AJHG

Karen Conneely, PhD is an Associate Professor in the Department of Human Genetics at Emory University. Nicholas Johnson, PhD was a predoctoral student in the Population Biology, Ecology, and Evolution Graduate Program at Emory University while this work was being completed. He is now employed as a Mathematical Statistician at the Centers for Disease Control and Prevention.

Inside AJHG: A Chat with Karen Conneely and Nicholas Johnson

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? KC: We were intrigued by the promise of single-cell DNA methylation data for a number of reasons, including the ability to more directly examine allele-specific methylation associated with germline or somatic variants. Single-cell approaches for DNA methylation... Read More

Heather Wheeler, PhD is an Associate Professor in the Department of Biology at Loyola University Chicago

Inside AJHG: A Chat with Heather Wheeler

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

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

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