AJHG

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: 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: Alyson Barnes, PhD, Assistant Editor, AJHG AB: What motivated you to start working on this project? KF: Our research group’s primary focus is to use artificial intelligence and deep learning-based approaches to study clinically-relevant genetics questions. This specific project is motivated by the rapid increase in the use of large language models (LLMs)... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? MG: During the pandemic, I found myself at home with three kids under five and adjusting to a totally new type of “normal,” which drove me to reprioritize my research goals. Being physically away from the bench,... Read More