Technological advancements in functional interpretation of genome‐wide association studies ( <scp>GWAS</scp> ) findings: bridging the gap to clinical translation
Rédouane Aherrahrou, Minna U. Kaikkonen
Abstract
Genome-wide association studies (GWAS) significantly advanced our understanding of the genetic underpinnings of diseases. However, challenges persist, particularly in interpreting non-coding variants in linkage disequilibrium that affect genes in disease-relevant cells. Addressing key obstacles-identifying causal variants, uncovering target genes, and understanding their network impact-is crucial. This graphical review navigates advanced techniques to fully leverage GWAS for future therapeutic breakthroughs.
Topics & Concepts
Genome-wide association studyGenetic associationLinkage disequilibriumComputational biologyBridging (networking)BiologyLeverage (statistics)GeneGeneticsData scienceComputer scienceAlleleSingle-nucleotide polymorphismMachine learningHaplotypeGenotypeComputer networkGenetic Associations and EpidemiologyGene expression and cancer classificationEpigenetics and DNA Methylation