Inside AJHG

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SG: Tumor Mutational Burden (TMB) is one of a few FDA approved biomarkers for immunotherapy in solid tumors but the mechanisms for why certain tumors are TMB-high and why certain TMB-high tumors still do not respond to... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? DF: I initially trained as a chemist, so I’m surprised to have written this paper about variants of uncertain significance. I moved from chemistry to genomics because it was, and still is, a hotbed of technological development.... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? SG: My lab has been studying the mechanisms underlying the variable expressivity of rare variants in complex disorders like autism and intellectual disability. We observed that affected children inheriting a variably expressive rare variant (such as 16p12.1... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? YT: As a researcher, it is important for me to think about this problem: what can you do to ensure the results and the benefits of your research are equally shared by everyone? It has been widely... Read More

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? MS and GG: There’s been much discussion about the underrepresentation of historically marginalized gender, racial and ethnic groups in precision medicine research and the ramification of this underrepresentation for health equity. We are a diverse team, all... Read More