Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–291.
Gauthier LD, Greenstein JL, O'Rourke B, et al. An integrated mitochondrial ROS production and scavenging model: implications for heart failure. Biophys J. 2013;105(12):2832–2842.
Gauthier LD, Greenstein JL, Cortassa S, et al. A computational model of reactive oxygen species and redox balance in cardiac mitochondria. Biophys J. 2013;105(4):1045–1056.
Laura Gauthier, Ph.D.
Laura Gauthier is a computational biologist with a joint appointment in the in the MacArthur Lab and the Data Sciences & Data Engineering Program at the Broad Institute of MIT and Harvard, working under the direction of Eric Banks.
Since joining the Broad Institute in 2014, Gauthier has been contributor to the institute's Genome Analysis Toolkit (GATK), including variant discovery tools such as the HaplotypeCaller and MuTect2. Her work also includes developing computational methods for separating real genetic variants from artifacts in high-throughput sequencing data. Recently she has been focused on enabling the production and analysis of variant datasets for unprecedentedly large cohorts like ExAC and GnomAD. Since August 2015, Gauthier has worked with the MacArthur Lab on the development and optimization of variant-calling pipelines for rare disease samples for the Centers for Mendelian Genomics.
Gauthier holds a Ph.D. and a B.S. in biomedical engineering from Johns Hopkins University, where she also worked as a research assistant and received a National Science Foundation Graduate Research Fellowship (2009) and a National Defense Science and Engineering Fellowship (2008), and held a summer fellowship (2006) at the Institute for Computational Medicine.
Contact Laura Gauthier at email@example.com.