Posted By: HGG Advances HGGA: What motivated you to start working on this project? HC: This project came out of an ongoing collaboration with Wendy K. Chung, MD, PhD. We have been working together on a series of neurodevelopmental disease genes—her team handles patient ascertainment and genomic analysis, and our lab contributes Drosophila-based functional genomics. MARK2 was... Read More
Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? JA: There are several important motivations for this work. First, breast cancer is a prevalent female cancer, affecting approximately one in eight women in the United States. This means we all know someone affected by breast cancer and have... 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