Robert Fulton,  McDonnell Genome Institute

Research Accomplishments & Interests

Robert (Bob) Fulton is the Director of Project Development and Management. His role is to deliver genomic solutions to a broad range of clinical and research questions. Bob joined the McDonnell Genome Institute (MGI) in 1994, and he has almost 20 years of extensive experience in the generation of DNA sequence and analysis. Throughout his time at MGI, he has led the production-based targeted sequence efforts as well as the sequence improvement (finishing) pipelines responsible for genome sequence refinement.

The skills and expertise he has developed over the years are now applied to the development of sequence-based strategies designed to answer critical questions associated with the use of genomics in the clinical and research environments. As part of this role, he continues to be a leader in the targeted sequence efforts, which includes variant validation, extension, and de novo discovery activities through targeted sequence techniques.

In addition to this, Mr. Fulton is still actively involved in sequence improvement activities. MGI continues to play a significant role in the improvement of the human and mouse genomes. Mr. Fulton is a major leader in the Genome Reference Consortium and MGI maintains one of the only labs in the country dedicated to this effort. He was also a key contributor to the maize genome and many of the primate genome projects.

Mr. Fulton has a B.S. degree with a specialization in Genetic Engineering as well as an M.S., both from Southern Illinois University, Edwardsville.

Publications

title citation publication date
Mutational landscape and response are conserved in peripheral blood of AML and MDS patients during decitabine therapy. Blood. 2017 Mar 9;129(10):1397-1401. doi: 10.1182/blood-2016-10-745273. Epub 2017 Jan 12.
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 2017 Apr 10. doi: 10.1101/gr.213611.116. 2017-04-10
CpG Island Hypermethylation Mediated by DNMT3A Is a Consequence of AML Progression. Cell. 2017 Feb 23;168(5):801-816.e13. doi: 10.1016/j.cell.2017.01.021. Epub 2017 Feb 16. 2017-02-23
TP53 and Decitabine in Acute Myeloid Leukemia and Myelodysplastic Syndromes. N Engl J Med. 2016 Nov 24;375(21):2023-2036. 1970-08-22
Integrated genomic characterization of oesophageal carcinoma. Nature. 2017 Jan 12;541(7636):169-175. doi: 10.1038/nature20805. Epub 2017 Jan 4. 1970-08-22
Mutant U2AF1-expressing cells are sensitive to pharmacological modulation of the spliceosome. Nat Commun. 2017 Jan 9;8:14060. doi: 10.1038/ncomms14060 1970-08-22
Integrated genomic and molecular characterization of cervical cancer. Nature. 2017 Jan 23. doi: 10.1038/nature21386. [Epub ahead of print] 1970-08-22
Recurrent somatic mutations affecting B-cell receptor signaling pathway genes in follicular lymphoma. Blood. 2017 Jan 26;129(4):473-483. doi: 10.1182/blood-2016-07-729954. Epub 2016 Nov 14. 1970-08-22
Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases PLoS Med. 2016 Dec 6;13(12):e1002174. doi: 10.1371/journal.pmed.1002174. eCollection 2016. 1970-08-22
The role of rare protein-coding variants to anti-TNF treatment response in rheumatoid arthritis. Arthritis Rheumatol. 2016 Oct 27. doi: 10.1002/art.39966. [Epub ahead of print] 2016-10-24
Dynamic changes in the clonal structure of MDS and AML in response to epigenetic therapy. Leukemia. 2016 Oct 14. doi: 10.1038/leu.2016.282. [Epub ahead of print] 2016-10-24
North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene Mol Vis. 2016 Oct 17;22:1239-1247. eCollection 2016. 2016-10-17
Deregulation of DUX4 and ERG in acute lymphoblastic leukemia. Nat Genet. 2016 Oct 24. doi: 10.1038/ng.3691. [Epub ahead of print] 1970-08-22
The genomic landscape of core-binding factor acute myeloid leukemias Nat Genet. 2016 Oct 31. doi: 10.1038/ng.3709. [Epub ahead of print] 1970-08-22
Molecular and histologic characteristics of pseudoprogression in diffuse gliomas. J Neurooncol. 2016 Oct 4. [Epub ahead of print] 1970-08-22
DoCM: a database of curated mutations in cancer. Nat Methods. 2016 Sep 29;13(10):806-7. doi: 10.1038/nmeth.4000. 1970-08-22
Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome Leukemia. 2016 Aug 30. doi: 10.1038/leu.2016.247. [Epub ahead of print] 1970-08-22
ATRX in diffuse gliomas with its mosaic/heterogeneous expression in a subset Brain Pathol. 2016 Feb 2. doi: 10.1111/bpa.12364. [Epub ahead of print] 2016-02-02
Comprehensive genomic analysis reveals FLT3 activation and a therapeutic strategy for a patient with relapsed adult B-lymphoblastic leukemia Exp Hematol. 2016 Jul;44(7):603-13. doi: 10.1016/j.exphem.2016.04.011. Epub 2016 May 13 2016-07-01
Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African-Americans Cancer Epidemiol Biomarkers Prev. 2016 Aug 2. pii: cebp.0373.2016. [Epub ahead of print] 2016-08-02
Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia. J Clin Oncol. 2016 Jun 20;34(18):2133-40. doi: 10.1200/JCO.2015.64.5812. Epub 2016 Apr 25. 2016-06-20
PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation. Pharmacogenet Genomics. 2016 Jan 5. [Epub ahead of print] 2016-01-05
Patterns and functional implications of rare germline variants across 12 cancer types. Nat Commun. 2015 Dec 22;6:10086. doi: 10.1038/ncomms10086. 2015-12-15
Genetic risk factors for the development of osteonecrosis in children under age 10 treated for acute lymphoblastic leukemia. Blood. 2015 Nov 20. pii: blood-2015-10-673848. [Epub ahead of print] 2015-11-20
Optimizing cancer genome sequencing and analysis. Cell Syst. 2015 Sep 23;1(3):210-223. 2015-09-23
INTEGRATE: gene fusion discovery using whole genome and transcriptome data. Genome Res. 2015 Nov 10. [Epub ahead of print] 2015-11-10
Rapid expansion of pre-existing non-leukemic hematopoietic clones frequently follows induction therapy for de novo AML. Blood. 2015 Dec 2. pii: blood-2015-10-677021. [Epub ahead of print] 2015-12-02
Genomic analysis of germline and somatic variants in familial myelodysplasia/acute myeloid leukemia. Blood. 2015 Oct 22. pii: blood-2015-04-641100. [Epub ahead of print] 2015-10-22
Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol. 2016;854:193-200. doi: 10.1007/978-3-319-17121-0_26. 2015-01-01
A global reference for human genetic variation. Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393. 2015-10-01
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families Clin Genet. 2016 Jul; 90(1):28-34. doi: 10.1111/cge.12675. [Epub ahead of print] 2016-07-01
Association Between Mutation Clearance After Induction Therapy and Outcomes in Acute Myeloid Leukemia. JAMA. 2015 Aug 25;314(8):811-22. doi: 10.1001/jama.2015.9643. 2015-08-25
Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children. Nat Commun. 2015 Jun 24;6:7553. doi: 10.1038/ncomms8553. 2015-06-24
Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo. Cancer Cell. 2015 May 11;27(5):631-43. doi: 10.1016/j.ccell.2015.04.008. 2015-05-11
TYK2 Protein-Coding Variants Protect against Rheumatoid Arthritis and Autoimmunity, with No Evidence of Major Pleiotropic Effects on Non-Autoimmune Complex Traits. PLoS One. 2015 Apr 7;10(4):e0122271. doi: 10.1371/journal.pone.0122271. eCollection 2015. 2015-04-07
Genetic heterogeneity of induced pluripotent stem cells: results from 24 clones derived from a single C57BL/6 mouse. PLoS One. 2015 Mar 23;10(3):e0120585. doi: 10.1371/journal.pone.0120585. eCollection 2015. 2015-03-23
Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci. Am J Hum Genet. 2015 Mar 5;96(3):397-411. doi: 10.1016/j.ajhg.2015.01.004. Epub 2015 Feb 19. 2015-03-05
Epigenomic analysis of the HOX gene loci reveals mechanisms that may control canonical expression patterns in AML and normal hematopoietic cells. Leukemia. 2015 Jan 20. doi: 10.1038/leu.2015.6. [Epub ahead of print] 2015-02-17
Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia. Nature. 2014 Dec 8. doi: 10.1038/nature13968. [Epub ahead of print] 2014-12-08
Single haplotype assembly of the human genome from a hydatidiform mole. Genome Res. 2014 Dec;24(12):2066-76. doi: 10.1101/gr.180893.114. Epub 2014 Nov 4. 2014-12-01
Caspase 9 is required for normal hematopoietic development and protection from alkylator-induced DNA damage in mice. Blood. 2014 Oct 27. pii: blood-2014-06-582551. [Epub ahead of print] 2014-10-27
Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia. Leukemia. 2014 Sep 25. doi: 10.1038/leu.2014.289. [Epub ahead of print] 2014-09-24
A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2014 Sep 4. pii: IOVS-14-15419. doi: 10.1167/iovs.14-15419. [Epub ahead of print] 2014-09-04
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
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 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
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 R882H DNMT3A mutation associated with AML dominantly inhibits wild-type DNMT3A by blocking its ability to form active tetramers. Cancer Cell. 2014 Apr 14;25(4):442-54. doi: 10.1016/j.ccr.2014.02.010. Epub 2014 Mar 20 2014-04-14
Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators. Nature. 2014 Apr 24;508(7497):494-9. doi: 10.1038/nature13206. 2014-04-24
Application of Next-Generation Sequencing to Identify Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol. 2014;801:123-9. doi: 10.1007/978-1-4614-3209-8_16. 2014-04-01
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
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
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
Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci. PLoS Genet. 2014 Jan 30;10(1):e1004147. doi: 10.1371/journal.pgen.1004147. eCollection 2014. 2014-01-30
Integrated analysis of germline and somatic variants in ovarian cancer. Nat Commun. 2014 Jan 22;5:3156. doi: 10.1038/ncomms4156. 2014-01-22
Genomics. Genome project standards in a new era of sequencing. Science. 2009 Oct 9;326(5950):236-7. doi: 10.1126/science.1180614. 2009-10-09
The DNA double-strand break response is abnormal in myeloblasts from patients with therapy-related acute myeloid leukemia. Leukemia. 2013 Dec 5. doi: 10.1038/leu.2013.368. [Epub ahead of print] 2013-12-05
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
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
The human genome: genes, pseudogenes, and variation on chromosome 7. Cold Spring Harb Symp Quant Biol. 2003;68:13-22. 2003-01-01
Oil palm genome sequence reveals divergence of interfertile species in Old and New worlds. Nature. 2013 Jul 24. doi: 10.1038/nature12309. [Epub ahead of print] 2013-07-24
Toward sequencing the sorghum genome. A U.S. National Science Foundation-sponsored workshop report. Plant Physiol. 2005 Aug;138(4):1898-902. 2005-08-01
Sequence and analysis of chromosome 4 of the plant Arabidopsis thaliana. Nature. 1999 Dec 16;402(6763):769-77. 1998-12-16
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
Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26. 2009-05-05
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
Somatic neurofibromatosis type 1 (NF1) inactivation characterizes NF1-associated pilocytic astrocytoma. Genome Res. 2012 Dec 5. [Epub ahead of print] 2012-12-05
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
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
De novo gene disruptions in children on the autistic spectrum. Neuron. 2012 Apr 26;74(2):285-99. 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
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012 Feb 22. doi: 10.1038/nature10843. [Epub ahead of print] 2012-02-22
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
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 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
Evolution of symbiotic bacteria in the distal human intestine. PLoS Biol. 2007 Jul;5(7):e156. Epub 2007 Jun 19. 2007-06-19
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
A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet. 2011 Jun 8. doi: 10.1038/ejhg.2011.86. [Epub ahead of print] 2011-06-08
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
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
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
Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing. Invest Ophthalmol Vis Sci. 2010 Sep 22. [Epub ahead of print] 2010-09-22
Diversity of human copy number variation and multicopy genes. Science. 2010 Oct 29;330(6004):641-6. 2010-10-29
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell. 2010 Nov 24;143(5):837-47. 2010-11-24
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
Characterization of missing human genome sequences and copy-number polymorphic insertions. Nat Methods. 2010 May;7(5):365-71. 2010-05-01
Genome sequence of Cronobacter sakazakii BAA-894 and comparative genomic hybridization analysis with other Cronobacter species. PLoS One. 2010 Mar 8;5(3):e9556. 2010-03-08
A Catalog of Reference Genomes from the Human Microbiome. Science. 2010 May 21;328(5981):994-999. 2010-05-21
Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature. 2010 Apr 15;464(7291):989-90. 2010-04-15
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
Detailed analysis of a contiguous 22-Mb region of the maize genome. PLoS Genet. 2009 Nov;5(11):e1000728. Epub 2009 Nov 20. 2009-11-20
The physical and genetic framework of the maize B73 genome. PLoS Genet. 2009 Nov;5(11):e1000715. Epub 2009 Nov 20. 2009-11-20
The B73 maize genome: complexity, diversity, and dynamics. Science. 2009 Nov 20;326(5956):1112-5. 2009-11-20
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
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
Characterizing a model human gut microbiota composed of members of its two dominant bacterial phyla. Proc Natl Acad Sci U S A. 2009 Apr 7;106(14):5859-64. Epub 2009 Mar 24. 2009-03-24
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
Haplotype sorting using human fosmid clone end-sequence pairs. Genome Res. 2008 Oct 6. [Epub ahead of print] 2008-10-06
The Pristionchus pacificus genome provides a unique perspective on nematode lifestyle and parasitism. Nat Genet. 2008 Oct;40(10):1193-8. Epub 2008 Sep 21. 2008-10-01
The genome of Cyanothece 51142, a unicellular diazotrophic cyanobacterium important in the marine nitrogen cycle. Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15094-9. Epub 2008 Sep 23. 2008-09-30
Platypus globin genes and flanking loci suggest a new insertional model for beta-globin evolution in birds and mammals. BMC Biol. 2008 Jul 25;6:34. 2008-07-25
Genome analysis of the platypus reveals unique signatures of evolution. Nature. 2008 May 8;453(7192):175-83. 2008-05-08
Evolution of genes and genomes on the Drosophila phylogeny. Nature. 2007 Nov 8;450(7167):203-218. 2007-11-08
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature. 2007 Jun 14;447(7146):799-816. 2007-06-14
Genomic and metabolic adaptations of Methanobrevibacter smithii to the human gut. Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10643-8. Epub 2007 Jun 11. 2007-06-19
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res. 2007 Jun;17(6):760-74. 2007-06-17
Identification of genes subject to positive selection in uropathogenic strains of Escherichia coli: a comparative genomics approach. Proc Natl Acad Sci U S A. 2006 Apr 11;103(15):5977-82. Epub 2006 Apr 3. 2006-04-11
The complete genome sequence of a chronic atrophic gastritis Helicobacter pylori strain: evolution during disease progression. Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):9999-10004. Epub 2006 Jun 20.Click here to read 2006-06-27
The DNA sequence of the human X chromosome. Nature. 2005 Mar 17;434(7031):325-37. 2005-03-17
After the duplication: gene loss and adaptation in Saccharomyces genomes. Genetics. 2006 Feb;172(2):863-72. Epub 2005 Dec 1. 2006-02-17
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. Nature. 2005 Apr 7;434(7034):724-31. 2005-04-07
Comparative genomic sequence analysis of the human and mouse cystic fibrosis transmembrane conductance regulator genes. Proc Natl Acad Sci U S A. 2000 Feb 1;97(3):1172-7. 2000-02-01
The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003 Jun 19;423(6942):825-37. 2003-06-19
The Genome Sequence of Caenorhabditis briggsae: A Platform for Comparative Genomics. PLoS Biol. 2003 Nov;1(2):E45. Epub 2003 Nov 17. 2003-11-01
Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 Dec 5;420(6915):520-62. 2002-12-05
Initial sequencing and analysis of the human genome. Nature. 2001 Feb 15;409(6822):860-921. 2001-02-15
Finding functional features in Saccharomyces genomes by phylogenetic footprinting. Science. 2003 Jul 4;301(5629):71-6. Epub 2003 May 29. 2003-06-04
The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. 2003-07-10
Genome sequence of the nematode C. elegans: a platform for investigating biology. The C. elegans Sequencing Consortium. Science. 1998 Dec 11;282(5396):2012-8. Review. Erratum in: Science 1999 Jan 1;283(5398):35. Science 1999 Mar 26;283(5410):2103. Science 1999 Sep 3;285(5433):1493. 1998-12-10
Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution Nature. 2004 Dec 9;432(7018):695-716. 2004-12-10
Finishing the euchromatic sequence of the human genome Nature. 2004 Oct 21;431(7011):931-45. 2004-10-21
A physical map of the human genome. Nature. 2001 Feb 15;409(6822):934-41. 2001-02-15