data

Researchers’ Article Named ‘Paper of the Month’ by Genetic Epidemiology Society

Published in the journal Scientific Reports, the paper provides a novel, time-efficient approach for large, genome-wide association analysis.

A paper led by SPH researchers was recently named by the International Genetic Epidemiology Society Communications Committee as the paper of the month for January 2021. The researchers were notified of the award in March 2021.

The paper was published in the journal Scientific Reports and provides a novel approach for large genome-wide association analysis (GWAS) to approximate the effect of additional covariates by using existing GWAS results without needing to rerun a full analysis.

“This approach is extremely useful when working with large consortia with multiple studies,” says co-first author Peitao Wu, a doctoral student in the Department of Biostatistics. “In these cases, rerunning analyses is not feasible but covariate adjustment is critical for interpretation.”

Running a GWAS using data from large consortia is an effective way to identify genetic factors associated with certain traits of interest, such as diseases. When running these analyses, it is also necessary to control for additional factors, known as covariates, that may influence the relationship between genetic variants and the traits of interest to ensure accurate results.

Rerunning a GWAS with additional covariates is challenging because millions of variants need to be reinvestigated, says co-first author Biqi Wang, postdoctoral associate in the Department of Biostatistics. “Our method—which requires only an estimate of the relationships between the traits of interest and the covariates with genetic variants to apply our formulas to—provides an efficient way to overcome the challenges of this time-consuming process because we do not need to rerun the GWAS one variant at a time.”

Wu and Wang say that this innovative approach to data analysis can be widely applied to a variety of traits of interest, including obesity, atrial fibrillation, or fasting insulin.

The paper’s senior author is Josée Dupuis, professor and chair of biostatistics. At SPH, the study was also co-authored by Emelia Benjamin, professor of epidemiology. The other co-authors are Steven Lubitz, cardiologist and cardiac electrophysiologist at Massachusetts General Hospital; and James Meigs, professor of medicine at Harvard Medical School and co-director of the Massachusetts General Hospital Clinical Research Program’s Clinical Effectiveness Research Group.