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
For Immediate Release: September 4, 2024, 11:30 a.m. U.S. Eastern Time Media Contact: Kara Flynn, (202) 257-8424, [email protected] ROCKVILLE, MD – The American Society of Human Genetics (ASHG) announced today the election of Susan A. Slaugenhaupt, PhD as ASHG’s 2025 President-elect; and of Melinda C. Aldrich, PhD, MPH, Chester W. Brown, MD, PhD, and Beth A.... Read More
Posted By: HGG Advances HGGA: What motivated you to start working on this project? RMS: The traditional approach to using model organisms is to introduce disease-associated variants and test for disease mechanisms. We wanted to try to flip this paradigm around, using what we knew about the properties of pathogenic aminoacyl-tRNA synthetase (ARS) variants to... Read More