Research Topics
Genomes and GenesSpecies | K H BuetowSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Gene functional similarity search tool (GFSST)Peisen Zhang
Laboratory of Population Genetics, National Cancer Institute, NIH, Bethesda, USA
BMC Bioinformatics 7:135. 2006..In recent years, the development of Gene Ontology (GO) has established structured, controlled vocabularies describing gene functions, which makes it possible to develop novel tools to search genes by functional similarity...
Reliable identification of large numbers of candidate SNPs from public EST dataK H Buetow
Laboratory of Population Genetics, NCI, NIH, Bethesda, Maryland 20892, USA
Nat Genet 21:323-5. 1999..Our results suggest that existing sequence resources may serve as a valuable source for identifying genetic variation...
Cyberinfrastructure: empowering a "third way" in biomedical researchKenneth H Buetow
National Cancer Institute Center for Bioinformatics, National Institutes of Health, Rockville, MD 20892, USA
Science 308:821-4. 2005..Biomedicine is at the precipice of unlocking the very essence of biologic life and enabling a new generation of medicine. Development and deployment of cyberinfrastructure may prove to be on the critical path to obtaining these goals...
The NCI Center for Bioinformatics (NCICB): building a foundation for in silico biomedical researchKenneth H Buetow
National Cancer Institute, Center for Bioinformatics, 6116 Executive Blvd, Bethesda, MD 20892-9692, USA
Cancer Invest 22:117-22. 2004
An infrastructure for interconnecting research institutionsKenneth H Buetow
Center for Bioinformatics and Information Technology, National Cancer Institute, Rockville, MD 20852, USA
Drug Discov Today 14:605-10. 2009..cancer.gov/) from the National Cancer Institute (NCI) is already enabling many research organizations to implement personalized medicine approaches for their basic and clinical research programs...
High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometryK H Buetow
Laboratory of Population Genetics, Division of Cancer Epidemiology and Genetics, and Office of Genomics, National Cancer Institute, Bethesda, MD 20892 5060, USA
Proc Natl Acad Sci U S A 98:581-4. 2001..These data provide preliminary insights into patterns of polymorphism in a genomewide collection of gene-based polymorphisms...
In silico analysis of cancer through the Cancer Genome Anatomy ProjectR L Strausberg
National Cancer Institute, Bethesda, MD 20892, USA
Trends Cell Biol 11:S66-71. 2001....
A high-resolution multistrain haplotype analysis of laboratory mouse genome reveals three distinctive genetic variation patternsJinghui Zhang
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892-8302, USA
Genome Res 15:241-9. 2005..The results suggest that the controlled complexity of the laboratory inbred strains may provide a means for uncovering the biological factors that have shaped genetic variation patterns...
Genotypic and phenotypic characterization of a putative tumor susceptibility gene, GNMT, in liver cancerTzu Ling Tseng
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Cancer Res 63:647-54. 2003..In summary, our results suggest that GNMT alteration may be an early event in HCC development and that GNMT could be a new tumor susceptibility gene for HCC...
Genome-wide association study in esophageal cancer using GeneChip mapping 10K arrayNan Hu
Cancer Prevention Studies Branch, Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892, USA
Cancer Res 65:2542-6. 2005..In conclusion, we have shown the feasibility of the Affymetrix 10K SNP array in genome-wide association studies of common cancers and identified new candidate loci to study in ESCC...
Computational analysis and experimental validation of tumor-associated alternative RNA splicing in human cancerZhining Wang
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Gaithersburg, Maryland 20877, USA
Cancer Res 63:655-7. 2003..Reverse transcription-PCR experiments confirmed association of the alternative splicing isoforms with tumors. These results suggest that alternative splicing may have potential as a diagnostic marker for cancer...
Allelic variation in gene expression is common in the human genomeH Shuen Lo
Laboratory of Population Genetics, National Cancer Institute, Bethesda, Maryland 20892, USA
Genome Res 13:1855-62. 2003..Our studies demonstrate that variation of gene expression between alleles is common, and this variation may contribute to human variability...
Large-scale analysis of non-synonymous coding region single nucleotide polymorphismsRobert J Clifford
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Bioinformatics 20:1006-14. 2004..We provide internet-accessible display tools for a genomewide collection of SNPs, including 7391 distinct non-synonymous coding region SNPs in 2683 genes. AVAILABILITY: http://lpgws.nci.nih.gov/cgi-bin/GeneViewer.cgi..
Detecting false expression signals in high-density oligonucleotide arrays by an in silico approachJinghui Zhang
Laboratory of Population Genetics, National Cancer Institute National Institutes of Health, 8424 Helgerman Court, Room 101, MSC 8302, Bethesda, MD 20892 8302, USA
Genomics 85:297-308. 2005..A Web application was developed to apply our results for improving the accuracy of expression analysis...
Hemochromatosis gene mutations and distal adenomatous colorectal polypsKatherine A McGlynn
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Department of Health and Human Services, EPS 7060, 6120 Executive Boulevard, Rockville, MD 20852 7234, USA
Cancer Epidemiol Biomarkers Prev 14:158-63. 2005..These results do not support a relationship between HFE heterozygosity and risk of advanced distal adenoma...
SNPdetector: a software tool for sensitive and accurate SNP detectionJinghui Zhang
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Comput Biol 1:e53. 2005..SNPdetector runs on Unix/Linux platform and is available publicly (http://lpg.nci.nih.gov)...
Genome-wide loss of heterozygosity and copy number alteration in esophageal squamous cell carcinoma using the Affymetrix GeneChip Mapping 10 K arrayNan Hu
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, NCI, USA
BMC Genomics 7:299. 2006..Esophageal squamous cell carcinoma (ESCC) is a common malignancy worldwide. Comprehensive genomic characterization of ESCC will further our understanding of the carcinogenesis process in this disease...
Bambino: a variant detector and alignment viewer for next-generation sequencing data in the SAM/BAM formatMichael N Edmonson
National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Bioinformatics 27:865-6. 2011..nci.nih.gov/goldenPath/bamview/documentation/index.html, along with documentation and example data. Bambino may be launched online via Java Web Start or downloaded and run locally...
Systematic analysis of genetic alterations in tumors using Cancer Genome WorkBench (CGWB)Jinghui Zhang
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 17:1111-7. 2007....
Superposition of transcriptional behaviors determines gene stateSol Efroni
Center for Biomedical Informatics and Information Technology, National Cancer Institute, National Institutes of Health, Rockville, Maryland, United States of America
PLoS ONE 3:e2901. 2008..The technique can be applied in almost any multi-sample gene expression experiment, and holds equal promise for protein abundance experiments...
PID: the Pathway Interaction DatabaseCarl F Schaefer
National Cancer Institute, Center for Biomedical Informatics and Information Technology, Rockville MD, USA
Nucleic Acids Res 37:D674-9. 2009..The database is updated with new pathway content every month and supplemented by specially commissioned articles on the practical uses of other relevant online tools...
Genetic variations at loci involved in the immune response are risk factors for hepatocellular carcinomaRobert J Clifford
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Hepatology 52:2034-43. 2010..Conclusion: Combined analysis of CNV, individual SNPs, and pathways suggest that HCC susceptibility is mediated by germline factors affecting the immune response and differences in T-cell receptor processing...
Bioinformatics tools for single nucleotide polymorphism discovery and analysisRobert J Clifford
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD 20892, USA
Ann N Y Acad Sci 1020:101-9. 2004..These tools allow researchers to retrieve data about SNPs based on gene of interest, genetic or physical map location, or expression pattern...
Interlaboratory comparability study of cancer gene expression analysis using oligonucleotide microarraysKevin K Dobbin
Cancer Diagnosis Program, National Cancer Institute NIH, Bethesda, MD 20894, USA
Clin Cancer Res 11:565-72. 2005..The findings indicate that under properly controlled conditions it is feasible to perform complete tumor microarray analysis, from tissue processing to hybridization and scanning, at multiple independent laboratories for a single study...
The cancer genome anatomy project: online resources to reveal the molecular signatures of cancerRobert L Strausberg
National Cancer Institute, Bethesda, MD 20892, USA
Cancer Invest 20:1038-50. 2002
Cancer Molecular Analysis Project: weaving a rich cancer research tapestryKenneth H Buetow
National Cancer Institute, National Institutes of Health, Bethesda, MD 20892, USA
Cancer Cell 1:315-8. 2002....
caCORE: a common infrastructure for cancer informaticsPeter A Covitz
National Cancer Institute Center for Bioinformatics, National Institutes of Health, U S Department of Health and Human Services, 6116 Executive Boulevard, Suite 403, Rockville MD 20852, USA
Bioinformatics 19:2404-12. 2003..Confronted with these challenges at the National Cancer Institute Center for Bioinformatics, we decided to develop a robust infrastructure for data management and integration that supports advanced biomedical applications...
Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populationsJinghui Zhang
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892 8302, USA
Am J Hum Genet 73:1073-81. 2003....
A phylogenetic analysis identifies heterogeneity among hepatocellular carcinomasKatherine A McGlynn
Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA
Hepatology 36:1341-8. 2002..In conclusion, it appears that in HCC, allele loss is not random, but clusters into definable groups that are characterized by distinctive rates of loss...
A genome scan of 18 families with chronic lymphocytic leukaemiaLynn R Goldin
Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute NIH, 6120 Executive Boulevard, Room 7008, MSC 7236, Bethesda, MD 20892 7236, USA
Br J Haematol 121:866-73. 2003..Four of these six regions (6q, 13q, 12 and 17p) coincide with areas where cytogenetic abnormalities are frequently observed in CLL tumour cells and are, therefore, strong candidate regions for containing germ line changes...
HapScope: a software system for automated and visual analysis of functionally annotated haplotypesJinghui Zhang
Laboratory of Population Genetics, National Cancer Institute National Institutes of Health, 8424 Helgerman Court, Room 101, MSC 8302, Bethesda, MD 20892 8302, USA
Nucleic Acids Res 30:5213-21. 2002..We envision that the systematic approach of integrating functional genomic analysis with population haplotypes, supported by HapScope, will greatly facilitate current genetic disease research...
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequencesRobert L Strausberg
National Cancer Institute, Bethessda, MD 20892 2580, USA
Proc Natl Acad Sci U S A 99:16899-903. 2002..All MGC sequences and clones are available without restriction through public databases and clone distribution networks (see http:mgc.nci.nih.gov)...
A computational approach to measuring coherence of gene expression in pathwaysHoward H Yang
Laboratory of Population Genetics, National Cancer Institute, 41 Library Drive, Bethesda, MD 20892, USA
Genomics 84:211-7. 2004....
Global transcription in pluripotent embryonic stem cellsSol Efroni
National Cancer Institute Center for Bioinformatics, National Institutes of Health, Rockville, MD 20852, USA
Cell Stem Cell 2:437-47. 2008..We propose that global transcription is a hallmark of pluripotent ESCs, contributing to their plasticity, and that lineage specification is driven by reduction of the transcribed portion of the genome...
An international database and integrated analysis tools for the study of cancer gene expressionR L Strausberg
National Cancer Institute, Bethesda, MD 20892, USA
Pharmacogenomics J 2:156-64. 2002..A suite of informatics tools was designed to facilitate in silico analysis of the gene expression datasets and are available through the NCI Cancer Genome Anatomy Project web site (http://cgap.nci.nih.gov)...
Multiple cross and inbred strain haplotype mapping of complex-trait candidate genesYeong-Gwon Park
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 13:118-21. 2003....
Susceptibility to aflatoxin B1-related primary hepatocellular carcinoma in mice and humansKatherine A McGlynn
Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH DHHS, 6120 Executive Boulevard, Bethesda, MD 20892, USA
Cancer Res 63:4594-601. 2003..These results indicate that the comparison of results from human studies and the AFB(1)-susceptible mouse model may provide new insights into hepatocarcinogenesis...
Allele-specific chromatin immunoprecipitation studies show genetic influence on chromatin state in human genomeMitsutaka Kadota
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, United States of America
PLoS Genet 3:e81. 2007..To our knowledge, this is the first demonstration in humans that genetics may be an important factor that influences global chromatin state mediated by histone modification, the hallmark of the epigenetic phenomena...
Identification of key processes underlying cancer phenotypes using biologic pathway analysisSol Efroni
National Cancer Institute Center for Bioinformatics, Rockville, Maryland, United States of America
PLoS ONE 2:e425. 2007..This approach provides a means to use genome-wide characterizations to map key biological processes to important clinical features in disease...
AACR-FDA-NCI Cancer Biomarkers Collaborative consensus report: advancing the use of biomarkers in cancer drug developmentSamir N Khleif
National Cancer Institute, Raritan, New Jersey, USA
Clin Cancer Res 16:3299-318. 2010....
Comparative sequence analysis of imprinted genes between human and mouse to reveal imprinting signaturesZhining Wang
Laboratory of Population Genetics, National Cancer Institute, Bethesda, MD 20892, USA
Genomics 83:395-401. 2004..The motifs identified in this study are novel imprinting signatures, which should improve our understanding of genomic imprinting and the role of genomic imprinting in human diseases...
ATG deserts define a novel core promoter subclassMaxwell P Lee
Laboratory of Population Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Genome Res 15:1189-97. 2005..We speculate that ATG deserts may provide a core promoter platform upon which complex upstream regulatory signals can be integrated, targeting multiple TSS whose products encode a single protein...
Genetic susceptibility and dietary patterns in lung cancerYa Yu Tsai
Laboratory of Population Genetics, Center for Cancer Research, National Cancer Institute, NIH, DHHS, Bethesda, MD, USA
Lung Cancer 41:269-81. 2003..Adjustments using dietary pattern may be useful in elucidating the effects of polymorphisms in genes responsible for carcinogen metabolism...
Significance of genetic variation at the glutathione S-transferase M1 and NAD(P)H:quinone oxidoreductase 1 detoxification genes in breast cancer developmentNava Siegelmann-Danieli
Division of Population Science, Fox Chase Center, Philadelphia, PA, USA
Oncology 62:39-45. 2002..NQO1 results suggest that different quinones (possibly estrogenic quinone metabolites) might affect the histological development of breast tumors...
Comprehensive genomic characterization defines human glioblastoma genes and core pathwaysRoger McLendon
Nature 455:1061-8. 2008..Together, these findings establish the feasibility and power of TCGA, demonstrating that it can rapidly expand knowledge of the molecular basis of cancer...
An anatomy of normal and malignant gene expressionKathy Boon
Duke University Medical Center, Durham, NC 27710, USA
Proc Natl Acad Sci U S A 99:11287-92. 2002..We report here an easily accessible view of nearly any gene's expression in a wide variety of malignant and normal tissues...
Long-range heterogeneity at the 3' ends of human mRNAsChristian Iseli
Office of Information Technology, Ludwig Institute for Cancer Research, Switzerland
Genome Res 12:1068-74. 2002....
