NIH R01 · 2025
PROJECT SUMMARY/ABSTRACT As large-scale genome-wide association studies (GWAS) continue to yield now thousands of genomic loci robustly associated with neurodevelopmental and psychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia (SCZ), the major defining challenge of the post-GWAS era is to characterize the concrete biological mechanisms through which this polygenic variation confers disease risk, at scale. To this end, we and others have recently developed methods and resources for systematic integration of GWAS results with population-level functional genomic reference panels -- identifying isoform-regulation during the second trimester of human brain…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.