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? CSR: We’re the only clinical genetics lab for the only medical school in Oregon – OHSU is a major healthcare provider for the Oregon population. Our lab had the expertise to carry out the genetic testing, interpretation... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? JT: The unresolved mystery of personal history. Alright, that’s unnecessarily cryptic, let me try again. Upon completing my undergraduate studies, I found myself the unwilling protagonist of a medical odyssey, one highlighted by indiscriminate immune attack and... Read More