Posted By: HGG Advances
Each month, the editors of Human Genetics and Genomics Advances interview an early-career researcher who has published work in the Journal. This month we check in with Tommer Schwarz (@TommerSchwarz) to discuss his paper “Powerful eQTL mapping through low-coverage RNA sequencing”.
HGGA: What motivated you to start working on this project?
TS: As RNA-seq is now the state-of-the-art method for measuring gene expression, we were motivated to help researchers better design these experiments for eQTL mapping, a common application using RNA-seq data. We found that it’s possible to boost association power by reducing coverage and increasing the number of samples included.
HGGA: What about this paper/project most excites you?
TS: Knowing that our work can help guide other projects down the road is super exciting! As part of our work, we made a web application to help scientists design their RNA-seq experiments to maximize eQTL discovery power. Check it out here: https://tomschwarz.shinyapps.io/RNASeqCoverageCalculator/
HGGA: What do hope is the impact of this work for the human genetics community?
TS: As we have seen for GWAS, much larger sample sizes, including far more ancestral diversity will help enable more discoveries in transcriptomics. We hope that our work will accelerate work relating to eQTL mapping in understudied populations by helping to efficiently allocate resources in RNA-seq experiment design.
HGGA: What are some of the biggest challenges you’ve faced as a young scientist?
TS: The interdisciplinary nature of research has presented some very fun and exciting challenges for me in my path as a scientist. My background is in genetics, but my graduate school research has involved a good amount of statistical and computational analysis. I have really appreciated the opportunity to work in a supportive and collaborative environment with researchers from many disciplines.
HGGA: And for fun, what is one of the most fascinating things in genetics you’ve learned about in the past year or so?
TS: It has been fascinating to see the role that genomics and bioinformatics have continued to play in managing the global health response to the COVID-19 pandemic. Testing for cases, monitoring new variants, and identifying high-risk individuals are just a few of many important problems that genomics-based approaches have helped with since the onset of the pandemic.