Posted By: HGG Advances HGGA: What motivated you to start working on this project? GP: Non-alcoholic fatty liver disease is a silent epidemic, and 25% of Americans are affected by it. There are currently not any medications approved for this disease. This is partly because we poorly understand the genetic mechanisms associated with this disease.... Read More
Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? HW: We know from eQTL studies that trans-acting loci tend to have smaller effect sizes than cis-acting loci. By aggregating cis-acting effects into one predicted expression level, as is done in the TWAS method PrediXcan, we had... Read More
For Immediate Release: Thursday, February 15, 2024, 3:00pm U.S. Eastern Time Media Contact: Kara Flynn, 202.257.8424, [email protected] ROCKVILLE, MD - The American Society of Human Genetics (ASHG) is excited to announce the selection of Amanda Perl as the organization’s next Chief Executive Officer. Perl has served in numerous association leadership positions with deep experience in strategic... Read More
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