Elaine R. Mardis, Ph.D.
Elaine R. Mardis, Ph.D.
Co-Director, Director of Technology Development
Mailing Address
Email Elaine R. Mardis
Assistant: Jeanne Grigsby
Email Jeanne Grigsby
Phone: +1-314-286-1924
Dr. Mardis joined The Genome Institute in 1993. As Director of Technology Development she has helped create methods and automation pipelines for sequencing the human genome. She currently orchestrates the institute's efforts to explore next generation and third generation sequencing technologies and transition them into production sequencing capabilities.
Dr. Mardis has research interests in the application of DNA sequencing to characterize cancer genomes. She also is interested in facilitating the translation of basic science discoveries about human disease into the clinical setting.
Dr. Mardis serves on several NIH study sections, is an editorial board member of Genome Research and acts as a reviewer for Nature and Genome Research. She serves as chair of the Basic and Translational Sciences Committee for the American College of Surgeons Oncology Group, a National Cancer Institute-funded cooperative group. She serves on the scientific advisory boards of Pacific Biosciences, Inc. and Edge Biosciences, Inc. In 2010 Dr. Mardis received the 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 for 2011.
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 with Highest Honors, 1984) and her Ph.D. (Chemistry and Biochemistry, 1989) from the University of Oklahoma.
Selected Publications
Matsushita H, Vesely MD, Koboldt DC, Rickert CG, Uppaluri R, Magrini VJ, Arthur CD, White…
Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting.
Nature. 2012 Feb 8 [Epub ahead of print]. Link | View Abstract
Koboldt DC, Zhang Q, Larson DE, Shen D, McLellan MD, Lin L, Miller CA, Mardis…
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing.
Genome Res. 2012 Feb 2. [Epub ahead of print] PubMed | View Abstract
St. Jude Children's Research Hospital-Washington University Pediatric Cancer Genome Project, Wu G, Broniscer A, McEachron…
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas.
Nat Genet. 2012 Jan 29 [Epub ahead of print] PubMed | View Abstract
Ding L, Ley TJ, Larson DE, Miller CA, Koboldt DC, Welch JS, Ritchey JK, Young…
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing.
Nature. 2012 Jan 11. doi: 10.1038/nature10738. [Epub ahead of print] PubMed | View Abstract
Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen…
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia.
Nature. 2012 Jan 11;481(7380):157-63. doi: 10.1038/nature10725. PubMed | View Abstract
Zhang J, Benavente CA, McEvoy J, Flores-Otero J, Ding L, Chen X, Ulyanov A, Wu…
A novel retinoblastoma therapy from genomic and epigenetic analyses.
Nature. 2012 Jan 11. doi: 10.1038/nature10733. [Epub ahead of print] PubMed | View Abstract
Swart EC, Nowacki M, Shum J, Stiles H, Higgins BP, Doak TG, Schotanus K, Magrini…
The Oxytricha trifallax mitochondrial genome.
Genome Biol Evol. 2011 Dec 16. [Epub ahead of print] PubMed | View Abstract
Graubert T, Shen D, Ding L, Okeyo-Owuor T, Lunn CL, Shao J, Krysiak K, Harris…
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes
Nature Genetics. 2011 Dec 11. [Advanced online publication] PubMed | View Abstract
Larson DE, Harris CC, Chen K, Koboldt DC, Abbott TE, Dooling DJ, Ley TJ, Mardis…
SomaticSniper: Identification of Somatic Point Mutations in Whole Genome Sequencing Data.
Bioinformatics. 2011 Dec 6. [Epub ahead of print] PubMed | View Abstract
Graubert TA, Mardis ER.
Genomics of acute myeloid leukemia.
Cancer J. 2011 Nov;17(6):487-91. PubMed | View Abstract
Lindblad-Toh K, Garber M, Zuk O, Lin MF, Parker BJ, Washietl S, Kheradpour P, Ernst…
A high-resolution map of human evolutionary constraint using 29 mammals.
Nature. 2011 Oct 12;478(7370):476-82. doi: 10.1038/nature10530. PubMed | View Abstract
Marth GT, Yu F, Indap AR, Garimella K, Gravel S, Leong WF, Tyler-Smith C, Bainbridge…
The functional spectrum of low-frequency coding variation.
Genome Biol. 2011 Sep 14;12(9):R84. [Epub ahead of print] PubMed | View Abstract
Danecek P, Auton A, Abecasis G, Albers CA, Banks E, DePristo MA, Handsaker RE, Lunter…
The variant call format and VCFtools.
Bioinformatics. 2011 Aug 1;27(15):2156-8. Epub 2011 Jun 7. PubMed | View Abstract
Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs…
Demographic history and rare allele sharing among human populations.
Proc Natl Acad Sci U S A. 2011 Jul 19;108(29):11983-11988. Epub 2011 Jul 5. PubMed | View Abstract
Church DM, Schneider VA, Graves T, Auger K, Cunningham F, Bouk N, Chen HC, Agarwala…
Modernizing reference genome assemblies.
PLoS Biol. 2011 Jul;9(7):e1001091. Epub 2011 Jul 5. PubMed | View Abstract
