AJHG

Elizabeth Sawchuk and Kendra Sirak

Inside AJHG: A Chat with Elizabeth A. Sawchuk, and Kendra A. Sirak

Posted By: Kylee L. Spencer, PhD, Assistant Editor, AJHG KLS: What motivated you to start working on this project? EAS: Over the past 14 years conducting research in Africa, I’ve heard the same frustrations from African colleagues about insufficient funding for research, a lack of lab resources and infrastructure, and limited opportunities for advanced training.... Read More

Alistair Pagnamenta, PhD

Inside AJHG: A Chat with Alistair Pagnamenta

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? AP: I‘ve had an interest in structural variants (SVs) ever since working on microdeletions identified in array data from the Autism Genomes Project. Now that large clinical genome sequencing datasets are available via the 100k Genomes Project,... Read More

Inside <em>AJHG</em>: A Chat with Yun Li and Quan Sun

Inside AJHG: A Chat with Yun Li and Quan Sun

Posted By: Kylee Spencer, PhD, Assistant Editor, AJHG KS: What motivated you to start working on this project? YL and QS: Genotype imputation is a standard practice but not all variants can be well imputed. State-of-the-art approaches perform poorly for low frequency variants (LFVs) and rare variants (RVs), either removing well-imputed variants or failing to... Read More

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

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