“inside ajhg” Search Results

Alexander Gusev, PhD is an Associate Professor in the Department of Medical Oncology at Harvard University and a member of the Dana-Farber Cancer Institute.

Inside AJHG: A Chat with Alexander (Sasha) Gusev

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

Douglas M. Fowler, PhD, is a Professor of Genome Sciences at the University of Washington.

Inside AJHG: A Chat with Doug Fowler

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

Santhosh Girirajan, MBBS, PhD, is a Professor of Genomics and the T. Ming Chu Professor of Biochemistry and Molecular Biology in the Department of Biochemistry and Molecular Biology and of Anthropology at Pennsylvania State University.

Inside AJHG: A Chat with Santhosh Girirajan

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

Inside <em>AJHG</em>: A Chat with Maya Sabatello and Greta Goto

Inside AJHG: A Chat with Maya Sabatello and Greta Goto

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

Diptavo Dutta, PhD is an investigator in the Division of Cancer Epidemiology & Genetics at the National Cancer Institute.

Inside HGG Advances: A Chat with Diptavo Dutta

Posted By: HGG Advances HGGA: What motivated you to start working on this project? DD: The scientific motivation of this work was to investigate, for diseases, whether there are tissues beyond the obvious candidates where genes might manifest associations, and if so, can we interpret such findings from an etiologic viewpoint. The statistical method is... Read More

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