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Fig. 3 | Genome Medicine

Fig. 3

From: Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation

Fig. 3

Genome editing strategies for interrogation of GWAS loci. Approaches used to investigate the functions of causal variants included introduction of indels nearby causal variants (to disrupt the core sequence of a putative transcription factor binding motif), deletion of the genomic region surrounding causal variants, CRISPRi/a (to repress or enhance the activity of local CREs), and allele substitution to change causal variants from one allele to the other (to precisely mimic the genotype). Multiplex CRISPR is used to target multiple causal variants where they can function jointly or synergistically. CRISPR/Cas screening can enable high-throughput interrogation of causal variants or target genes. Target gene knockout is typically achieved by introducing frameshifts into the coding sequence

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