Human genetic applications in drug discovery
| Detection of genomic regions associated with the phenotype of interest |
| Evaluation of strength of association of the same region with endophenotypes, related traits, or other clinical outcomes |
| Fine-mapping of the region to focus on the likely causal variant |
| Assessment of coding variation or eQTL in relevant tissues to identify the causal transcript |
| Study of protein-truncating variants to determine direction of effect |
| Integration of other genomic data to explore potential off-target effects |
| Use of Mendelian randomization to establish causality |
| Detection of genomic regions associated with the phenotype of interest |
| Evaluation of strength of association of the same region with endophenotypes, related traits, or other clinical outcomes |
| Fine-mapping of the region to focus on the likely causal variant |
| Assessment of coding variation or eQTL in relevant tissues to identify the causal transcript |
| Study of protein-truncating variants to determine direction of effect |
| Integration of other genomic data to explore potential off-target effects |
| Use of Mendelian randomization to establish causality |