotype

Référence

Nat Rev Genet. 2019 08;20(8):467-484