Posted By: Alyson Barnes, PhD, Deputy Editor, AJHG AB: What motivated you to start working on this project? My lab used to be more yeast-focused and, back in 2018, CHEK2 was on a short list of human genes that complement loss of the corresponding yeast genes. Really though it was Sean Tavtigian at University of Utah (thanks... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? SG: There has been a lot of work in recent years on developing polygenic scores (PGS) for multi-ancestry populations, but most studies have focused on populations genetically similar to European and East Asian reference groups. In this project, we utilize data... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? For some time, I had thought that a comprehensive review of the pleiotropy associated with the 16p11.2 BP4-5 CNVs was missing. I was convinced that such a report would be useful to many geneticists and clinicians. The... Read More
Posted By: Alyson Barnes, PhD, Assistant Editor, AJHG AB: What motivated you to start working on this project? CV: A few different factors came together at the right time for me to work on this project! First, I’m a queer scientist and started getting involved in queer advocacy within the last few years. Asexual and... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? ZL: Mendelian randomization (MR) is a powerful and increasingly popular tool for understanding the causal relationships between complex traits and diseases, especially with the growing availability of GWAS summary statistics. However, MR consistently faces the challenge of horizontal pleiotropy. While there... Read More