Keio University Human Biology-Microbiome-Quantum Research Center (WPI-Bio2Q) will hold a seminar as follows.

This is an event for faculty, students, and staff of Keio University. We sincerely look forward to your participation.

Abstract

Over 90% of disease-associated variants from genome-wide association studies (GWAS) lie in non-coding regions, where defining causal variants, their effector genes, and cellular context remains a central challenge. To address this, we statistically fine-map disease loci and apply SCENT (Single-Cell ENhancer-Target gene mapping), a nonparametric method that links enhancers to target genes from single-cell multiome (RNA+ATAC) data. Applying this framework to our multi-ancestry rheumatoid arthritis GWAS, we found that fine-mapped causal variants are strongly enriched in T-cell-type-specific regulatory elements and nominated effector genes at non-coding loci that could become therapeutic targets. We are further extending SCENT to one of the most advanced embryoid model to reach early developmental cell states that are otherwise inaccessible in humans, building a cis-regulatory atlas relevant to complex developmental disorders.

Together, this integration of statistical genetics, single-cell genomics, and human-specific models provides a powerful framework to decode the functional impact of non-coding disease risk variants.