NIH R01 · 2025
Systematic Functional Interpretation of Regulatory Variants in Neuropsychiatric Disorders
ABSTRACT Despite the mounting risk loci in genome-wide association studies (GWAS) of neuropsychiatric disorders, identifying the causal variants/genes has been challenging, which hinders the translation of GWAS findings into novel disease biology. A major hurdle is that most risk variants lie in noncoding regions of DNA without easily interpretable function. Noncoding regulatory sequences often reside in open chromatin regions (OCRs). With human induced pluripotent stem cell (hiPSC) neurons as a model in our initial productive R01 period, we have identified abundant regulatory variants in OCRs that affect chromatin accessibility, exhibiting allele- specific open chromatin (ASoC). ASoC SNPs…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.