Elaine R. Mardis, Ph.D.,  McDonnell Genome Institute

In 1993, Dr. Mardis joined the faculty at Washington University School of Medicine. Recruited for her expertise in DNA sequencing and automation technology, she served as Director of Technology Development at the (then) Washington University Genome Sequencing Center, helping create methods and automation pipelines for sequencing the Human Genome. In 2014, Dr. Mardis was named the Robert E. and Louise F. Dunn Distinguished Professor of Medicine.

Dr. Mardis has research interests in the application of next-generation sequencing to characterize cancer genomes and transcriptomes, and using these data to support therapeutic decision-making. She co-led the teams that first used next-generation sequencing to characterize the whole genome of an AML patient (Nature 2008), first sequenced and compared a primary tumor to its metastasis and xenograft, and first reported whole genome sequencing of samples from a breast cancer clinical trial. Beyond cancer genomics discoveries, Dr. Mardis is leading efforts to facilitate the translation of basic science discoveries about human genetic diseases into the clinical setting, especially focused on the use of next-generation sequencing. Her translational research efforts aim to devise NGS-based diagnostics, decision-support tools and databases, and the use of genomics to design personalized cancer vaccines.

Dr. Mardis was elected to the AACR Board of Directors in 2015. She serves as an associate editor of Molecular Cancer Research, Disease Models and Mechanisms and Annals of Oncology, and acts as a reviewer for Nature, the New England Journal, Cell and Science. She is the Editor-in-Chief of Molecular Case Studies. She serves on the scientific advisory boards of Qiagen Ingenuity, DNA Nexus, and ZS Genetics, and is a member of the Supervisory Board of Qiagen N.V. Dr. Mardis received the 2010 Scripps Translational Research award for her work on cancer genomics, and was named a Distinguished Alumni of the University of Oklahoma College of Arts and Sciences in 2011. Discover Magazine featured her work in cancer genomics as one of their top 100 science stories of 2013. In 2014 and 2015, she was one of the most highly cited researchers in the world, according to Thompson-Reuters. She will receive the Morton K. Schwartz award from the American Association of Clinical Chemistry for Significant Contributions in Cancer Research Diagnostics in 2016.

Dr. Mardis is also Professor in the Department of Genetics, with an adjunct appointment in the Department of Molecular Microbiology. Prior to joining the Washington University faculty, she was a senior research scientist at Bio-Rad Laboratories in Hercules, CA. Dr. Mardis received her B.S. degree (Zoology- Phi Beta Kappa, 1984) and her Ph.D. (Chemistry and Biochemistry, 1989) from the University of Oklahoma.


title citation publication date
An mRNA Gene Expression-Based Signature to Identify FGFR1-Amplified Estrogen Receptor-Positive Breast Tumors. J Mol Diagn. 2017 Jan;19(1):147-161. doi: 10.1016/j.jmoldx.2016.09.007. 2017-01-19
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Temporally Distinct PD-L1 Expression by Tumor and Host Cells Contributes to Immune Escape Cancer Immunol Res. 2017 Feb;5(2):106-117. doi: 10.1158/2326-6066.CIR-16-0391. Epub 2017 Jan 10. 2017-02-05
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Optimizing cancer genome sequencing and analysis. Cell Syst. 2015 Sep 23;1(3):210-223. 2015-09-23
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The Dynamic Genome and Transcriptome of the Human Fungal Pathogen Blastomyces and Close Relative Emmonsia. PLoS Genet. 2015 Oct 6;11(10):e1005493. doi: 10.1371/journal.pgen.1005493. eCollection 2015. 2015-10-06
Comprehensive Molecular Portraits of Invasive Lobular Breast Cancer. Cell. 2015 Oct 8;163(2):506-19. doi: 10.1016/j.cell.2015.09.033. 2015-10-08
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A dendritic cell vaccine increases the breadth and diversity of melanoma neoantigen-specific T cells. Science. 2015 Apr 2. pii: aaa3828. [Epub ahead of print] 2015-04-02
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Xenografts as Models of Clonal Selection and Acquired Resistance to Therapy. Clin Chem. 2015 Mar 2. pii: clinchem.2014.237289. [Epub ahead of print] 2015-03-02
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Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome. J Am Coll Cardiol. 2014 Apr 15;63(14):1430-7. doi: 10.1016/j.jacc.2014.01.031. Epub 2014 Feb 19. 2014-04-15
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