Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications.

Duffy Á., Petrazzini BO., Stein D., Park JK., Forrest IS., Gibson K., Vy HM., Chen R., Márquez-Luna C., Mort M., Verbanck M., Schlessinger A., Itan Y., Cooper DN., Rocheleau G., Jordan DM., Do R.

Studies have shown that drug targets with human genetic support are more likely to succeed in clinical trials. Hence, a tool integrating genetic evidence to prioritize drug target genes is beneficial for drug discovery. We built a genetic priority score (GPS) by integrating eight genetic features with drug indications from the Open Targets and SIDER databases. The top 0.83%, 0.28% and 0.19% of the GPS conferred a 5.3-, 9.9- and 11.0-fold increased effect of having an indication, respectively. In addition, we observed that targets in the top 0.28% of the score were 1.7-, 3.7- and 8.8-fold more likely to advance from phase I to phases II, III and IV, respectively. Complementary to the GPS, we incorporated the direction of genetic effect and drug mechanism into a directional version of the score called the GPS with direction of effect. We applied our method to 19,365 protein-coding genes and 399 drug indications and made all results available through a web portal.

DOI

10.1038/s41588-023-01609-2

Type

Journal article

Publication Date

2024-01-01T00:00:00+00:00

Volume

56

Pages

51 - 59

Total pages

8

Keywords

Humans, Human Genetics, Pharmacogenetics, Drug Discovery

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