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

Dr. Mardis joined The Genome Institute in 1993. As Director of Technology Development, she helped create methods and automation pipelines for sequencing the human genome.

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 also is interested in facilitating the translation of basic science discoveries about human disease into the clinical setting.

Dr. Mardis serves as an editorial board member of Molecular Cancer Research, Disease Models and Mechanisms and Annals of Oncology, and acts as a reviewer for Nature, the New England Journal of Medicine, Cell, and Genome Research. She serves on the scientific advisory boards of Qiagen Ingenuity, DNA Nexus, and ZS Genetics. Dr. Mardis received the Scripps Translational Research award for her work on cancer genomics in 2010, and was named a Distinguished Alumni of the University of Oklahoma College of Arts and Sciences for 2011. Discover Magazine featured her work in cancer genomics as one of their top 100 science stories in 2013.

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.

Publications

title citation publication date
Clinical Significance of CTNNB1 Mutation and Wnt Pathway Activation in Endometrioid Endometrial Carcinoma. J Natl Cancer Inst. 2014 Sep 10;106(9). pii: dju245. doi: 10.1093/jnci/dju245. Print 2014 Sep. 2014-09-10
Targetable kinase-activating lesions in Ph-like acute lymphoblastic leukemia. N Engl J Med. 2014 Sep 11;371(11):1005-15. doi: 10.1056/NEJMoa1403088. 2014-09-11
C11orf95-rela fusions drive oncogenic NF-kb signaling in ependymoma. Neuro Oncol. 2014 Jul;16 Suppl 3:iii16. doi: 10.1093/neuonc/nou206.57. 2014-07-01
SciClone: Inferring Clonal Architecture and Tracking the Spatial and Temporal Patterns of Tumor Evolution. PLoS Comput Biol. 2014 Aug 7;10(8):e1003665. doi: 10.1371/journal.pcbi.1003665. eCollection 2014. 2014-08-07
Comprehensive molecular profiling of lung adenocarcinoma. Nature. 2014 Jul 31;511(7511):543-50. doi: 10.1038/nature13385. Epub 2014 Jul 9. 2014-07-09
The translation of cancer genomics: time for a revolution in clinical cancer care. Genome Med. 2014 Mar 26;6(3):22. doi: 10.1186/gm539. eCollection 2014. 2014-03-26
The common marmoset genome provides insight into primate biology and evolution. Nat Genet. 2014 Jul 20. doi: 10.1038/ng.3042. [Epub ahead of print] 2014-07-20
Clonal architecture of secondary acute myeloid leukemia defined by single-cell sequencing. PLoS Genet. 2014 Jul 10;10(7):e1004462. doi: 10.1371/journal.pgen.1004462. eCollection 2014. 2014-07-10
Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration. Hum Mol Genet. 2014 May 20. pii: ddu226. [Epub ahead of print] 2014-05-20
cDNA Hybrid Capture Improves Transcriptome Analysis on Low-Input and Archived Samples. J Mol Diagn. 2014 May 8. pii: S1525-1578(14)00072-5. doi: 10.1016/j.jmoldx.2014.03.004. [Epub ahead of print] 2014-05-08
The translation of cancer genomics: time for a revolution in clinical cancer care Genome Medicine 2014, 6:22 doi:10.1186/gm539 2014-03-26
The landscape of somatic mutations in epigenetic regulators across 1,000 paediatric cancer genomes. Nat Commun. 2014 Apr 8;5:3630. doi: 10.1038/ncomms4630. 2014-04-08
Recurrent somatic structural variations contribute to tumorigenesis in pediatric osteosarcoma. Cell Rep. 2014 Apr 10;7(1):104-12. doi: 10.1016/j.celrep.2014.03.003. Epub 2014 Apr 3. 2014-04-10
The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma. Nat Genet. 2014 May;46(5):444-50. doi: 10.1038/ng.2938. Epub 2014 Apr 6. 2014-05-01
A surprising cross-species conservation in the genomic landscape of mouse and human oral cancer identifies a transcriptional signature predicting metastatic disease. Clin Cancer Res. 2014 Mar 25. [Epub ahead of print] 2014-03-25
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
A course-based research experience: how benefits change with increased investment in instructional time. CBE Life Sci Educ. 2014 Spring;13(1):111-30. doi: 10.1187/cbe-13-08-0152. 2014-03-01
Functional heterogeneity of genetically defined subclones in acute myeloid leukemia. Cancer Cell. 2014 Mar 17;25(3):379-92. doi: 10.1016/j.ccr.2014.01.031. Epub 2014 Mar 6. 2014-03-17
Ancestry estimation and control of population stratification for sequence-based association studies. Nat Genet. 2014 Apr;46(4):409-15. doi: 10.1038/ng.2924. Epub 2014 Mar 16. 2014-04-01
Deciphering root causes of intrinsic BRAF inhibitor resistance in melanoma: Ushering in a new genomics case reports feature for Annals of Oncology. Ann Oncol. 2014 Feb 25. [Epub ahead of print] 2014-02-25
C11orf95-RELA fusions drive oncogenic NF-kappaB signalling in ependymoma. Nature. 2014 Feb 27;506(7489):451-5. doi: 10.1038/nature13109. Epub 2014 Feb 19. 2014-02-27
Integration of Sequence Data from a Consanguineous Family with Genetic Data from an Outbred Population Identifies PLB1 as a Candidate Rheumatoid Arthritis Risk Gene. PLoS One. 2014 Feb 10;9(2):e87645. doi: 10.1371/journal.pone.0087645. eCollection 2014. 2014-02-10
RB1 gene inactivation by chromothripsis in human retinoblastoma. Oncotarget. 2014 Jan 11. [Epub ahead of print] 2014-01-11
Integrated analysis of germline and somatic variants in ovarian cancer. Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156. 2014-01-22
What's Different about Women's Health? Clin Chem. 2014 Jan;60(1):1-3. doi: 10.1373/clinchem.2013.216598. 2014-01-01
Targeting oxidative stress in embryonal rhabdomyosarcoma. Cancer Cell. 2013 Dec 9;24(6):710-24. doi: 10.1016/j.ccr.2013.11.002. 2013-12-09
AACR Cancer Progress Report 2013. Clin Cancer Res. 2013 Oct 15;19(20 Suppl):S1-S98. doi: 10.1158/1078-0432.CCR-13-2107. Epub 2013 Sep 16. 2013-10-15
F11R Is a Novel Monocyte Prognostic Biomarker for Malignant Glioma. PLoS One. 2013 Oct 11;8(10):e77571. doi: 10.1371/journal.pone.0077571. 2013-10-11
Integrative annotation of variants from 1092 humans: application to cancer genomics. Science. 2013 Oct 4;342(6154):1235587. doi: 10.1126/science.1235587. 2013-10-04
The Somatic Genomic Landscape of Glioblastoma. Cell. 2013 Oct 10;155(2):462-477. doi: 10.1016/j.cell.2013.09.034. 2013-10-10
DGIdb: mining the druggable genome. Nat Methods. 2013 Oct 13. doi: 10.1038/nmeth.2689. [Epub ahead of print] 2013-10-13
The next-generation sequencing revolution and its impact on genomics. Cell. 2013 Sep 26;155(1):27-38. doi: 10.1016/j.cell.2013.09.006. 2013-09-26
The Cancer Genome Atlas Pan-Cancer analysis project. Nat Genet. 2013 Sep 26;45(10):1113-20. doi: 10.1038/ng.2764. 2013-09-26
Endocrine-Therapy-Resistant ESR1 Variants Revealed by Genomic Characterization of Breast-Cancer-Derived Xenografts. Cell Rep. 2013 Sep 18. pii: S2211-1247(13)00463-4. doi: 10.1016/j.celrep.2013.08.022. [Epub ahead of print] 2013-09-18
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. Nat Genet. 2013 Sep 15. doi: 10.1038/ng.2758. [Epub ahead of print] 2013-09-15
BreakTrans: uncovering the genomic architecture of gene fusions. Genome Biol. 2013 Aug 23;14(8):R87. [Epub ahead of print] 2013-08-23
Capillary electrophoresis platforms for DNA sequence analysis. J Biomol Tech. 1999 Sep;10(3):137-43. 1999-09-01
The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003;68:13-22. 2003-01-01
A Drosophila model of multiple endocrine neoplasia type 2. Genetics. 2005 Nov;171(3):1057-81. Epub 2005 Jun 18. 2005-11-01
Direct genomic selection. Nat Methods. 2005 Jan;2(1):63-9. 2005-01-01
Comparison of dot chromosome sequences from D. melanogaster and D. virilis reveals an enrichment of DNA transposon sequences in heterochromatic domains. Genome Biol. 2006;7(2):R15. Epub 2006 Feb 20. 2006-02-20
Blinded comparison of repetitive-sequence PCR and multilocus sequence typing for genotyping methicillin-resistant Staphylococcus aureus isolates from a children's hospital in St. Louis, Missouri. J Clin Microbiol. 2006 Jun;44(6):2254-7. 2006-06-01
Expression of a bcr-1 isoform of RARalpha-PML does not affect the penetrance of acute promyelocytic leukemia or the acquisition of an interstitial deletion on mouse chromosome 2. Blood. 2007 Feb 1;109(3):1237-40. Epub 2006 Sep 28. 2007-02-01
Analysis of the prostate cancer cell line LNCaP transcriptome using a sequencing-by-synthesis approach. BMC Genomics. 2006 Sep 29;7:246. 2006-09-29
What is the future of electrophoresis in large-scale genomic sequencing? Electrophoresis. 2006 Oct;27(19):3689-702. 2006-07-11
A sequence motif within chromatin entry sites directs MSL establishment on the Drosophila X chromosome. Cell. 2008 Aug 22;134(4):599-609. doi: 10.1016/j.cell.2008.06.033. 2008-08-22
The value of avian genomics to the conservation of wildlife. BMC Genomics. 2009 Jul 14;10 Suppl 2:S10. doi: 10.1186/1471-2164-10-S2-S10. 2009-07-14
Evolution of a distinct genomic domain in Drosophila: comparative analysis of the dot chromosome in Drosophila melanogaster and Drosophila virilis. Genetics. 2010 Aug;185(4):1519-34. doi: 10.1534/genetics.110.116129. Epub 2010 May 17. 2010-08-01
HGV2009 meeting: bigger and better studies provide more answers and more questions. Hum Mutat. 2010 Jul;31(7):886-8. doi: 10.1002/humu.21270. 2010-07-01
Assuring the quality of next-generation sequencing in clinical laboratory practice. Nat Biotechnol. 2012 Nov;30(11):1033-6. doi: 10.1038/nbt.2403. 2012-11-01
Mutational profiling in the human genome. Cold Spring Harb Symp Quant Biol. 2003;68:23-9. 2003-01-01
Sequence and analysis of chromosome 4 of the plant Arabidopsis thaliana. Nature. 1999 Dec 16;402(6763):769-77. 1998-12-16
A pneumatic device for rapid loading of DNA sequencing gels. Genome Res. 1998 May;8(5):543-8. 1998-05-01
Genomic and Epigenomic Landscapes of Adult De Novo Acute Myeloid Leukemia. N Engl J Med. 2013 May 1. [Epub ahead of print] 2013-05-01
Integrated genomic characterization of endometrial carcinoma. Nature. 2013 May 2;497(7447):67-73. doi: 10.1038/nature12113. 2013-05-02
Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas. Nat Genet. 2013 Apr 14. doi: 10.1038/ng.2611. [Epub ahead of print] 2013-04-14
Next-Generation Sequencing Platforms. Annu Rev Anal Chem (Palo Alto Calif). 2013 Apr 1. [Epub ahead of print] 2013-04-01
The western painted turtle genome, a model for the evolution of extreme physiological adaptations in a slowly evolving lineage. Genome Biol. 2013 Mar 28;14(3):R28. [Epub ahead of print] 2013-03-18
Clonal diversity of recurrently mutated genes in myelodysplastic syndromes. Leukemia. 2013 Feb 27. doi: 10.1038/leu.2013.58. [Epub ahead of print] 2013-02-27
The Oxytricha trifallax Macronuclear Genome: A Complex Eukaryotic Genome with 16,000 Tiny Chromosomes. PLoS Biol. 2013 Jan;11(1):e1001473. doi: 10.1371/journal.pbio.1001473. Epub 2013 Jan 29. 2013-01-29
The genomic landscape of hypodiploid acute lymphoblastic leukemia. Nat Genet. 2013 Jan 20. doi: 10.1038/ng.2532. [Epub ahead of print] 2013-01-20
Genomic impact of transient low-dose decitabine treatment on primary AML cells. Blood. 2013 Jan 7. [Epub ahead of print] 2013-01-07
Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. Genome Res. 2012 Dec 5. [Epub ahead of print] 2012-12-05
Activating HER2 Mutations in HER2 Gene Amplification Negative Breast Cancer. Cancer Discov. 2012 Dec 7. [Epub ahead of print] 2012-12-07
Assessing telomeric DNA content in pediatric cancers using whole-genome sequencing data. Genome Biol. 2012 Dec 11;13(12):R113. [Epub ahead of print] 2012-12-11
An Inv(16)(p13.3q24.3)-Encoded CBFA2T3-GLIS2 Fusion Protein Defines an Aggressive Subtype of Pediatric Acute Megakaryoblastic Leukemia. Cancer Cell. 2012 Nov 13;22(5):683-97. doi: 10.1016/j.ccr.2012.10.007. 2012-11-13
An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 Nov 1;491(7422):56-65. doi: 10.1038/nature11632. 2012-11-01
Comprehensive molecular portraits of human breast tumours. Nature. 2012 Sep 23. doi: 10.1038/nature11412. [Epub ahead of print] 2012-09-23
Genomic Landscape of Non-Small Cell Lung Cancer in Smokers and Never-Smokers Cell. 2012 Sep 14;150(6):1121-34. doi: 10.1016/j.cell.2012.08.024. 2012-09-14
Evaluation of 16S rDNA-Based Community Profiling for Human Microbiome Research PLoS One. 2012;7(6):e39315. Epub 2012 Jun 13. 2012-06-13
Whole-genome analysis informs breast cancer response to aromatase inhibition. Nature. 2012 Jun 10;486(7403):353-60. doi: 10.1038/nature11143. 2012-06-10
The origin and evolution of mutations in acute myeloid leukemia. Cell. 2012 Jul 20;150(2):264-78. 2012-07-20
The 1000 Genomes Project: data management and community access. Nat Methods. 2012 Apr 27;9(5):459-62. doi: 10.1038/nmeth.1974. 2012-04-27
Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012 Jul 18;487(7407):330-7. doi: 10.1038/nature11252. 2012-07-18
Applying next-generation sequencing to pancreatic cancer treatment. Nat Rev Gastroenterol Hepatol. 2012 Jul 3. doi: 10.1038/nrgastro.2012.126. [Epub ahead of print] 2012-07-03
MuSiC: Identifying mutational significance in cancer genomes. Genome Res. 2012 Jul 3. [Epub ahead of print] 2012-07-03
Comprehensive genomic studies: emerging regulatory, strategic, and quality assurance challenges for biorepositories. Am J Clin Pathol. 2012 Jul;138(1):31-41. 2012-07-01
A 50 Gene Intrinsic Subtype Classifier for Prognosis and Prediction of Benefit from Adjuvant Tamoxifen. Clin Cancer Res. 2012 Jun 18. [Epub ahead of print] 2012-06-18
Novel mutations target distinct subgroups of medulloblastoma. Nature. 2012 Jun 20. doi: 10.1038/nature11213. [Epub ahead of print] 2012-06-20
A framework for human microbiome research. Nature. 2012 Jun 13;486(7402):215-21. doi: 10.1038/nature11209. 2012-06-13
Structure, function and diversity of the healthy human microbiome. Nature. 2012 Jun 13;486(7402):207-14. doi: 10.1038/nature11234. 2012-06-13
The pediatric cancer genome project. Nat Genet. 2012 May 29;44(6):619-22. doi: 10.1038/ng.2287. 2012-05-29
BreakFusion: Targeted Assembly-based Identification of Gene Fusions in Whole Transcriptome Paired-end Sequencing Data. Bioinformatics. 2012 May 4. [Epub ahead of print] 2012-05-04
Genome sequencing and cancer. Curr Opin Genet Dev. 2012 Apr 23. [Epub ahead of print] 2012-04-23
De novo gene disruptions in children on the autistic spectrum. Neuron. 2012 Apr 26;74(2):285-99. 2012-04-26
Background Mutations in Parental Cells Account for Most of the Genetic Heterogeneity of Induced Pluripotent Stem Cells. Cell Stem Cell. 2012 Apr 26. [Epub ahead of print] 2012-04-26
Clonal Architecture of Secondary Acute Myeloid Leukemia. N Engl J Med. 2012 Mar 22;366(12):1090-8. doi: 10.1056/NEJMoa1106968. Epub 2012 Mar 14. 2012-03-14
Association of age at diagnosis and genetic mutations in patients with neuroblastoma. JAMA. 2012 Mar 14;307(10):1062-71. 2012-03-14
Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting. Nature. 2012 Feb 8 [Epub ahead of print]. 2012-02-08
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 2012 Feb 2. [Epub ahead of print] 2012-02-12
Somatic histone H3 alterations in pediatric diffuse intrinsic pontine gliomas and non-brainstem glioblastomas. Nat Genet. 2012 Jan 29 [Epub ahead of print] 2012-01-29
Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature. 2012 Jan 11. doi: 10.1038/nature10738. [Epub ahead of print] 2012-01-11
The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature. 2012 Jan 11;481(7380):157-63. doi: 10.1038/nature10725. 2012-01-11
A novel retinoblastoma therapy from genomic and epigenetic analyses. Nature. 2012 Jan 11. doi: 10.1038/nature10733. [Epub ahead of print] 2012-01-11
The Oxytricha trifallax mitochondrial genome. Genome Biol Evol. 2011 Dec 16. [Epub ahead of print] 2011-12-16
Genomics of acute myeloid leukemia. Cancer J. 2011 Nov;17(6):487-91. 2011-11-30
SomaticSniper: Identification of Somatic Point Mutations in Whole Genome Sequencing Data. Bioinformatics. 2011 Dec 6. [Epub ahead of print] 2011-12-06
Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nat Genet. 2011 Dec 11. doi: 10.1038/ng.1031. [Epub ahead of print] 2011-12-11
The variant call format and VCFtools. Bioinformatics. 2011 Aug 1;27(15):2156-8. Epub 2011 Jun 7. 2011-08-01
The functional spectrum of low-frequency coding variation. Genome Biol. 2011 Sep 14;12(9):R84. [Epub ahead of print] 2011-09-14
A high-resolution map of human evolutionary constraint using 29 mammals. Nature. 2011 Oct 12;478(7370):476-82. doi: 10.1038/nature10530. 2011-10-12
Exploiting Oxytricha trifallax nanochromosomes to screen for non-coding RNA genes. Nucleic Acids Res. 2011 Jun 28. [Epub ahead of print] 2011-06-28
Variation in genome-wide mutation rates within and between human families. Nat Genet. 2011 Jun 12;43(7):712-714. doi: 10.1038/ng.862. 2011-06-12
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. 2011-07-19
Modernizing reference genome assemblies. PLoS Biol. 2011 Jul;9(7):e1001091. Epub 2011 Jul 5. 2011-07-05
Integrated genomic analyses of ovarian carcinoma Nature. 2011 Jun 29;474(7353):609-15. doi: 10.1038/nature10166. 2011-06-29
CREST maps somatic structural variation in cancer genomes with base-pair resolution. Nat Methods. 2011 Jun 12. doi: 10.1038/nmeth.1628. [Epub ahead of print] 2011-06-12
Fourteen-Genome Comparison Identifies DNA Markers for Severe Disease-Associated Strains of Clostridium difficile. J Clin Microbiol. 2011 Jun;49(6):2230-8. Epub 2011 Apr 20. 2011-04-20
Biome representational in silico karyotyping. Genome Res. 2011 Apr;21(4):626-33. Epub 2011 Feb 10. 2011-02-10
Histidine Protects Against Zinc and Nickel Toxicity in Caenorhabditis elegans. PLoS Genet. 2011 Mar;7(3):e1002013. Epub 2011 Mar 24. 2011-03-24
Identification of a Novel TP53 Cancer Susceptibility Mutation Through Whole-Genome Sequencing of a Patient With Therapy-Related AML JAMA. 2011 Apr 20;305(15):1568-1576. 2011-04-20
Use of Whole-Genome Sequencing to Diagnose a Cryptic Fusion Oncogene JAMA. 2011 Apr 20;305(15):1577-84. 2011-04-20
PathScan: A Tool for Discerning Mutational Significance in Groups of Putative Cancer Genes. Bioinformatics. 2011 Jun 15;27(12):1595-602. Epub 2011 Apr 14. 2011-04-14
A vertebrate case study of the quality of assemblies derived from next-generation sequences. Genome Biol. 2011 Mar 31;12(3):R31. [Epub ahead of print] 2011-03-31
Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression. J Clin Invest. 2011 Mar 23. pii: 45284. doi: 10.1172/JCI45284. [Epub ahead of print] 2011-03-23
Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia. 2011 Jul;25(7):1153-8. doi: 10.1038/leu.2011.44. Epub 2011 Mar 18. 2011-03-18
The draft genome of the parasitic nematode Trichinella spiralis Nat Genet. 2011 Mar;43(3):228-35. Epub 2011 Feb 20. 2011-02-20
A precise reconstruction of the emergence and constrained radiations of Escherichia coli O157 portrayed by backbone concatenomic analysis. Proc Natl Acad Sci U S A. 2009 May 26;106(21):8713-8. Epub 2009 May 13. 2009-05-26
A decade’s perspective on DNA sequencing technology Nature. 2011 Feb 10;470(7333):198-203. 2011-02-10
Mapping copy number variation by population-scale genome sequencing. Nature. 2011 Feb 3;470(7332):59-65. 2011-02-03
Comparative and demographic analysis of orang-utan genomes Nature. 2011 Jan 27;469(7331):529-33. 2011-01-27
A comparison of PAM50 intrinsic subtyping with immunohistochemistry and clinical prognostic factors in tamoxifen-treated estrogen receptor-positive breast cancer. Clin Cancer Res. 2010 Nov 1;16(21):5222-32. Epub 2010 Sep 13. 2010-11-01
Complete characterization of the microRNAome in a patient with acute myeloid leukemia. Blood. 2010 Dec 9;116(24):5316-26. Epub 2010 Sep 28. 2010-12-09
Novel venom gene discovery in the platypus. Genome Biol. 2010;11(9):R95. Epub 2010 Sep 29. 2010-09-29
Next-generation sequencing identifies the natural killer cell microRNA transcriptome. Genome Res. 2010 Nov;20(11):1590-604. Epub 2010 Oct 8. 2010-11-01
Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. 2010-10-29
Analysis of next-generation genomic data in cancer: accomplishments and challenges. Hum Mol Genet. 2010 Oct 15;19(R2):R188-96. Epub 2010 Sep 15. 2010-10-15
Challenges of sequencing human genomes. Brief Bioinform. 2010 Sep;11(5):484-98. Epub 2010 Jun 2. 2010-09-11
The $1,000 genome, the $100,000 analysis? Genome Med. 2010 Nov 26;2(11):84. 2010-11-26
DNMT3A Mutations in Acute Myeloid Leukemia N Engl J Med. 2010 Nov 10. 2010-11-10
A map of human genome variation from population-scale sequencing Nature. 2010 Oct 28;467(7319):1050-1. 2010-10-28
Convergent evolution of chicken Z and human X chromosomes by expansion and gene acquisition. Nature. 2010 Jul 11. [Epub ahead of print] 2010-07-11
The genomics education partnership: successful integration of research into laboratory classes at a diverse group of undergraduate institutions. CBE Life Sci Educ. 2010 Spring;9(1):55-69. 2010-04-06
Complete Khoisan and Bantu genomes from southern Africa. Nature. 2010 Feb 18;463(7283):943-7. 2010-02-18
Next-generation sequencing of cancer genomes: back to the future. Per Med. 2009 Nov 1;6(6):653. 2009-11-01
The genome of a songbird. Nature. 2010 Apr 1;464(7289):757-62. 2010-04-01
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature. 2010 Apr 15;464(7291):989-90. 2010-04-15
Cancer genomics identifies determinants of tumor biology. Genome Biol. 2010 May 5;11(5):211. [Epub ahead of print] 2010-05-05
Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. Nature. 2010 Jan 28;463(7280):536-9. Epub 2010 Jan 13. 2010-01-13
CMDS: a population-based method for identifying recurrent DNA copy number aberrations in cancer from high-resolution data. Bioinformatics. 2009 Dec 23. [Epub ahead of print] 2009-12-23
Finding the missing heritability of complex diseases. Nature. 2009 Oct 8;461(7265):747-53. Review. 2009-10-08
De novo sequence assembly of a filamentious fungus using Sanger, 454 and Illumina sequence data. Genome Biol. 2009;10(9):R94. Epub 2009 Sep 11 2009-09-11
BreakDancer: an algorithm for high-resolution mapping of genomic structural variation. Nat Methods. 2009 Sep;6(9):677-81. Epub 2009 Aug 9. 2009-09-06
Contribution of genetically restricted, methicillin-susceptible strains to the on-going epidemic of community-acquired Staphylococcus aureus infections. Clin Infect Dis. 2009 Aug 15;49(4):536-42. 2009-08-15
Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci U S A. 2009 Aug 4;106(31):12950-5. Epub 2009 Jul 27. 2009-08-04
Recurring mutations found by sequencing an acute myeloid leukemia genome. N Engl J Med. 2009 Sep 10;361(11):1058-66. Epub 2009 Aug 5. 2009-09-10
Cancer genome sequencing: a review. Hum Mol Genet. 2009 Oct 15;18(R2):R163-8. 2009-10-04
New strategies and emerging technologies for massively parallel sequencing: applications in medical research. Genome Med. 2009 Apr 17;1(4):40. 2009-04-17
Supervised risk predictor of breast cancer based on intrinsic subtypes. J Clin Oncol. 2009 Mar 10;27(8):1153-4. 2009-03-10
A burst of segmental duplications in the genome of the African great ape ancestor. Nature. 2009 Feb 12;457(7231):877-81. 2009-02-12
Large-Scale Sequencing and Analytical Processing of ESTs. Methods Mol Biol. 2009;533:1-35. 2009-01-01
VarScan: Variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 2009 Sep 1;25(17):2283-5. Epub 2009 Jun 19. 2009-06-19
The chromosome 3p21.3-encoded gene, LIMD1, is a critical tumor suppressor involved in human lung cancer development. Proc Natl Acad Sci U S A. 2008 Dec 16;105(50):19932-7. Epub 2008 Dec 5. 2008-12-16
Transcriptome-wide identification of novel imprinted genes in neonatal mouse brain. PLoS ONE. 2008;3(12):e3839. Epub 2008 Dec 4. 2008-12-04
Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites. Genome Res. 2008 Nov 24. [Epub ahead of print] 2008-11-24
DNA sequencing of a cytogenetically normal acute myeloid leukaemia (AML) genome. Nature. 2008 Nov 6;456(7218):66-72. 2008-11-06
Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008 Oct 23;455(7216):1069-75. 2008-10-23
Comprehensive genomic characterization defines human glioblastoma genes and core pathways. Nature. 2008 Oct 23;455(7216):1061-8. Epub 2008 Sep 4. 2008-10-23
Novel MEK1 mutation identified by mutational analysis of epidermal growth factor receptor signaling pathway genes in lung adenocarcinoma. Cancer Res. 2008 Jul 15;68(14):5524-8. 2008-07-14
Conifers have a unique small RNA silencing signature. RNA. 2008 Aug;14(8):1508-15. Epub 2008 Jun 19. 2008-08-01
Next-generation DNA sequencing methods. Annu Rev Genomics Hum Genet. 2008;9:387-402. 2008-06-19
Genome analysis of the platypus reveals unique signatures of evolution. Nature. 2008 May 8;453(7192):175-83. 2008-05-08
Comparative analysis of the small RNA transcriptomes of Pinus contorta and Oryza sativa. Genome Res. 2008 Apr;18(4):571-84. Epub 2008 Mar 6. 2008-04-10
Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia. Blood. 2008 May 1;111(9):4797-808. Epub 2008 Feb 12. 2008-05-01
Identification of somatic JAK1 mutations in patients with acute myeloid leukemia. Blood. 2008 May 1;111(9):4809-12. Epub 2007 Dec 26. 2008-05-01
Whole-genome sequencing and variant discovery in C. elegans. Nat Methods. 2008 Feb;5(2):183-8. Epub 2008 Jan 20. 2008-02-10
The impact of next-generation sequencing technology on genetics. Trends Genet. 2008 Feb 8 [Epub ahead of print] 2008-02-08
Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007 Nov 4; [Epub ahead of print] 2007-11-04
ChIP-seq: welcome to the new frontier. Nat Methods. 2007 Aug;4(8):613-4. 2007-08-04
Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res. 2007 Aug;62(2):170-5. 2007-08-12
Extending assembly of short DNA sequences to handle error. Bioinformatics. 2007 Sep 24; [Epub ahead of print] 2007-09-24
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