Disease coverage of human genome-wide association studies and pharmaceutical research and development.

ABSTRACT:

Background

Despite the growing interest in the use of human genomic data for drug target identification and validation, the extent to which the spectrum of human disease has been addressed by genome-wide association studies (GWAS), or by drug development, and the degree to which these efforts overlap remain unclear.

Methods

In this study we harmonize and integrate different data sources to create a sample space of all the human drug targets and diseases and identify points of convergence or divergence of GWAS and drug development efforts.

Results

We show that only 612 of 11,158 diseases listed in Human Disease Ontology have an approved drug treatment in at least one region of the world. Of the 1414 diseases that are the subject of preclinical or clinical phase drug de

SUBMITTER: Gordillo-Maranon M 

PROVIDER: S-EPMC11461613 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature