ASHG News

ASHG, alongside our advocacy partners, continues to help Congress see the impact of human genetics and genomics research, and that robust and sustained funding for the NIH is vital for advancing scientific progress and creating hope. We spoke with a patient participant (who wished to remain anonymous) enrolled in NIH’s Undiagnosed Diseases Network (UDN) to discuss their diagnostic journey under this... Read More

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