human genome

Summary

Summary: The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.

Top Publications

  1. pmc Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    Ben Langmead
    Center for Bioinformatics and Computational Biology, Institute for Advanced Computer Studies, University of Maryland, College Park, MD 20742, USA
    Genome Biol 10:R25. 2009
  2. pmc A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
  3. pmc The human genome browser at UCSC
    W James Kent
    Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Cruz, CA 95064, USA
    Genome Res 12:996-1006. 2002
  4. ncbi Initial sequencing and analysis of the human genome
    E S Lander
    Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, Massachusetts 02142, USA
    Nature 409:860-921. 2001
  5. pmc PLINK: a tool set for whole-genome association and population-based linkage analyses
    Shaun Purcell
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 81:559-75. 2007
  6. pmc Comprehensive mapping of long-range interactions reveals folding principles of the human genome
    Erez Lieberman-Aiden
    Broad Institute of Harvard and Massachusetts Institute of Technology MIT, MA 02139, USA
    Science 326:289-93. 2009
  7. pmc A census of human cancer genes
    P Andrew Futreal
    Cancer Genome Project, Human Genome Analysis Group and Pfam Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambs, CB10 1SA, UK
    Nat Rev Cancer 4:177-83. 2004
  8. pmc Origins and functional impact of copy number variation in the human genome
    Donald F Conrad
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA UK
    Nature 464:704-12. 2010
  9. ncbi High-resolution profiling of histone methylations in the human genome
    Artem Barski
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA
    Cell 129:823-37. 2007
  10. ncbi Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
    Nathaniel D Heintzman
    Ludwig Institute for Cancer Research, University of California San Diego UCSD School of Medicine, 9500 Gilman Drive, La Jolla, California 92093 0653 USA
    Nat Genet 39:311-8. 2007

Detail Information

Publications293 found, 100 shown here

  1. pmc Ultrafast and memory-efficient alignment of short DNA sequences to the human genome
    Ben Langmead
    Center for Bioinformatics and Computational Biology, Institute for Advanced Computer Studies, University of Maryland, College Park, MD 20742, USA
    Genome Biol 10:R25. 2009
    ..For the human genome, Burrows-Wheeler indexing allows Bowtie to align more than 25 million reads per CPU hour with a memory ..
  2. pmc A map of human genome variation from population-scale sequencing
    Richard M Durbin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK
    Nature 467:1061-73. 2010
    The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype...
  3. pmc The human genome browser at UCSC
    W James Kent
    Department of Molecular, Cellular, and Developmental Biology, University of California, Santa Cruz, CA 95064, USA
    Genome Res 12:996-1006. 2002
    ..The conceptual and technical framework of the browser, its underlying MYSQL database, and overall use are described. The web site currently serves over 50,000 pages per day to over 3000 different users...
  4. ncbi Initial sequencing and analysis of the human genome
    E S Lander
    Whitehead Institute for Biomedical Research, Center for Genome Research, Cambridge, Massachusetts 02142, USA
    Nature 409:860-921. 2001
    The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution...
  5. pmc PLINK: a tool set for whole-genome association and population-based linkage analyses
    Shaun Purcell
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114, USA
    Am J Hum Genet 81:559-75. 2007
    ..Analysis of the patterns of segmental sharing has the potential to map disease loci that contain multiple rare variants in a population-based linkage analysis...
  6. pmc Comprehensive mapping of long-range interactions reveals folding principles of the human genome
    Erez Lieberman-Aiden
    Broad Institute of Harvard and Massachusetts Institute of Technology MIT, MA 02139, USA
    Science 326:289-93. 2009
    ..We constructed spatial proximity maps of the human genome with Hi-C at a resolution of 1 megabase...
  7. pmc A census of human cancer genes
    P Andrew Futreal
    Cancer Genome Project, Human Genome Analysis Group and Pfam Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton Cambs, CB10 1SA, UK
    Nat Rev Cancer 4:177-83. 2004
  8. pmc Origins and functional impact of copy number variation in the human genome
    Donald F Conrad
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA UK
    Nature 464:704-12. 2010
    ....
  9. ncbi High-resolution profiling of histone methylations in the human genome
    Artem Barski
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, NIH, Bethesda, MD 20892, USA
    Cell 129:823-37. 2007
    ..Z, RNA polymerase II, and the insulator binding protein CTCF across the human genome using the Solexa 1G sequencing technology...
  10. ncbi Distinct and predictive chromatin signatures of transcriptional promoters and enhancers in the human genome
    Nathaniel D Heintzman
    Ludwig Institute for Cancer Research, University of California San Diego UCSD School of Medicine, 9500 Gilman Drive, La Jolla, California 92093 0653 USA
    Nat Genet 39:311-8. 2007
    ..We determined the chromatin modification states in high resolution along 30 Mb of the human genome and found that active promoters are marked by trimethylation of Lys4 of histone H3 (H3K4), whereas enhancers ..
  11. pmc Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
    Ewan Birney
    Nature 447:799-816. 2007
    ..generation and analysis of functional data from multiple, diverse experiments performed on a targeted 1% of the human genome as part of the pilot phase of the ENCODE Project...
  12. pmc PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    Kai Wang
    Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Genome Res 17:1665-74. 2007
    ..3%. Our results demonstrate the feasibility of whole-genome fine-mapping of CNVs via high-density SNP genotyping...
  13. ncbi RNA maps reveal new RNA classes and a possible function for pervasive transcription
    Philipp Kapranov
    Affymetrix Laboratory, Affymetrix, Inc, 3420 Central Expressway, Santa Clara, CA, 95051, USA
    Science 316:1484-8. 2007
    ..These data support a highly interleaved organization of the human transcriptome...
  14. ncbi Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays
    Radoje Drmanac
    Complete Genomics, Inc, 2071 Stierlin Court, Mountain View, CA 94043, USA
    Science 327:78-81. 2010
    ..The high accuracy, affordable cost of $4400 for sequencing consumables, and scalability of this platform enable complete human genome sequencing for the detection of rare variants in large-scale genetic studies.
  15. ncbi The protein kinase complement of the human genome
    G Manning
    SUGEN Inc, 230 East Grand Avenue, South San Francisco, CA 94080, USA
    Science 298:1912-34. 2002
    We have catalogued the protein kinase complement of the human genome (the "kinome") using public and proprietary genomic, complementary DNA, and expressed sequence tag (EST) sequences...
  16. pmc Patterns of somatic mutation in human cancer genomes
    Christopher Greenman
    Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 446:153-8. 2007
    Cancers arise owing to mutations in a subset of genes that confer growth advantage. The availability of the human genome sequence led us to propose that systematic resequencing of cancer genomes for mutations would lead to the discovery ..
  17. ncbi Detecting recent positive selection in the human genome from haplotype structure
    Pardis C Sabeti
    Whitehead Institute MIT Center for Genome Research, Nine Cambridge Center, Cambridge, Massachusetts 02142, USA
    Nature 419:832-7. 2002
    ..More generally, the method could be used to scan the entire genome for evidence of recent positive selection...
  18. pmc Accurate whole human genome sequencing using reversible terminator chemistry
    David R Bentley
    Illumina Cambridge Ltd Formerly Solexa Ltd, Chesterford Research Park, Little Chesterford, Nr Saffron Walden, Essex CB10 1XL, UK
    Nature 456:53-9. 2008
    ..We demonstrate application of this approach to human genome sequencing on flow-sorted X chromosomes and then scale the approach to determine the genome sequence of a male ..
  19. ncbi The genomic landscapes of human breast and colorectal cancers
    Laura D Wood
    Ludwig Center for Cancer Genetics and Therapeutics and Howard Hughes Medical Institute at Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
    Science 318:1108-13. 2007
    ..These results have implications for understanding the nature and heterogeneity of human cancers and for using personal genomics for tumor diagnosis and therapy...
  20. ncbi Initial sequencing and comparative analysis of the mouse genome
    Robert H Waterston
    Genome Sequencing Center, Washington University School of Medicine, Campus Box 8501, 4444 Forest Park Avenue, St Louis, Missouri 63108, USA
    Nature 420:520-62. 2002
    The sequence of the mouse genome is a key informational tool for understanding the contents of the human genome and a key experimental tool for biomedical research...
  21. ncbi Genome-wide mapping of in vivo protein-DNA interactions
    David S Johnson
    Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305 5120, USA
    Science 316:1497-502. 2007
    ..NRSF; also known as REST, for repressor element-1 silencing transcription factor) to 1946 locations in the human genome. The data display sharp resolution of binding position [+/-50 base pairs (bp)], which facilitated our finding ..
  22. pmc The impact of retrotransposons on human genome evolution
    Richard Cordaux
    CNRS UMR 6556 Ecologie, Evolution, Symbiose, Universite de Poitiers, 40 Avenue du Recteur Pineau, Poitiers, France
    Nat Rev Genet 10:691-703. 2009
    ..over the past 80 million years of primate evolution and now account for approximately one-third of the human genome. In this Review, we focus on this major class of elements and discuss the many ways that they affect the human ..
  23. ncbi The consensus coding sequences of human breast and colorectal cancers
    Tobias Sjoblom
    Ludwig Center and Howard Hughes Medical Institute, Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore, MD 21231, USA
    Science 314:268-74. 2006
    The elucidation of the human genome sequence has made it possible to identify genetic alterations in cancers in unprecedented detail...
  24. ncbi Principal components analysis corrects for stratification in genome-wide association studies
    Alkes L Price
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Nat Genet 38:904-9. 2006
    ..Our simple, efficient approach can easily be applied to disease studies with hundreds of thousands of markers...
  25. ncbi The structure of haplotype blocks in the human genome
    Stacey B Gabriel
    Whitehead MIT Center for Genome Research, Cambridge, MA 02139, USA
    Science 296:2225-9. 2002
    ..Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases of the human genome) in samples from Africa, Europe, and Asia...
  26. ncbi A new multipoint method for genome-wide association studies by imputation of genotypes
    Jonathan Marchini
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Nat Genet 39:906-13. 2007
    ..A notable future use of our method will be to boost power by combining data from genome-wide scans that use different SNP sets...
  27. ncbi Mobile elements: drivers of genome evolution
    Haig H Kazazian
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
    Science 303:1626-32. 2004
    ..Although the host can often control their numbers, massive expansions of retrotransposons have been tolerated during evolution. Now mobile elements are becoming useful tools for learning more about genome evolution and gene function...
  28. ncbi The G-protein-coupled receptors in the human genome form five main families. Phylogenetic analysis, paralogon groups, and fingerprints
    Robert Fredriksson
    Department of Neuroscience, Biomedical Center, Box 593, 75 124 Uppsala, Sweden
    Mol Pharmacol 63:1256-72. 2003
    ..Our novel approach of analyzing such large and diverse sequence sets may be useful for studies on GPCRs in other genomes and divergent protein families...
  29. pmc Mapping the genetic architecture of gene expression in human liver
    Eric E Schadt
    Rosetta Inpharmatics, Seattle, Washington, United States of America
    PLoS Biol 6:e107. 2008
    ..We also identify SORT1 and CELSR2 as candidate susceptibility genes for a locus recently associated with coronary artery disease and plasma low-density lipoprotein cholesterol levels in the process...
  30. pmc A genome-wide analysis of CpG dinucleotides in the human genome distinguishes two distinct classes of promoters
    Serge Saxonov
    Biomedical Informatics Program, Stanford University, Stanford, CA 94305, USA
    Proc Natl Acad Sci U S A 103:1412-7. 2006
    A striking feature of the human genome is the dearth of CpG dinucleotides (CpGs) interrupted occasionally by CpG islands (CGIs), regions with relatively high content of the dinucleotide...
  31. pmc Mapping short DNA sequencing reads and calling variants using mapping quality scores
    Heng Li
    The Wellcome Trust Sanger Institute, Hinxton CB10 1SA, United Kingdom
    Genome Res 18:1851-8. 2008
    ..Both read mapping and genotype calling are evaluated on simulated data and real data. MAQ is accurate, efficient, versatile, and user-friendly. It is freely available at http://maq.sourceforge.net...
  32. pmc Discovery and characterization of chromatin states for systematic annotation of the human genome
    Jason Ernst
    MIT Computer Science and Artificial Intelligence Laboratory, Cambridge, Massachusetts, USA
    Nat Biotechnol 28:817-25. 2010
    A plethora of epigenetic modifications have been described in the human genome and shown to play diverse roles in gene regulation, cellular differentiation and the onset of disease...
  33. ncbi Structural variation in the human genome and its role in disease
    Paweł Stankiewicz
    Department of Molecular, Baylor College of Medicine, Houston, Texas 77030, USA
    Annu Rev Med 61:437-55. 2010
    ..Both recombination- and replication-based mechanisms for CNV formation have been described...
  34. pmc Personalized copy number and segmental duplication maps using next-generation sequencing
    Can Alkan
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA
    Nat Genet 41:1061-7. 2009
    ..2 x 10(-16)). Our method can distinguish between different copies of highly identical genes, providing a more accurate assessment of gene content and insight into functional constraint without the limitations of array-based technology...
  35. ncbi The transcriptional landscape of the mammalian genome
    P Carninci
    Science 309:1559-63. 2005
    ..The data provide a comprehensive platform for the comparative analysis of mammalian transcriptional regulation in differentiation and development...
  36. pmc Phenotypic profiling of the human genome by time-lapse microscopy reveals cell division genes
    Beate Neumann
    MitoCheck Project Group, European Molecular Biology Laboratory EMBL, Meyerhofstrasse 1, D 69117 Heidelberg, Germany
    Nature 464:721-7. 2010
    Despite our rapidly growing knowledge about the human genome, we do not know all of the genes required for some of the most basic functions of life...
  37. pmc A map of recent positive selection in the human genome
    Benjamin F Voight
    Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
    PLoS Biol 4:e72. 2006
    ..For this purpose we have developed a set of SNPs that can be used to tag the strongest approximately 250 signals of recent selection in each population...
  38. pmc High-resolution mapping and characterization of open chromatin across the genome
    Alan P Boyle
    Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708, USA
    Cell 132:311-22. 2008
    ..In addition, and unexpectedly, our analyses have uncovered detailed features of nucleosome structure...
  39. pmc Combinatorial patterns of histone acetylations and methylations in the human genome
    Zhibin Wang
    Laboratory of Molecular Immunology, National Heart, Lung, and Blood Institute, US National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 40:897-903. 2008
    ..Our data suggest that these histone modifications may act cooperatively to prepare chromatin for transcriptional activation...
  40. ncbi Worldwide human relationships inferred from genome-wide patterns of variation
    Jun Z Li
    Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305 5120, USA
    Science 319:1100-4. 2008
    ..We studied 938 unrelated individuals from 51 populations of the Human Genome Diversity Panel at 650,000 common single-nucleotide polymorphism loci...
  41. ncbi A text-mining analysis of the human phenome
    Marc A van Driel
    Centre for Molecular and Biomolecular Informatics, Radboud University Nijmegen, Toernooiveld 1, 6525ED Nijmegen, The Netherlands
    Eur J Hum Genet 14:535-42. 2006
    ..Such predictions will further improve if a unified system of phenotype descriptors is developed. The phenotype similarity data are accessible through a web interface at http://www.cmbi.ru.nl/MimMiner/...
  42. pmc Core signaling pathways in human pancreatic cancers revealed by global genomic analyses
    Sian Jones
    Sol Goldman Pancreatic Cancer Research Center, Ludwig Center and Howard Hughes Medical Institute at the Johns Hopkins Kimmel Cancer Center, Baltimore, MD 21231, USA
    Science 321:1801-6. 2008
    ..Dysregulation of these core pathways and processes through mutation can explain the major features of pancreatic tumorigenesis...
  43. ncbi Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome
    Michael Weber
    Friedrich Miescher Institute for Biomedical Research, Maulbeerstrasse 66, CH 4058 Basel, Switzerland
    Nat Genet 39:457-66. 2007
    ..Moreover, we observe that inactive unmethylated CpG island promoters show elevated levels of dimethylation of Lys4 of histone H3, suggesting that this chromatin mark may protect DNA from methylation...
  44. pmc Population genomics of human gene expression
    Barbara E Stranger
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nat Genet 39:1217-24. 2007
    ..Our results strongly support an abundance of cis-regulatory variation in the human genome. Detection of trans effects is limited but suggests that regulatory variation may be the key primary effect ..
  45. pmc Assessing the evolutionary impact of amino acid mutations in the human genome
    Adam R Boyko
    Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York, USA
    PLoS Genet 4:e1000083. 2008
    Quantifying the distribution of fitness effects among newly arising mutations in the human genome is key to resolving important debates in medical and evolutionary genetics...
  46. ncbi Copy number variation: new insights in genome diversity
    Jennifer L Freeman
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    Genome Res 16:949-61. 2006
    ..Current efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution, and common human diseases...
  47. pmc The Ensembl genome database project
    T Hubbard
    The Wellcome Trust Sanger Institute and European Bioinformatics Institute EMBL EBI, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Nucleic Acids Res 30:38-41. 2002
    ..It is a comprehensive source of stable automatic annotation of the human genome sequence, with confirmed gene predictions that have been integrated with external data sources, and is ..
  48. ncbi The fundamental role of epigenetic events in cancer
    Peter A Jones
    USC Norris Comprehensive Cancer Center, Department of Urology, Keck School of Medicine, University of Southern California, 1441 Eastlake Avenue, MS 8302L, Los Angeles, California 90089 9181, USA
    Nat Rev Genet 3:415-28. 2002
    ..In this review, we discuss these epigenetic events and the molecular alterations that might cause them and/or underlie altered gene expression in cancer...
  49. pmc MBD-isolated Genome Sequencing provides a high-throughput and comprehensive survey of DNA methylation in the human genome
    David Serre
    Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Ave, mail code NE50, Cleveland, OH 44195, USA
    Nucleic Acids Res 38:391-9. 2010
    ..This technique is highly specific and sensitive and can be applied to any biological settings to identify differentially methylated regions at the genomic scale...
  50. pmc Genome-wide detection and characterization of positive selection in human populations
    Pardis C Sabeti
    Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
    Nature 449:913-8. 2007
    ..of dense maps of human genetic variation, it is now possible to detect positive natural selection across the human genome. Here we report an analysis of over 3 million polymorphisms from the International HapMap Project Phase 2 (..
  51. ncbi The sequence of the human genome
    J C Venter
    Celera Genomics, 45 West Gude Drive, Rockville, MD 20850, USA
    Science 291:1304-51. 2001
    A 2.91-billion base pair (bp) consensus sequence of the euchromatic portion of the human genome was generated by the whole-genome shotgun sequencing method. The 14...
  52. pmc A whole-genome association study of major determinants for host control of HIV-1
    Jacques Fellay
    Center for Population Genomics and Pharmacogenetics, Duke Institute for Genome Sciences and Policy, Duke University, Durham, NC 27710, USA
    Science 317:944-7. 2007
    ..These findings emphasize the importance of studying human genetic variation as a guide to combating infectious agents...
  53. pmc Relative impact of nucleotide and copy number variation on gene expression phenotypes
    Barbara E Stranger
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Science 315:848-53. 2007
    ..Interrogation of the genome for both types of variants may be an effective way to elucidate the causes of complex phenotypes and disease in humans...
  54. pmc Global variation in copy number in the human genome
    Richard Redon
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 444:444-54. 2006
    ..We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap ..
  55. pmc GENCODE: producing a reference annotation for ENCODE
    Jennifer Harrow
    Wellcome Trust Sanger Institute, Wellcome Trust Campus, Hinxton, Cambridge CB10 1SA, UK
    Genome Biol 7:S4.1-9. 2006
    ..This was achieved by a combination of initial manual annotation by the HAVANA team, experimental validation by the GENCODE consortium and a refinement of the annotation based on these experimental results...
  56. pmc Annotating the human genome with Disease Ontology
    John D Osborne
    Department of Microbiology, University of Alabama at Birmingham, Birmingham, AL 35294, USA
    BMC Genomics 10:S6. 2009
    The human genome has been extensively annotated with Gene Ontology for biological functions, but minimally computationally annotated for diseases.
  57. ncbi A global view of gene activity and alternative splicing by deep sequencing of the human transcriptome
    Marc Sultan
    Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
    Science 321:956-60. 2008
    ..A global survey of messenger RNA splicing events identified 94,241 splice junctions (4096 of which were previously unidentified) and showed that exon skipping is the most prevalent form of alternative splicing...
  58. ncbi Transcriptional regulatory elements in the human genome
    Glenn A Maston
    Howard Hughes Medical Institute, Programs in Gene Function and Expression and Molecular Medicine, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA
    Annu Rev Genomics Hum Genet 7:29-59. 2006
    ..Finally, we discuss the methods currently used to identify transcriptional regulatory elements, and the ability of these methods to be scaled up for the purpose of annotating the entire human genome.
  59. pmc Targeted capture and massively parallel sequencing of 12 human exomes
    Sarah B Ng
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 461:272-6. 2009
    ..This strategy may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact...
  60. pmc Strong association of de novo copy number mutations with autism
    Jonathan Sebat
    Cold Spring Harbor Laboratory, 1 Bungtown Road, Cold Spring Harbor, NY 11724, USA
    Science 316:445-9. 2007
    ..Affected genomic regions were highly heterogeneous and included mutations of single genes. These findings establish de novo germline mutation as a more significant risk factor for ASD than previously recognized...
  61. ncbi Widespread changes in protein synthesis induced by microRNAs
    Matthias Selbach
    Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, D 13125 Berlin, Germany
    Nature 455:58-63. 2008
    ..Finally, our data suggest that a miRNA can, by direct or indirect effects, tune protein synthesis from thousands of genes...
  62. pmc Ancient human genome sequence of an extinct Palaeo-Eskimo
    Morten Rasmussen
    Centre for GeoGenetics, Natural History Museum of Denmark and Department of Biology, University of Copenhagen, Universitetsparken 15, DK 2100 Copenhagen, Denmark
    Nature 463:757-62. 2010
    ..This provides evidence for a migration from Siberia into the New World some 5,500 years ago, independent of that giving rise to the modern Native Americans and Inuit...
  63. ncbi Gene map of the extended human MHC
    Roger Horton
    Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nat Rev Genet 5:889-99. 2004
    ..many MHC genes that are duplicated, polymorphic and associated with more diseases than any other region of the human genome. The recent completion of several large-scale studies offers the opportunity to assimilate the latest data into ..
  64. ncbi Genetics of gene expression and its effect on disease
    Valur Emilsson
    deCODE Genetics, 101 Reykjavik, Iceland
    Nature 452:423-8. 2008
    ..A core network module in humans and mice was identified that is enriched for genes involved in the inflammatory and immune response and has been found to be causally associated to obesity-related traits...
  65. pmc Genomic scans for selective sweeps using SNP data
    Rasmus Nielsen
    Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853, USA
    Genome Res 15:1566-75. 2005
    ..Evidence for selective sweeps is also found in many other regions, including genes known to be associated with disease risk such as DPP10 and COL4A3...
  66. pmc Calibrating a coalescent simulation of human genome sequence variation
    Stephen F Schaffner
    Program in Medical and Population Genetics, The Broad Institute, Cambridge, Massachusetts 02139, USA
    Genome Res 15:1576-83. 2005
    ..We anticipate that this model, for which software is publicly available, and others like it will have numerous applications in empirical studies of human genetics...
  67. ncbi Genomic control for association studies
    B Devlin
    Department of Psychiatry, University of Pittsburgh, Pennsylvania 15213, USA
    Biometrics 55:997-1004. 1999
    ..The performance of our genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders...
  68. ncbi Protein tyrosine phosphatases in the human genome
    Andres Alonso
    Program of Signal Transduction, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, CA 92037, USA
    Cell 117:699-711. 2004
    Tyrosine phosphorylation is catalyzed by protein tyrosine kinases, which are represented by 90 genes in the human genome. Here, we present the set of 107 genes in the human genome that encode members of the four protein tyrosine ..
  69. ncbi Human l1 retrotransposition is associated with genetic instability in vivo
    David E Symer
    Department of Molecular Biology and Genetics, John Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Cell 110:327-38. 2002
    ..In a striking number of integrants, short identical sequences were shared between the donor and the target site's 3' end, suggesting a mechanistic model that helps explain the structure of L1 insertions...
  70. ncbi Next-generation DNA sequencing methods
    Elaine R Mardis
    Department of Genetics and Molecular Microbiology and Genome Sequencing Center, Washington University School of Medicine, St Louis MO 63108, USA
    Annu Rev Genomics Hum Genet 9:387-402. 2008
    ..Taken together, an astounding potential exists for these technologies to bring enormous change in genetic and biological research and to enhance our fundamental biological knowledge...
  71. ncbi Circular binary segmentation for the analysis of array-based DNA copy number data
    Adam B Olshen
    Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10021, USA
    Biostatistics 5:557-72. 2004
    ..The method is evaluated by simulation and is demonstrated on cell line data with known copy number alterations and on a breast cancer cell line data set...
  72. ncbi Genome-wide analysis of estrogen receptor binding sites
    Jason S Carroll
    Department of Medical Oncology, Dana Farber Cancer Institute, Harvard Medical School, 44 Binney St, Boston, Massachusetts 02115, USA
    Nat Genet 38:1289-97. 2006
    ..Furthermore, this resource has allowed the identification of cis-regulatory sites in previously unexplored regions of the genome and the cooperating transcription factors underlying estrogen signaling in breast cancer...
  73. pmc Genome-wide association study identifies novel breast cancer susceptibility loci
    Douglas F Easton
    CR UK Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge CB1 8RN, UK
    Nature 447:1087-93. 2007
    ..05 level compared with an estimated 1,343 that would be expected by chance, indicating that many additional common susceptibility alleles may be identifiable by this approach...
  74. ncbi In vivo enhancer analysis of human conserved non-coding sequences
    Len A Pennacchio
    US Department of Energy Joint Genome Institute, Walnut Creek, California 94598, USA
    Nature 444:499-502. 2006
    ..elements, and characterized the in vivo enhancer activity of a large group of non-coding elements in the human genome that are conserved in human-pufferfish, Takifugu (Fugu) rubripes, or ultraconserved in human-mouse-rat...
  75. pmc Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing
    Peter J Campbell
    Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
    Nat Genet 40:722-9. 2008
    ..By investigating read pairs that did not align correctly with respect to each other on the reference human genome, we characterized 306 germline structural variants and 103 somatic rearrangements to the base-pair level of ..
  76. ncbi Newly identified loci that influence lipid concentrations and risk of coronary artery disease
    Cristen J Willer
    Center for Statistical Genetics, Department of Biostatistics, University of Michigan, 1420 Washington Heights, Ann Arbor, Michigan 48109, USA
    Nat Genet 40:161-9. 2008
    ..Notably, the 11 independent variants associated with increased LDL cholesterol concentrations in our study also showed increased frequency in a sample of coronary artery disease cases versus controls...
  77. pmc VISTA: computational tools for comparative genomics
    Kelly A Frazer
    Perlegen Sciences, Inc, 2021 Stierlin Court, Mountain View, CA 94043, USA
    Nucleic Acids Res 32:W273-9. 2004
    ..We illustrate capabilities of the VISTA site by the analysis of a 180 kb interval on human chromosome 5 that encodes for the kinesin family member 3A (KIF3A) protein...
  78. pmc How malaria has affected the human genome and what human genetics can teach us about malaria
    Dominic P Kwiatkowski
    Wellcome Trust Centre for Human Genetics and University Department of Paediatrics, Oxford, United Kingdom
    Am J Hum Genet 77:171-92. 2005
    ..of children worldwide and the strongest known force for evolutionary selection in the recent history of the human genome. The past decade has seen growing evidence of ethnic differences in susceptibility to malaria and of the ..
  79. pmc A human genome structural variation sequencing resource reveals insights into mutational mechanisms
    Jeffrey M Kidd
    Department of Genome Sciences, University of Washington School of Medicine, Seattle, 98195, USA
    Cell 143:837-47. 2010
    Understanding the prevailing mutational mechanisms responsible for human genome structural variation requires uniformity in the discovery of allelic variants and precision in terms of breakpoint delineation...
  80. pmc Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
    Jeffrey C Barrett
    Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK
    Nat Genet 40:955-62. 2008
    ..The expanded molecular understanding of the basis of this disease offers promise for informed therapeutic development...
  81. pmc Recurring mutations found by sequencing an acute myeloid leukemia genome
    Elaine R Mardis
    Department of Genetics, Washington University, St Louis, MO 63110, USA
    N Engl J Med 361:1058-66. 2009
    ..The full complement of DNA mutations that are responsible for the pathogenesis of acute myeloid leukemia (AML) is not yet known...
  82. pmc Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits
    Angelo Scuteri
    Unità Operativa Geriatria, Istituto per la Patologia Endocrina e Metabolica, Rome, Italy
    PLoS Genet 3:e115. 2007
    ..These changes could have a significant impact on the risk of obesity-related morbidity in the general population...
  83. pmc High-resolution mapping of expression-QTLs yields insight into human gene regulation
    Jean Baptiste Veyrieras
    Department of Human Genetics, The University of Chicago, Chicago, IL, USA
    PLoS Genet 4:e1000214. 2008
    ..Our results suggest an important role for mRNA stability in determining steady-state mRNA levels, and highlight the potential of eQTL mapping as a high-resolution tool for studying the determinants of gene regulation...
  84. ncbi Mutational evolution in a lobular breast tumour profiled at single nucleotide resolution
    Sohrab P Shah
    Molecular Oncology, BC Cancer Agency, 675 West 10th Avenue, Vancouver V5Z 1L3, Canada
    Nature 461:809-13. 2009
    ..Taken together, our data show that single nucleotide mutational heterogeneity can be a property of low or intermediate grade primary breast cancers and that significant evolution can occur with disease progression...
  85. pmc Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    Joshua M Korn
    Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
    Nat Genet 40:1253-60. 2008
    ..The Birdsuite software is applied here to data from the Affymetrix SNP 6.0 array. Additionally, we describe a method, implemented in PLINK, to utilize these combined SNP and CNV genotypes for association testing with a phenotype...
  86. pmc Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers
    George Adrian Calin
    Department of Microbiology and Immunology, Division of Clinical Pharmacology, Biostatistics Section, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Proc Natl Acad Sci U S A 101:2999-3004. 2004
    ..These data provide a catalog of miR genes that may have roles in cancer and argue that the full complement of miRs in a genome may be extensively involved in cancers...
  87. pmc Signals of recent positive selection in a worldwide sample of human populations
    Joseph K Pickrell
    Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
    Genome Res 19:826-37. 2009
    ..we present an analysis of recent selection in a global sample of 53 populations, using genotype data from the Human Genome Diversity-CEPH Panel...
  88. ncbi Bayesian inference of epistatic interactions in case-control studies
    Yu Zhang
    Department of Statistics, The Pennsylvania State University, Thomas Building 422A, University Park, Pennsylvania 16802, USA
    Nat Genet 39:1167-73. 2007
    Epistatic interactions among multiple genetic variants in the human genome may be important in determining individual susceptibility to common diseases...
  89. pmc The impact of recombination on nucleotide substitutions in the human genome
    Laurent Duret
    Laboratoire de Biometrie et Biologie Evolutive, Universite de Lyon, Universite Lyon 1, CNRS, UMR 5558, Villeurbanne, France
    PLoS Genet 4:e1000071. 2008
    ..We show that the predictions of this model fit very well with the observed substitution patterns in the human genome. This model notably explains the positive correlation between substitution rate and recombination rate...
  90. pmc Distinct DNA methylation patterns characterize differentiated human embryonic stem cells and developing human fetal liver
    Alayne L Brunner
    Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USA
    Genome Res 19:1044-56. 2009
    ..Taken together, our results indicate that hESC differentiation has a unique DNA methylation signature that may not be indicative of in vivo differentiation...
  91. pmc A small-cell lung cancer genome with complex signatures of tobacco exposure
    Erin D Pleasance
    Wellcome Trust Sanger Institute, Hinxton CB10 1SA, UK
    Nature 463:184-90. 2010
    ..These findings illustrate the potential for next-generation sequencing to provide unprecedented insights into mutational processes, cellular repair pathways and gene networks associated with cancer...
  92. ncbi An evolutionary view of human recombination
    Graham Coop
    Department of Human Genetics, University of Chicago, 920 East 58th Street, Chicago, Illinois 60637, USA
    Nat Rev Genet 8:23-34. 2007
    ....
  93. pmc Towards a comprehensive structural variation map of an individual human genome
    Andy W Pang
    Department of Molecular Genetics, University of Toronto, 1 King s College Circle, Toronto, Ontario M5S 1A8, Canada
    Genome Biol 11:R52. 2010
    ..It is still unclear to what extent a typical genome differs from the reference assembly, and the analysis of the genomes sequenced to date have shown varying results for copy number variation (CNV) and inversions...
  94. ncbi HIV-1 integration in the human genome favors active genes and local hotspots
    Astrid R W Schroder
    Infectious Disease Laboratory, The Salk Institute, 10010 North Torrey Pines Road, La Jolla, CA 92037, USA
    Cell 110:521-9. 2002
    ..Here we describe mapping of 524 sites of HIV cDNA integration on the human genome sequence. Genes were found to be strongly favored as integration acceptor sites...
  95. pmc Genomewide rapid association using mixed model and regression: a fast and simple method for genomewide pedigree-based quantitative trait loci association analysis
    Yurii S Aulchenko
    Department of Epidemiology and Biostatistics, Erasmus MC, 3000 CA Rotterdam, The Netherlands
    Genetics 177:577-85. 2007
    ..However, there is little or no difference in empirical power of MG and the proposed method. In any scenario, GRAMMAR is much faster than MG and enables rapid analysis of hundreds of thousands of markers...
  96. pmc Mobile interspersed repeats are major structural variants in the human genome
    Cheng Ran Lisa Huang
    Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA
    Cell 141:1171-82. 2010
    Characterizing structural variants in the human genome is of great importance, but a genome wide analysis to detect interspersed repeats has not been done...
  97. pmc Discovery and annotation of functional chromatin signatures in the human genome
    Gary Hon
    Bioinformatics Program, University of California at San Diego, La Jolla, California, United States of America
    PLoS Comput Biol 5:e1000566. 2009
    ..To identify novel chromatin signatures in the human genome, we apply a de novo pattern-finding algorithm to genome-wide maps of histone modifications...
  98. pmc Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
    Sekar Kathiresan
    Cardiology Division, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Nat Genet 40:189-97. 2008
    ..Understanding the molecular, cellular and clinical consequences of the newly identified loci may inform therapy and clinical care...
  99. pmc Integrating multiple evidence sources to predict transcription factor binding in the human genome
    Jason Ernst
    Machine Learning Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA
    Genome Res 20:526-36. 2010
    ..When combined with motif information our method outperforms previous methods for predicting locations of true binding...
  100. pmc ChromaSig: a probabilistic approach to finding common chromatin signatures in the human genome
    Gary Hon
    Bioinformatics Program, University of California San Diego, La Jolla, California, United States of America
    PLoS Comput Biol 4:e1000201. 2008
    ..Applying this algorithm to nine chromatin marks across a 1% sampling of the human genome in HeLa cells, we recover eight clusters of distinct chromatin signatures, five of which correspond to known ..

Research Grants78

  1. NIH Director's Pioneer Award
    Junying Yuan; Fiscal Year: 2009
    ..No Abstract provided ..
  2. High Throughput Genotyping and DNA Sequencing for Studying the Genetic Contributi
    Sonia Dua; Fiscal Year: 2013
    ..methylation in human samples using arrays that cover 10,000 to 250,000 potential sites of methylation in the human genome. 4) Assess and offer new fixed content panels as they become available. n...
  3. Role of the Y-Located TSPY Gene in Human Oncogenesis
    Yun Fai Chris Lau; Fiscal Year: 2013
    ..that is tandemly repeated up to 64 times, constituting the largest tandem array of functional sequences in the human genome. The TSPY repeats are hot spots for both genomic instability and epigenetic dysregulation on the Y chromosome...
  4. Environmental Risk Factors for Copy Number Variation in Human Chromosomes
    THOMAS EDWARD WILSON; Fiscal Year: 2010
    ..In recent years, copy number variants (CNVs) have been found to be widely distributed throughout the human genome where they represent an important component of genetic variation and play an integral role in phenotypic ..
  5. Targeting AP-1 proteins in COPD
    SEKHAR M POTHIREDDY; Fiscal Year: 2010
    ..The human genome encodes ~ 56 b-ZIP proteins that play key roles in regulating various cellular processes, including the ..
  6. Novel genomic effects of Y-linked polymorphisms
    Daniel L Hartl; Fiscal Year: 2012
    ..Y chromosome are likely to be quite general among organisms with genomes rich in heterochromatin including the human genome. Hence we predict that important phenotypic variation affecting human health and disease will ultimately be ..
  7. Genetics of the Neuromuscular Junction: Mechanisms and Disease Models
    Robert W Burgess; Fiscal Year: 2013
    ..1. We will also determine if the same region of the human genome contributes to variable severity in CMT2D patients in collaboration with Dr. Albena Jordanova...
  8. MAPPING OF ARTHRITIS SUSCEPTIBILITY GENES
    Tibor T Glant; Fiscal Year: 2013
    ..The major QTLs were selected to correspond with syntenic regions of the human genome, where several RA-associated QTLs have been identified...
  9. Complex I: Role of L Subunit in Proton Translocation
    Steven B Vik; Fiscal Year: 2011
    ..Mitochondria contain a small subset of the human genome, and several of these genes code for proteins that are components of an extremely important enzyme called ..
  10. Genetic &Functional Analyses of Hypertension Susceptibility Genes
    YEN PEI CHRISTY CHANG; Fiscal Year: 2013
    ..regulation and bioinformatics to mine the ever-expanding annotation of regulatory elements in the human genome. Initially we will focus on replicated HTN and BP-associated variants, but our long-term objective is to build ..
  11. Regulation of EBV Latency by EBNA1
    Paul M Lieberman; Fiscal Year: 2013
    ..sequencing (ChIP-Seq) and functional genomic methods to identify and characterize EBNA1 binding sites in the human genome. We now propose to advance these studies to better understand the role of EBNA1 in viral genome maintenance and ..
  12. High-affinity RNA targets of Survival Motor Neuron Protein
    Ravindra N Singh; Fiscal Year: 2013
    ..To determine the nature of cellular RNAs interacting with SMN, we will map CLIP tags to human genome. Using genomic mapping, we will determine crosslink-induced mutation sites (CIMS) that will help identify ..
  13. Molecular Determinants of DNA Sliding and Hopping by a DNA Repair Glycosylase
    MENG MENG ROWLAND; Fiscal Year: 2013
    ..the enzyme to rapidly locate rare lesion sites in a background of roughly 6 billion normal base pairs in the human genome. This general search mechanism has been referred to as "facilitated diffusion", where proteins utilize the DNA ..
  14. Roles of the mammalian CST complex in DNA replication and chromosome cohesion
    JASON AARON STEWART; Fiscal Year: 2013
    ..Based on the size of the human genome, replisome complexes are predicted to stall many times at natural impediments throughout the course of S-phase...
  15. Transposons in Female Reproductive Health and Disease
    Zev Williams; Fiscal Year: 2013
    ..Transposons are mobile genetic elements comprising nearly half of the human genome. Their replication can cause genetic damage and disease and must be suppressed in the oocyte...
  16. Genomics of RNA Editing: Identification and Regulation
    Jin Billy Li; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Through the efforts of the Human Genome Project and other large-scale investigations, it has become clear that the molecular origins of human complexity, disease, and distinctness from other organisms ..
  17. Triazole hypersensitivity in Candida albicans
    Neeraj Chauhan; Fiscal Year: 2009
    ..To date they have not yet been identified in animals and are absent in the human genome. Previous studies have confirmed the role of the two-component signal proteins in the pathogenesis of C...
  18. SIRT1 as a regulator of health and lifespan of mammals
    David A Sinclair; Fiscal Year: 2013
    ..aging, Aim 3 will investigate these fundamental processes, in part, by taking advantage of our screen of the human genome that has identified 98 new mitochondrial regulators...
  19. Structure and function of chloride channels and transporters
    Alessio Accardi; Fiscal Year: 2013
    ..The human genome encodes for 9 CLCs, 5 of which are transporters and 4 are channels...
  20. Genetic correction of human beta-thalassemic induced pluripotent stem cells
    EIRINI PAPAPETROU; Fiscal Year: 2012
    ..development of mentoring skills and training in research techniques such as bioinformatics analyses of the human genome and hematopoietic differentiation of human iPCSs...
  21. Nikkomycin Z treatment of early coccidioidal pneumonia: Phase II clinical trial
    DAVID LARWOOD; Fiscal Year: 2010
    ..fungal growth but chitin is not found in mammals and the genes for enzymes that make chitin do not exist in the human genome. Because of this difference, effects of nikkomycin Z should be very selective for its antifungal effect and ..
  22. Regulation of Ovarian Cancer Multidrug Resistance by MAP Kinases
    Scott T Eblen; Fiscal Year: 2013
    ..Alternative mRNA splicing affects 74% of the human genome. Alterations in alternative mRNA splicing factor expression occur in cancer and can strongly influence ..
  23. FASEB SRC on Hematopoietic Malignancies
    MICHELLE ALICE KELLIHER; Fiscal Year: 2011
    ..learned from the use of animal models;identification of LSCs and anti- LSC therapies;6) The impact of the human genome project in investigations of hematological malignancies, with an emphasis on functional genomics;7) Application ..
  24. Discovery of Critical Host Genes Enabling Resistance to HIV-1 Infection as Therap
    Leyla S Diaz; Fiscal Year: 2012
    ..These results demonstrate the power of FGI proprietary RHGP technology to identify host targets(s) in human genome that block viral infection and at the same time are non-toxic...
  25. Functional Selection of Novel Ligands from the Neuroendocrine Secretome
    David Larocca; Fiscal Year: 2010
    ..HEALTH RELEVANCE: In the post-genomic era the challenge is to fully understand the protein products of the human genome and how these function in health and disease...
  26. Noncoding RNAs as epigenomic modulators in Alzheimer's Disease
    CLAES ROBERT WAHLESTEDT; Fiscal Year: 2010
    ..our lab and others have provided strong evidence that, in sharp contrast to earlier understanding, much of the human genome is transcribed into non-protein-coding RNA (ncRNA)...
  27. REACTIVE OXYGEN SPECIES AND AGING
    Elias K Michaelis; Fiscal Year: 2012
    ..years, enormous shifts have occurred in the overall research enterprise, primarily due to the sequencing of the human genome and development of new technologies for the analysis of transcriptional, translational, and signaling events ..
  28. Nuclear Function of Abl in DNA Damage Response
    Jean Y J Wang; Fiscal Year: 2012
    ..The human genome contains approximately twenty thousand genes but encodes many more proteins through the alternative usage of ..
  29. Genetic correction of human beta-thalassemic induced pluripotent stem cells
    EIRINI PAPAPETROU; Fiscal Year: 2013
    ..development of mentoring skills and training in research techniques such as bioinformatics analyses of the human genome and hematopoietic differentiation of human iPCSs...
  30. Phylogenomics and functional diversification of the Heterochromatin Protein 1 gen
    MIA TAUNA LEVINE; Fiscal Year: 2012
    ..Only three HP1-like genes are currently annotated in the human genome, described over a decade ago by homology to the original three Drosophila HP1-like genes...
  31. The Role of Alternative Splicing Factor Sfrs10 in Neural Development
    Rahul N Kanadia; Fiscal Year: 2010
    ..AS is invoked to reconcile the difference between the relatively few (~24,000) protein coding genes in the human genome to its vast proteome...
  32. Analysis of the Human c-myc Gene Replication Origin
    Michael Leffak; Fiscal Year: 2012
    ..replicator as a replication origin are the same at its endogenous chromosomal site and at ectopic sites in the human genome. In this application, the c-myc replicator will be used as a model mammalian replication origin to study the ..
  33. Oocyte-derived R-spondin2 as a Follicle Stimulating Hormone
    AARON JW HSUEH; Fiscal Year: 2013
    ..There are four R-spondin paralogous genes (R-spondin1-4) in the human genome and these secreted proteins have been found to be potent growth factors for adult stem cells in ..
  34. Global Proteomic Screening by MALDI Spectrometric Imaging of Protein-Bead Arrays
    Mark Lim; Fiscal Year: 2012
    DESCRIPTION (provided by applicant): Sequencing of the human genome has led to a new and even more ambitious goal - characterization of the human proteome...
  35. Contribution of Sperm Nucleus to Paternal DNA Replication
    WILLIAM S WARD; Fiscal Year: 2013
    ..PUBLIC HEALTH RELEVANCE: The 30,000 or so genes that make up the human genome physically reside in DNA, a long tape-like molecule...
  36. Zebrafish Genetics to Identify Genes Involved in Hematopoiesis
    DHVANIT INDRAVADAN SHAH; Fiscal Year: 2013
    ..The zebrafish, with its close synteny to the human genome and its conserved molecular pathways regulating the development of hematopoietic tissues, offers a powerful ..
  37. Nuclear Receptor Networks in Human Disease
    Frances M Sladek; Fiscal Year: 2010
    ..in Aim 1 to computationally identify all the potential binding sites, target genes and related SNPs in the human genome for each nuclear receptor;and cross reference the results with databases linking genes and SNPs to human ..
  38. Statistical models to investigate long-distance QTL transcription regulation
    BARBARA ELIZABETH ENGELHARDT; Fiscal Year: 2011
    ..of genome-wide association studies link specific diseases or complex phenotypes to single mutations in the human genome. But translating these results to medical treatments requires a precise understanding of how that mutation ..
  39. Genetic hearing screening for newborns
    Xi Lin; Fiscal Year: 2009
    ..high per-patient cost needed to carry out front-end preparations to capture targeted deafness genes from the human genome. This STTR project will test and validate the core technology for a low-cost approach to efficiently capture ..
  40. High Fidelity Transcriptome Sequencing Tools
    MICHAEL JOSEPH LODES; Fiscal Year: 2011
    ..The future of research into human disease will be based in next generation sequencing (NGS) of the human genome and transcriptome (the set of all RNA molecules, including mRNA, rRNA, tRNA, and non-coding RNA produced in one ..
  41. Mammalian Mitochondrial One-Carbon Metabolism
    DEAN RAMSAY APPLING; Fiscal Year: 2010
    ..Using molecular tools made possible by the Human Genome Project, we are now able to study the mitochondrial pathway in humans and other mammals...
  42. Characterization of Enhancers in the Epidermal Differentiation Complex
    CRISTINA DE GUZMAN STRONG; Fiscal Year: 2012
    ..These aims will be completed during the mentored phase under Dr. Julie Segre at the National Human Genome Research Institute (NHGRI) in Bethesda, MD...
  43. Endogenous Retroviruses and the Immune Response to Pathogens
    JAQUELIN PAGE DUDLEY; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Approximately 8% of the human genome is composed of integrated copies of retroviral DNA...
  44. Analysis of Redox Modulated Signaling Networks in Response to Ionizing Radiation
    Cristina Furdui; Fiscal Year: 2013
    ..The completion of the human genome project and genetic screenings of several hundreds of human cancers over the last years, have led to the ..
  45. Discovery of Mendelian Dyslipidemia and Heart Attack Genes Using Exome Sequencing
    Sekar Kathiresan; Fiscal Year: 2013
    ..Exome sequencing refers to the sequencing and analysis of all protein-coding regions in the human genome. We hypothesize that: (1) additional novel genes responsible for Mendelian forms of low or high LDL-C exist;(2) ..
  46. Conducting Research in Pediatric Hematology/Oncology
    Debra L Friedman; Fiscal Year: 2013
    ..provided by applicant): There has been an explosion in molecular biology together with the sequencing of the human genome, development of increasingly complex bioinformatics techniques, translation of laboratory discoveries to ..
  47. Regulation of miRNA in breast cancer
    Carolyn M Klinge; Fiscal Year: 2013
    ..The human genome contains >700 miRNAs...
  48. Replication licensing and cell cycle checkpoints
    Jeanette Gowen Cook; Fiscal Year: 2013
    Precise duplication of the entire human genome requires that thousands of origins are licensed and then initiate replication exactly once per cell cycle...
  49. Human Population Diversity in Leukocyte Receptors
    PETER R PARHAM; Fiscal Year: 2013
    ..this NK cells use highly variable sets of interacting proteins that are specified by dedicated regions of the human genome. This project will determine the variability of these genes in the human population and how these differences ..
  50. Functional Characterization of CCDC130 Gene
    Deepak Kumar; Fiscal Year: 2012
    Sequencing of the human genome and transcriptome has left us with a monumental task of characterizing individual human genes using functional-genomics approaches...
  51. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    Antonio V Delgado-Escueta; Fiscal Year: 2013
    ..families with Illumina Human Linkage set (6095 SNPs) already approved by CIDR (NIH National Human Genome Research Institute) and look for more epilepsy causing developmental genes...
  52. Using Microfluidic Affinity Analysis to Probe Transcriptional Regulation
    POLLY MORRELL FORDYCE; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): In a watershed achievement, the Human Genome Project (HGP) recently sequenced the entire human genome, providing a wealth of information about potential genes and regulatory sequences...
  53. Characterization of RGC death susceptibility alleles
    Robert W Nickells; Fiscal Year: 2013
    ..we acquire more information on the mouse Rgcs1 locus, we will begin to interrogate the syntenic region of the human genome by examining for SNP differences in key candidate genes using a data set of human glaucoma patients housed at ..
  54. DGAP: Developmental Genome Anatomy Project
    CYNTHIA CASSON MORTON; Fiscal Year: 2013
    ..Consequently, these rare individuals offer a unique resource for functional annotation of the human genome and for revealing mechanisms operative in human development that would be difficult or impossible to identify ..
  55. PI-3 kinase effectors in insulin-responsive systems
    Silvia Corvera; Fiscal Year: 2010
    ..1998), Nature 394: 433). Approximately 40 proteins in the human genome contain FYVE domains, implicating them as candidates for important functions in signal transduction and ..
  56. Full Human Genome Sequencing in ALS
    Robert H Brown; Fiscal Year: 2010
    ....
  57. Stem Cell Models of Familial Combined Hypolipidemia
    Kiran Musunuru; Fiscal Year: 2013
    ..We propose to do this in the most rigorous possible way by (1) using human genome editing with cutting-edge TAL effector nuclease (TALEN) technology to generate isogenic human pluripotent stem ..
  58. Motoneuron-selective Rescue of SMA Model Mice
    Mendell Rimer; Fiscal Year: 2012
    ..This is explained by the presence of a second SMN gene in the human genome (SMN2)...
  59. DNA-Binding Protein Discovery by the Combinatorial Method REPSA
    Michael van Dyke; Fiscal Year: 2013
    ..While the Human Genome Project has yielded a wealth of information for both the human genome and other model organisms, much remains ..
  60. Engineering and Evaluation of Human L-Methionase for Cancer Therapy
    Everett Stone; Fiscal Year: 2013
    ..While the human genome does not encode any methionine lyase enzymes, in preliminary studies we deployed protein engineering strategies ..
  61. Regulation of miRNA expression in breast cancer cells
    CAROLYN KLINGE; Fiscal Year: 2009
    ..The human genome is thought to contain >400 miRNAs...
  62. Suppressors of cytokine signaling (SOCS) in HAART-treated HIV infection
    Maria C Villacres; Fiscal Year: 2010
    ..Current technology for DNA sequencing has allowed for mapping of single nucleotide polymorphisms (SNPs) in the human genome, which opens the possibility to investigate genetic factors influencing the pathogenesis of disease in humans...
  63. Methylation Landscape of the Human Genome
    Timothy Bestor; Fiscal Year: 2003
    The information content of the human genome is expanded by the covalent methylation of cytosine residues, which introduces approximately 3 X 10(7) residues of 5-methylcytosine per haploid genome...
  64. High-Throughput Assay for the Discovery of Small Molecule Inhibitors of microRNA
    Alexander Deiters; Fiscal Year: 2011
    ..RNAs of 21-23 nucleotides that are enzymatically processed from stem-loop precursors encoded within the human genome. They bind to untranslated regions in messenger RNA and induce a down-regulation of their transcription...
  65. MOLECULAR GENETIC ANALYSIS OF XQ28
    Stephen Warren; Fiscal Year: 1992
    ..cell line, as the sole human DNA present, permitting rapid saturational cloning of this small region of the human genome. For these reasons, Xq28 is an ideal region of the human genome for in-depth molecular analysis...
  66. HUMAN GENOME EDUCATION MODEL (HUGEM) PROJECT II
    E Lapham; Fiscal Year: 2001
    ..abstract) The field of medical genetics continues to witness dramatic advances (largely resulting from the Human Genome Project) which have led to an increased demand for genetic services and brought genetics issues to the ..
  67. HUMAN GENOME WORKSHOP--ETHICS, LAW AND SOCIAL POLICY
    Sherman Elias; Fiscal Year: 1990
    ..abstract) The applicant proposes to hold a two day workshop which will be open to the public on "The Human Genome: Law, Ethics and Society" in Washington, D.C. on January 24-25, 1991...
  68. The repetitive DNA structure of the human genome
    PETER WARBURTON; Fiscal Year: 2009
    The repetitive DNA structure of the human genome The recent completion of the human genome project gives today's scientists the privileged opportunity to provide, for the first and only time, a detailed comprehensive description of ..
  69. CODING & NONCODING REGIONS IN DNA SEQUENCES
    THOMAS JUKES; Fiscal Year: 1991
    ..our ability to analyze DNA sequences, with the eventual goal of applying this ability to analysis of the human genome. The human genome consists essentially of a sequence of four variables, the nucleotides A, C, G and T...
  70. HUMAN GENOME ANALYSIS WITH YAC CLONES
    David Schlessinger; Fiscal Year: 1990
    ..as cloning vectors may provide the basis for a new approach to systematic analysis of the contents of the human genome. Large YAC clones could bridge the gap between pedigree studies and cytogenetics, operating with 2-5 Mb ..
  71. International Conference for Ectodermal Dysplasias Classification
    Carlos F Salinas; Fiscal Year: 2012
    ..With the rapid advancement in the study of the human genome, new approaches for classifications for ectodermal dysplasias have been proposed...
  72. HUMAN GENOME RESEARCH IN AN INTERDEPENDENT WORLD
    Daniel Wikler; Fiscal Year: 1991
    Adapted from applicant's abstract) Many of the ethical, social, and legal issues which human genome research creates can and should be debated and resolved within the borders of particular countries and regions...
  73. INTEGRATED DNA SEQUENCING SYSTEM
    Stevan Jovanovich; Fiscal Year: 2001
    DESCRIPTION: (Applicant's Abstract) The Human Genome Project is rapidly developing a draft consensus sequence of the Human Genome...
  74. MAPPING AND SEQUENCING THE HUMAN GENOME
    Richard Myers; Fiscal Year: 1999
    The long term objective of this GESTEC proposal is to achieve three of the primary goals of the Human Genome Project over the next five years: 1. Construct a physical map of the entire human genome at 100 kb average resolution. 2...
  75. NEUROBIOLOGY AND GENETICS OF AUTISM
    M Spence; Fiscal Year: 2004
    ..and ACTH respond and interact differently before and after challenge in some children with AD and (3) the Human Genome Project has provided ahead of schedule a dense map of the human genome including about half of the expressed ..
  76. GENETIC MANIPULATION OF YEAST ARTIFICIAL CHROMOSOMES
    STEPHEN ELLEDGE; Fiscal Year: 1992
    ..Advances in this technology will be critical to the accomplishment of the goals put forth for the Human Genome Initiative...
  77. STATE GOVERNMENTS AND THE HUMAN GENOME PROJECT
    R Brown; Fiscal Year: 1991
    The 1988 Congressional funding for the Human Genome Project promises to deliver knowledge with great promise to solve many human problems...
  78. ADDRESSING THE ISSUE OF GAP REGIONS IN GENOME SEQUENCING
    John SantaLucia; Fiscal Year: 2001
    DESCRIPTION: (Adapted from the investigator's abstract) The Human Genome Project (HGP) promises to deliver a complete human genome sequence by the year 2005...