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: HGG Advances HGGA: What motivated you to start working on this project? CS: In order to move from genome-wide associated loci toward potentially effective clinical and therapeutic targets, we need to identify which target/effector gene(s) the associate variants are being modulated. There are multiple methods that currently exist that can be used to... 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
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