Posted By: The American Journal of Human Genetics, AJHG AJHG: What motivated you to start working on this project? TS: Expanding from rare inborn errors of immunity to population-scale genomics has been a transformative experience for me. While single-gene disorders gave me a strong foundation in genetics and immunology, I was particularly motivated to explore... Read More
Posted By: Alyson Barnes, PhD, Assistant Editor, AJHG AB: What motivated you to start working on this project? JH: One of my interests in genetics research is to help reduce disparities between populations, so that we can achieve more inclusive and effective risk prediction/healthcare. Although more focused on the methodological aspects, in this project we... Read More
Posted By: Alyson Barnes, PhD, Assistant Editor, AJHG AB: What motivated you to start working on this project? AH: Although I was born in Armenia, I emigrated at the age of three and spent most of my life living abroad. Over the years, I found myself feeling increasingly distanced from my homeland and its history.... Read More
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
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