High throughput testing of non-coding genetic variants snpSTARR

In this work we developed a standardized experimental and computational STARRseq framework to identify those disease associated genetic variants that impact enhancer activity. This can accurately identify critical non-coding SNPs and test hundreds to thousands of variants in a single experiment. Our methodology, snpSTARRseq, provides streamlined bioinformatic analysis and is amenable to different genomic regions, diseases and sequencing approaches. Overall, snpSTARRseq functionally characterizes hits from GWAS studies and provides mechanistic understanding of critical genetic variants.