Technological advancements in functional interpretation of genome-wide association studies (GWAS) findings: bridging the gap to clinical translation.
Redouane AherrahrouMinna U KaikkonenPublished in: FEBS letters (2024)
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.
Keyphrases
- genome wide association
- genome wide
- copy number
- dna methylation
- induced apoptosis
- case control
- cell cycle arrest
- bioinformatics analysis
- genome wide identification
- genome wide association study
- oxidative stress
- endoplasmic reticulum stress
- gene expression
- cell death
- genome wide analysis
- signaling pathway
- transcription factor
- network analysis
- high density