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: 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
Posted By: Kylee L. Spencer, PhD, Assistant Editor, AJHG KLS: What motivated you to start working on this project? EAS: Over the past 14 years conducting research in Africa, I’ve heard the same frustrations from African colleagues about insufficient funding for research, a lack of lab resources and infrastructure, and limited opportunities for advanced training.... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? AP: I‘ve had an interest in structural variants (SVs) ever since working on microdeletions identified in array data from the Autism Genomes Project. Now that large clinical genome sequencing datasets are available via the 100k Genomes Project,... Read More