Minoli A. Perera

Keywords transcriptome prediction models transcriptome-wide association study functional annotation multi-ancestry peripheral blood mononuclear cells PBMCs RNA-seq omnibus approach Introduction Although large-scale genome-wide association studies (GWASs) have identified numerous genetic variants associated with complex human diseases or traits, the inference from identified genetic variants to candidate genes remains challenging.

At the beginning of 2025, my lab and my science were flying high. We had recently been awarded a R01 grant by the National Institutes of Health to study genetic predictors of cardiovascular drug response in Puerto Ricans. I knew as a scientist that the incoming Trump administration would be problematic. But I never imagined what was coming.

Drugs that target genes supported by strong human genetics evidence have a higher likelihood of success during clinical trials. Hence, it has become increasingly popular to scour the genome to identify new drug targets. Recent advances in sequencing and large-scale genetic studies are driving genome-based discovery of drug targets, with hundreds of thousands to millions of genomes sequenced by pharmaceutical companies, and commercial and academic biobanks for that purpose.