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. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Detail Information

Publications276 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. 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...
  5. 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...
  6. 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...
  7. 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
    ....
  8. 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...
  9. 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...
  10. 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 ..
  11. 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...
  12. 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 ..
  13. 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...
  14. 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
  15. 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...
  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 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...
  18. 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...
  19. 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...
  20. 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...
  21. 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...
  22. doi 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...
  23. 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 ..
  24. 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 ..
  25. 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...
  26. doi 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.
  27. 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...
  28. 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...
  29. 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...
  30. 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 ..
  31. 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...
  32. 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...
  33. 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...
  34. 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...
  35. 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...
  36. doi 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...
  37. 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 ..
  38. 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 ..
  39. 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...
  40. 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...
  41. 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...
  42. 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...
  43. doi 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...
  44. doi 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...
  45. 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...
  46. 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...
  47. 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.
  48. 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...
  49. doi 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...
  50. 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 ..
  51. 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...
  52. 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...
  53. 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...
  54. 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 (..
  55. 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...
  56. 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...
  57. 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 ..
  58. doi 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...
  59. 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...
  60. 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...
  61. 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...
  62. 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...
  63. 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...
  64. 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...
  65. 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...
  66. 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...
  67. doi 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...
  68. 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...
  69. 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...
  70. 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...
  71. 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...
  72. 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...
  73. 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
    ....
  74. 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...
  75. 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...
  76. 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...
  77. 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...
  78. 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...
  79. 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...
  80. 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...
  81. 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...
  82. 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 ..
  83. 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...
  84. ncbi A fine-scale map of recombination rates and hotspots across the human genome
    Simon Myers
    Department of Statistics, University of Oxford, 1 South Parks Road, Oxford OX1 3TG, UK
    Science 310:321-4. 2005
    ..We present a high-resolution genetic map of the human genome, based on statistical analyses of genetic variation data, and identify more than 25,000 recombination hotspots, ..
  85. pmc High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications
    Tamim H Shaikh
    Division of Genetics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
    Genome Res 19:1682-90. 2009
    ..Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics...
  86. doi Single-molecule sequencing of an individual human genome
    Dmitry Pushkarev
    Department of Bioengineering, Stanford University and Howard Hughes Medical Institute, Stanford, California, USA
    Nat Biotechnol 27:847-50. 2009
    ..Here we report the use of single-molecule methods to sequence an individual human genome. We aligned billions of 24- to 70-bp reads (32 bp average) to approximately 90% of the National Center for ..
  87. ncbi Whole-genome analysis of histone H3 lysine 4 and lysine 27 methylation in human embryonic stem cells
    Guangjin Pan
    Genome Center of Wisconsin, University of Wisconsin Madison, 425 Henry Mall, Madison, WI 53706 1580, USA
    Cell Stem Cell 1:299-312. 2007
    ..Our results demonstrate that H3K27me3 modifications change during early differentiation, both relieving existing repressive domains and imparting new ones, and that colocalization with H3K4me3 is not restricted to pluripotent cells...
  88. pmc Genes mirror geography within Europe
    John Novembre
    Department of Ecology and Evolutionary Biology, Interdepartmental Program in Bioinformatics, University of California Los Angeles, Los Angeles, California 90095, USA
    Nature 456:98-101. 2008
    ..variation in a sample of 3,000 European individuals genotyped at over half a million variable DNA sites in the human genome. Despite low average levels of genetic differentiation among Europeans, we find a close correspondence between ..
  89. pmc QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data
    Stefano Colella
    Genomics Laboratory, Wellcome Trust Centre for Human Genetics, Oxford, UK
    Nucleic Acids Res 35:2013-25. 2007
    Array-based technologies have been used to detect chromosomal copy number changes (aneuploidies) in the human genome. Recent studies identified numerous copy number variants (CNV) and some are common polymorphisms that may contribute to ..
  90. doi MAX-rank: a simple and robust genome-wide scan for case-control association studies
    Qizhai Li
    Biostatistics Branch, National Cancer Institute, Bethesda, MD 20892, USA
    Hum Genet 123:617-23. 2008
    ..Thus, we recommend to use MAX-rank for genome-wide scans. After the top-ranked SNPs are identified, their P-values based on MAX can be calculated and compared with the significance level...
  91. pmc Evidence for large inversion polymorphisms in the human genome from HapMap data
    Vikas Bansal
    Department of Computer Science and Engineering, University of California San Diego, La Jolla, California 92093 0004, USA
    Genome Res 17:219-30. 2007
    Knowledge about structural variation in the human genome has grown tremendously in the past few years. However, inversions represent a class of structural variation that remains difficult to detect...
  92. pmc Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
    Eleftheria Zeggini
    Oxford Centre for Diabetes, Endocrinology and Metabolism, University of Oxford, Churchill Hospital, Oxford, OX3 7LJ, UK
    Science 316:1336-41. 2007
    ..The regions identified underscore the importance of pathways influencing pancreatic beta cell development and function in the etiology of type 2 diabetes...
  93. ncbi Druggability of human disease genes
    Meena Kishore Sakharkar
    Nanyang Centre for Supercomputing and Visualization, School of Mechanical and Aerospace Engineering MAE, Nanyang Technological University, Singapore
    Int J Biochem Cell Biol 39:1156-64. 2007
    ..to provide an accurate description of gene functions to a set of 1737 highly curated disease genes in the human genome. This analysis is the first attempt on in silico identification of druggable domains within disease genes...
  94. ncbi Are linkage analysis and the collection of family data dead? Prospects for family studies in the age of genome-wide association
    Francoise Clerget-Darpoux
    Hum Hered 64:91-6. 2007
  95. pmc A genomewide admixture mapping panel for Hispanic/Latino populations
    Xianyun Mao
    Department of Anthropology, The Pennsylvania State University, University Park, PA 16801, USA
    Am J Hum Genet 80:1171-8. 2007
    ..This genomewide AM panel will make it possible to apply AM approaches in many admixed populations throughout the Americas...
  96. doi The complete genome of an individual by massively parallel DNA sequencing
    David A Wheeler
    Human Genome Sequencing Center, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030, USA
    Nature 452:872-6. 2008
    ..However, the formidable size of the diploid human genome, approximately 6 gigabases, has prevented the routine application of sequencing methods to deciphering complete ..
  97. doi Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2
    Andre Franke
    Institute for Clinical Molecular Biology, Christian Albrechts University, Kiel, Germany
    Gastroenterology 135:1207-15. 2008
    ..Crohn's disease (CD) and sarcoidosis (SA) are chronic inflammatory barrier diseases that share several clinical and immunological features, including the occurrence of granulomas...
  98. doi Expression of Kruppel-like factor 5 gene in human brain and association of the gene with the susceptibility to schizophrenia
    Masaya Yanagi
    Division of Psychiatry and Neurology, Department of Environmental Health and Safety, Faculty of Medical Sciences, Kobe University Graduate School of Medicine, Kobe, Japan
    Schizophr Res 100:291-301. 2008
    ..These findings suggest that the KLF5 gene is a novel schizophrenia-susceptibility gene, and that the expression of the gene is involved in the pathophysiology of schizophrenia via glutamatergic neurotransmission...
  99. ncbi Selection of genes and single nucleotide polymorphisms for fine mapping starting from a broad linkage region
    An Windelinckx
    Research Center for Exercise and Health, Department of Biomedical Kinesiology, Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Leuven, Belgium
    Twin Res Hum Genet 10:871-85. 2007
    ..This resulted in the selection of 331 polymorphisms located in 112 different candidate genes out of an initial set of 23,300 SNPs...
  100. ncbi A fast boosting-based screening method for large-scale association study in complex traits with genetic heterogeneity
    Lu Yong Wang
    Integrated Data Syst Dept, Siemens Corp Res Inc, Princeton, NJ 08540, USA
    Conf Proc IEEE Eng Med Biol Soc 1:5771-4. 2006
    ..It provides a relatively fast and fairly good tool for screening and limiting the candidate SNPs for further more complex computational modeling task...

Research Grants99

  1. Ty3 viruslike particle morphogenesis and host interactions
    Suzanne Sandmeyer; Fiscal Year: 2010
    Retrotransposons comprise almost half of the human genome and substantial fractions of other metazoan genomes. Nonetheless, the mechanisms and localization of retrotransposon assembly are poorly understood...
  2. A Haplotype Map for Multiple Sclerosis
    Stephen L Hauser; Fiscal Year: 2010
    ..result of rapid progress in defining the landscape of genetic organization and cataloging variation across the human genome. This proposal builds on the availability of second generation, high-quality genome-wide association results ..
  3. True Direct Single Molecule RNA Sequencing
    PATRICE MARIE MILOS; Fiscal Year: 2010
    ..PUBLIC HEALTH RELEVANCE: In 2003, Human Genome Project (HGP) released a working draft of the human genome sequence...
  4. Genome-scale anaylsis of DNA methylation in CpG Islands with bisulfite sequencing
    Kun Zhang; Fiscal Year: 2009
    ..processes as well as the etiology of many human diseases However, in contrast to rapid advances in human genome sequencing, it is still impractical to characterize the methylation status of every single CpG in the human ..
  5. Genome-scale anaylsis of DNA methylation in CpG Islands with bisulfite sequencing
    Kun Zhang; Fiscal Year: 2009
    ..processes as well as the etiology of many human diseases However, in contrast to rapid advances in human genome sequencing, it is still impractical to characterize the methylation status of every single CpG in the human ..
  6. Genome-scale anaylsis of DNA methylation in CpG Islands with bisulfite sequencing
    KUN contact ZHANG; Fiscal Year: 2010
    ..processes as well as the etiology of many human diseases However, in contrast to rapid advances in human genome sequencing, it is still impractical to characterize the methylation status of every single CpG in the human ..
  7. 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...
  8. Chemical Genomics Paradigm for Epigenetic Regulation
    Ming Ming Zhou; Fiscal Year: 2009
    ..in post genomic biomedical research is to translate the information encoded in genes and gene products of the human genome into an understanding of their functions in cellular physiology and patho- physiology, and into new approaches ..
  9. Chemical Genomics Paradigm for Epigenetic Regulation
    Ming Ming Zhou; Fiscal Year: 2010
    ..in post genomic biomedical research is to translate the information encoded in genes and gene products of the human genome into an understanding of their functions in cellular physiology and patho- physiology, and into new approaches ..
  10. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2009
    Our ability to identify the majority of exons in the human genome has been dramatically facilitated by the availability of extensive experimental data (EST, cDNA, and protein sequences) thereby providing training sets for the development ..
  11. Generation of an In Vivo Human Genome Transcriptional Enhancer Dataset
    Len Pennacchio; Fiscal Year: 2009
    Our ability to identify the majority of exons in the human genome has been dramatically facilitated by the availability of extensive experimental data (EST, cDNA, and protein sequences) thereby providing training sets for the ..
  12. Analysis of Redox Modulated Signaling Networks in Response to Ionizing Radiation
    Cristina Furdui; Fiscal Year: 2010
    ..The completion of the human genome project and genetic screenings of several hundreds of human cancers over the last years, have led to the ..
  13. Analysis of the Human c-myc Gene Replication Origin
    Michael Leffak; Fiscal Year: 2009
    ..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 ..
  14. 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 ..
  15. Repetitive DNA structure of the human genome
    PETER WARBURTON; Fiscal Year: 2007
    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 the ..
  16. Tailor-made variants of site-specific recombinases as tools for genome engineerin
    Yuri Voziyanov; Fiscal Year: 2009
    ..We aim to (1) identify and classify all DNA sequences in human genome that resemble native recombination target for Flp, FRT; (2) evolve Flp variants that can recombine the ..
  17. Retrotransposon expression within ribosomal gene loci
    Thomas H Eickbush; Fiscal Year: 2010
    ..For example, at least 40% of the human genome is composed of these reverse transcripts...
  18. Tailor-made variants of site-specific recombinases as tools for genome engineerin
    Yuri Voziyanov; Fiscal Year: 2010
    ..We aim to (1) identify and classify all DNA sequences in human genome that resemble native recombination target for Flp, FRT;(2) evolve Flp variants that can recombine the ..
  19. Retrotransposon expression within ribosomal gene loci
    Thomas H Eickbush; Fiscal Year: 2011
    ..For example, at least 40% of the human genome is composed of these reverse transcripts...
  20. Line-1 Retrotransposition in Human Embryonic Stem Cells
    John Moran; Fiscal Year: 2009
    ..The overwhelming majority of L1s can no longer move (i.e., retrotranspose). However, the average human genome contains ~80-100 retrotransposition-competent L1s (RC-L1s) and their mobility, in both germ line and somatic ..
  21. Line-1 Retrotransposition in Human Embryonic Stem Cells
    John V Moran; Fiscal Year: 2010
    ..The overwhelming majority of L1s can no longer move (i.e., retrotranspose). However, the average human genome contains ~80-100 retrotransposition-competent L1s (RC-L1s) and their mobility, in both germ line and somatic ..
  22. 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 ..
  23. Generation of an In Vivo Human Genome Enhancer Dataset
    LEN ALEXANDER PENNACCHIO; Fiscal Year: 2010
    ..this renewal application is to identify and define the in vivo activities of a sizeable set of enhancers in the human genome to serve as a springboard for broad community access...
  24. A systematic RNAi-based map of C. elegans embryogenesis
    Fabio Piano; Fiscal Year: 2007
    One of the next major goals of the Human Genome Project is to identify the function of all the genes it encodes...
  25. Quantitative Redox Biology
    Garry Buettner; Fiscal Year: 2009
    One of the major accomplishments in biology of the last century has been the sequencing of the human genome. This has brought about a revolution, allowing researchers to gain information on cellular proteins, function, and human health ..
  26. Quantitative Redox Biology
    Garry R Buettner; Fiscal Year: 2010
    One of the major accomplishments in biology of the last century has been the sequencing of the human genome. This has brought about a revolution, allowing researchers to gain information on cellular proteins, function, and human health ..
  27. 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...
  28. Genome-wide Copy Number Variation and Breast Cancer Risk
    Jirong Long; Fiscal Year: 2009
    ..duplication and/or deletion, termed as copy number variation (CNV), has been shown to frequently occur in the human genome. CNVs account for more nucleotide variation than SNPs and they may be an unrecognized source of breast cancer ..
  29. Genome-wide Copy Number Variation and Breast Cancer Risk
    Jirong Long; Fiscal Year: 2010
    ..duplication and/or deletion, termed as copy number variation (CNV), has been shown to frequently occur in the human genome. CNVs account for more nucleotide variation than SNPs and they may be an unrecognized source of breast cancer ..