Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KL: We kept running into GWAS loci where the whole “one variant, one gene” story felt incomplete. You’d fine-map to a regulatory region sitting between multiple genes, and everyone would argue about which one was “the” causal gene—but what if that was... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? Authors: We came across the study by Valencia et al. that provided the neurodevelopmental disorder (NDD)-associated variants we used in our study. In that paper, it was shown that mutations causing neurodevelopmental disorders were most enriched in the chromatin-remodeling BAF complex,... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? KK: The initial motivation came from discussions with my advisor, Sebastian Zöllner, PhD, on imputing ancient DNA (aDNA) and whether meta-imputation would be the best way to leverage an aDNA reference panel. We are still working on that question, but... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SG: I’ve been very interested in understanding differences in gene regulation across human populations and how genetic ancestry shapes gene expression. However, when I started thinking seriously about studying these questions at the cell-type resolution, I realized that multi-ancestry single-cell datasets... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? AV: There’s a statistical genetic technique called Mendelian randomization, which can very easily identify if there is a causal link between two traits, as long as there are genome-wide association study (GWAS) summary statistics available for both of them.... Read More