Joshua M. Schmidt

The paper uses AI-derived retinal thickness phenotypes from 2D images to identify novel genetic loci for neurodegenerative diseases.

The paper simulates seasonally fluctuating selection in Drosophila populations and shows it reduces genome-wide effective population size by ~50%.

The paper identifies two non-coding structural variants associated with Axenfeld-Rieger Syndrome, showing how enhancer disruption can cause disease without affecting the PITX2 gene itself.

This study performs genome-wide association meta-analyses on optic nerve structure biomarkers, identifying novel loci and potential drug targets independent of intraocular pressure.

This paper develops a polygenic risk score for glaucoma with improved performance across major ancestries, enabling earlier detection and targeted treatment of high-risk individuals.

This study identifies local genetic adaptation to habitat in wild chimpanzees, particularly to pathogens like malaria, using newly generated exomes.

The paper shows that admixture in modern European genomes has masked over 50 historic hard sweeps, suggesting underappreciation of historical selection in human evolution.

The paper links insecticide resistance in Drosophila melanogaster to structural variants and selective sweep loci using genome-wide association studies.

The paper identifies a genetic variant associated with cold adaptation in humans, showing a latitudinal cline and linking it to migraine prevalence.

The paper introduces NCD2, a statistic to detect long-term balancing selection in human genomes, finding it affects 0.6% of genomic windows and 0.8% of positions, with many novel targets.