Amariuta-Bartell Lab

Research focus

NIH R01 · 2025

Identifying ancestry-specific and distal components of disease-associated gene regulation and cellular function

Summary/Abstract Genome-wide association studies (GWAS) have associated hundreds of thousands of genetic variants with human disease and complex traits. 90% of associated variants reside in noncoding sequences that can enhance or suppress gene expression levels. While GWAS does not reveal the target genes of associated variants, extraordinary effort has been dedicated to mapping target genes that carry out the functional effects of noncoding genetic variation. While knowing which genetic variants cause disease is not often sufficient for clinical intervention, identifying disease genes can efficiently accelerate the development of therapeutics. Correlations between genotype and gene…

From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.