Posted By: HGG Advances HGGA: What motivated you to start working on this project? CS: When Katrina Claw, PhD, and Randi Johnson, PhD, MPH, reached out about this project, I was excited to learn more about the Colorado Center for Personalized Medicine Biobank on our campus. Being in the Claw lab, I have been part... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? TR: I started this project as a postdoc, and my interests include variant classification and investigating the clinical utility and impact of exome sequencing. HGGA: What about this paper/project most excites you? TR: I appreciate that this was a very collaborative... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? AT: With my PhD training in statistical genetics and genomics, I was eager to complement my discovery-focused training with functional genomics approaches during my postdoc. During this stage of my training, I’ve focused on using massively parallel reporter assays (MPRAs), which are used to measure... Read More
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: 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