Genetic associations with human traits and disease

We have extensive experience in performing genome-wide association studies (GWAS) to identify genetic variants associated with human complex traits and common diseases. We are also experts in interpreting GWAS results through the lens of statistical fine-mapping for likely causal variants, Mendelian randomization for causal effects on other traits or diseases, and functional genomics integration for regulatory effects.

GWAS variants can nominate novel therapeutic targets for human diseases, however, 90% of identified variants map to noncoding regions of the genome with unknown functions or target genes.

This is the variant-to-function (V2F) problem.

CRISPR genome editing to solve V2F for GWAS

To help solve V2F, we perform high-throughput, pooled CRISPR screens with single-cell sequencing to more deeply study GWAS loci. We use human cell models and CRISPR-based approaches for perturbing GWAS loci to examine their impact on gene expression, gene regulatory networks, and proteins. In doing so, we can identify target genes and learn about their functions in disease-relevant cell models.