Nigel P Carter

Summary

Affiliation: Wellcome Trust Genome Campus
Country: UK

Publications

  1. pmc Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
    John C Marioni
    Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK
    Genome Biol 8:R228. 2007
  2. pmc Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, MRB 2nd floor, De Pintelaan 185, B 9000 Ghent, Belgium
    BMC Genomics 6:97. 2005
  3. pmc Definition of the zebrafish genome using flow cytometry and cytogenetic mapping
    Jennifer L Freeman
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    BMC Genomics 8:195. 2007
  4. ncbi request reprint Applications of genomic microarrays to explore human chromosome structure and function
    Nigel P Carter
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK
    Hum Mol Genet 13:R297-302. 2004
  5. pmc Methods and strategies for analyzing copy number variation using DNA microarrays
    Nigel P Carter
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Nat Genet 39:S16-21. 2007
  6. ncbi request reprint Comparative analysis of comparative genomic hybridization microarray technologies: report of a workshop sponsored by the Wellcome Trust
    N P Carter
    Wellcome Trust Sanger Institute, Hinxton, United Kingdom
    Cytometry 49:43-8. 2002
  7. ncbi request reprint Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization
    Eleanor J Davison
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Genes Chromosomes Cancer 44:384-91. 2005
  8. pmc High resolution array-CGH analysis of single cells
    Heike Fiegler
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nucleic Acids Res 35:e15. 2007
  9. 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
  10. 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

Detail Information

Publications99

  1. pmc Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization
    John C Marioni
    Computational Biology Group, Department of Applied Mathematics and Theoretical Physics, University of Cambridge, Centre for Mathematical Sciences, Wilberforce Road, Cambridge CB3 0WA, UK
    Genome Biol 8:R228. 2007
    ..However, methods for analyzing the complex data produced and identifying regions of CNV are still being refined...
  2. pmc Positional and functional mapping of a neuroblastoma differentiation gene on chromosome 11
    Katleen De Preter
    Center for Medical Genetics, Ghent University Hospital, MRB 2nd floor, De Pintelaan 185, B 9000 Ghent, Belgium
    BMC Genomics 6:97. 2005
    ..We decided to further exploit this model system as a means to identify candidate tumour suppressor or differentiation genes located on chromosome 11...
  3. pmc Definition of the zebrafish genome using flow cytometry and cytogenetic mapping
    Jennifer L Freeman
    Department of Pathology, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    BMC Genomics 8:195. 2007
    ..Cytogenetic approaches provide "anchors" that can be integrated with accumulating genomic data...
  4. ncbi request reprint Applications of genomic microarrays to explore human chromosome structure and function
    Nigel P Carter
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK
    Hum Mol Genet 13:R297-302. 2004
    ..In particular, the use of chromatin immunoprecipitation is providing new insights into chromosome structure and gene regulation and control through the analysis of protein--DNA interactions...
  5. pmc Methods and strategies for analyzing copy number variation using DNA microarrays
    Nigel P Carter
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Nat Genet 39:S16-21. 2007
    ....
  6. ncbi request reprint Comparative analysis of comparative genomic hybridization microarray technologies: report of a workshop sponsored by the Wellcome Trust
    N P Carter
    Wellcome Trust Sanger Institute, Hinxton, United Kingdom
    Cytometry 49:43-8. 2002
    ..Array-comparative genomic hybridization (CGH), although providing much higher resolution compared with conventional CGH, has not yet become a widely applied method for the analysis of genomic gains and losses...
  7. ncbi request reprint Deletion at chromosome band 20p12.1 in colorectal cancer revealed by high resolution array comparative genomic hybridization
    Eleanor J Davison
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Genes Chromosomes Cancer 44:384-91. 2005
    ..Sequence changes in BA318C17.1 and reduced expression of both genes was detected, suggesting that the abrogation of these genes may play a role in colorectal tumorigenesis...
  8. pmc High resolution array-CGH analysis of single cells
    Heike Fiegler
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nucleic Acids Res 35:e15. 2007
    ..Our results demonstrate the potential of this technology for studies of tumor biology and for clinical diagnostics...
  9. 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
    ....
  10. 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
    ..The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies...
  11. pmc Accurate and reliable high-throughput detection of copy number variation in the human genome
    Heike Fiegler
    The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom
    Genome Res 16:1566-74. 2006
    ..Based on these studies, we developed a variance-based automatic copy number detection analysis process (CNVfinder) and have demonstrated its robustness by comparison with the SW-ARRAY method...
  12. pmc Massively parallel sequencing reveals the complex structure of an irradiated human chromosome on a mouse background in the Tc1 model of Down syndrome
    Susan M Gribble
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, United Kingdom
    PLoS ONE 8:e60482. 2013
    ..Sequence data generated in this study is deposited in the ENA database, Study Accession number: ERP000439...
  13. ncbi request reprint Replication timing of human chromosome 6
    Kathryn Woodfine
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Cell Cycle 4:172-6. 2005
    ..Positive correlations are observed between replication timing and a number of genomic features including GC content, repeat content and transcriptional activity...
  14. ncbi request reprint Genomic array technology
    Heike Fiegler
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom
    Methods Cell Biol 75:769-85. 2004
  15. pmc Array painting: a protocol for the rapid analysis of aberrant chromosomes using DNA microarrays
    Susan M Gribble
    Human Genetics, Sulston Laboratories, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK
    Nat Protoc 4:1722-36. 2009
    ..The protocol described produces good quality data; however, array painting is equally achievable using any combination of the available alternative methodologies for chromosome isolation, amplification and hybridization...
  16. pmc Comparative genomic hybridization: DNA preparation for microarray fabrication
    Richard Redon
    Wellcome Trust, Sanger Institute, Cambridge, UK
    Methods Mol Biol 529:259-66. 2009
    ..The protocols are scalable for the construction of microarrays composed of several hundreds up to several ten thousands clones...
  17. pmc Construction and use of spotted large-insert clone DNA microarrays for the detection of genomic copy number changes
    Heike Fiegler
    The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nat Protoc 2:577-87. 2007
    ..According to our protocols, the procedure will take approximately 3 days from labeling the DNA to scanning the hybridized slides...
  18. ncbi request reprint Array comparative genomic hybridization analysis of colorectal cancer cell lines and primary carcinomas
    Eleanor J Douglas
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Cancer Res 64:4817-25. 2004
    ..3 amplification a common finding in MSI+ samples. A number of genes of interest are located within the frequently aberrated regions, which are likely to be of importance in the development and progression of CRC...
  19. pmc Flow analysis and sorting of microchromosomes (<3 Mb)
    Bee L Ng
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom
    Cytometry A 71:410-3. 2007
    ..The aim of this study was to investigate the capability of using a conventional flow cytometer for the detection and sorting at high purity microchromosomes with an estimated size of 2.7 Mb...
  20. pmc The zebrafish reference genome sequence and its relationship to the human genome
    Kerstin Howe
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 496:498-503. 2013
    ....
  21. doi request reprint The role of DNA copy number variation in schizophrenia
    Gloria W C Tam
    The Wellcome Trust Sanger Institute, Hinxton, United Kingdom
    Biol Psychiatry 66:1005-12. 2009
    ..Here, we review the major findings in the recent literature, which begin to unravel the genetic and biological architecture of this complex human neuropsychiatric disorder...
  22. pmc Laser excitation power and the flow cytometric resolution of complex karyotypes
    Bee L Ng
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, United Kingdom
    Cytometry A 77:585-8. 2010
    ..This study demonstrates the requirement for high-laser powers for the accurate detection and purification of chromosomes, particularly from complex karyotypes, using a conventional flow cytometer...
  23. pmc Comparative genomic hybridization: DNA labeling, hybridization and detection
    Richard Redon
    Wellcome Trust, Sanger Institute, Cambridge, UK
    Methods Mol Biol 529:267-78. 2009
    ....
  24. ncbi request reprint Factors affecting flow karyotype resolution
    Bee Ling Ng
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Cytometry A 69:1028-36. 2006
    ..We have investigated the factors involved in the preparation of chromosome suspensions that influence karyotype resolution...
  25. ncbi request reprint Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability
    Charles Shaw-Smith
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Cambridge CB2 2QQ, UK
    Nat Genet 38:1032-7. 2006
    ..The orientation of LCRs flanking the deleted segment in inversion heterozygotes is likely to facilitate the generation of this microdeletion by means of non-allelic homologous recombination...
  26. pmc Prenatal detection of unbalanced chromosomal rearrangements by array CGH
    L Rickman
    University of Cambridge, Department of Medical Genetics, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    J Med Genet 43:353-61. 2006
    ..We have developed a genomic microarray of approximately 600 large insert clones designed to detect aneuploidy, known microdeletion syndromes, and large unbalanced chromosomal rearrangements...
  27. ncbi request reprint The DNA sequence and biological annotation of human chromosome 1
    S G Gregory
    The Wellcome Trust Sanger Institute, The Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Nature 441:315-21. 2006
    ....
  28. ncbi request reprint The DNA sequence and analysis of human chromosome 6
    A J Mungall
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 425:805-11. 2003
    ..Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome...
  29. ncbi request reprint The DNA sequence and comparative analysis of human chromosome 20
    P Deloukas
    The Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK
    Nature 414:865-71. 2001
    ....
  30. ncbi request reprint The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X
    D R Bentley
    The Sanger Centre, Hinxton, Cambridge, UK
    Nature 409:942-3. 2001
    ..By measuring the remaining gaps, we can assess chromosome length and coverage in sequenced clones...
  31. ncbi request reprint Prenatal diagnosis by array-CGH
    L Rickman
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Hills Road, Cambridge, CB2 2QQ, United Kingdom
    Eur J Med Genet 48:232-40. 2005
    ..Array-CGH has the potential to be used for prenatal diagnosis and may address many of the limitations of both conventional microscopic cytogenetic analyses and the more recently employed rapid-screening strategies...
  32. pmc The DNA sequence and analysis of human chromosome 13
    A Dunham
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire, CB10 1SA, UK
    Nature 428:522-8. 2004
    ..Chromosome 13 has one of the lowest gene densities (6.5 genes per Mb) among human chromosomes, and contains a central region of 38 Mb where the gene density drops to only 3.1 genes per Mb...
  33. ncbi request reprint The DNA sequence and comparative analysis of human chromosome 10
    P Deloukas
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK
    Nature 429:375-81. 2004
    ..Assessment of single base changes between the human chromosome 10 and chimpanzee sequence revealed nonsense mutations in only 21 coding genes with respect to the human sequence...
  34. pmc DNA sequence and analysis of human chromosome 9
    S J Humphray
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 429:369-74. 2004
    ..We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection...
  35. pmc Adaptive evolution of UGT2B17 copy-number variation
    Yali Xue
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK
    Am J Hum Genet 83:337-46. 2008
    ..In contrast, diversity was low in East Asia where a single haplotype predominated, suggesting positive selection for the deletion in this part of the world...
  36. ncbi request reprint Replication timing of the human genome
    Kathryn Woodfine
    The Welcome Trust Sanger Institute, Welcome Genome Campus, Cambridge, UK
    Hum Mol Genet 13:191-202. 2004
    ..We show a positive correlation, both genome-wide and at a high resolution, between replication timing and a range of genome parameters including GC content, gene density and transcriptional activity...
  37. pmc DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders
    Ganesh J Swaminathan
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, UK
    Hum Mol Genet 21:R37-44. 2012
    ..This article briefly summarizes the current status and achievements of the DECIPHER project and looks ahead to the opportunities and challenges of jointly analysing structural and sequence variation in the human genome...
  38. pmc aCGH.Spline--an R package for aCGH dye bias normalization
    Tomas W Fitzgerald
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Bioinformatics 27:1195-200. 2011
    ..If left unchecked, this bias is likely to skew data interpretation during downstream analysis and lead to an increased number of false discoveries...
  39. pmc Comparative genomic hybridization: microarray design and data interpretation
    Richard Redon
    Wellcome Trust, Sanger Institute, Cambridge, UK
    Methods Mol Biol 529:37-49. 2009
    ....
  40. pmc Massive genomic rearrangement acquired in a single catastrophic event during cancer development
    Philip J Stephens
    Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK
    Cell 144:27-40. 2011
    ..We find that one, or indeed more than one, cancer-causing lesion can emerge out of the genomic crisis. This phenomenon has important implications for the origins of genomic remodeling and temporal emergence of cancer...
  41. ncbi request reprint DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones
    Heike Fiegler
    Wellcome Trust Sanger Institute Cancer Research UK Genomic Microarray Group, Hinxton, Cambridge, CB10 1SA, United Kingdom
    Genes Chromosomes Cancer 36:361-74. 2003
    ....
  42. pmc Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree
    Yali Xue
    The Wellcome Trust Sanger Institute, Hinxton, Cambs CB10 1SA, UK
    Curr Biol 19:1453-7. 2009
    ..0 x 10(-8)), consistent with estimates of 2.3 x 10(-8)-6.3 x 10(-8) mutations/nucleotide/generation for the same Y-chromosomal region from published human-chimpanzee comparisons depending on the generation and split times assumed...
  43. pmc Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
    Caroline F Wright
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, UK Electronic address
    Lancet 385:1305-14. 2015
    ....
  44. pmc Germline rates of de novo meiotic deletions and duplications causing several genomic disorders
    Daniel J Turner
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge, CB10 1SA, UK
    Nat Genet 40:90-5. 2008
    ....
  45. ncbi request reprint Chromosome paints from single copies of chromosomes
    Susan Gribble
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Chromosome Res 12:143-51. 2004
    ..e. from single cells or from small pieces of microdissected tissue...
  46. pmc The DNA sequence of the human X chromosome
    Mark T Ross
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Nature 434:325-37. 2005
    ..Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence...
  47. pmc The landscape of histone modifications across 1% of the human genome in five human cell lines
    Christoph M Koch
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB101SA, United Kingdom
    Genome Res 17:691-707. 2007
    ..These results provide an overview of the functional relationship among histone modifications and gene expression in human cells...
  48. pmc Small regions of overlapping deletions on 6q26 in human astrocytic tumours identified using chromosome 6 tile path array-CGH
    K Ichimura
    Department of Pathology, Division of Molecular Histopathology, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Oncogene 25:1261-71. 2006
    ..We confirmed the high frequency of chromosome 6 deletions in AA and GB, and identified two novel commonly deleted regions that may harbour TSGs...
  49. pmc Array painting reveals a high frequency of balanced translocations in breast cancer cell lines that break in cancer-relevant genes
    K D Howarth
    Department of Pathology, Hutchison MRC Research Centre, University of Cambridge, Cambridge, UK
    Oncogene 27:3345-59. 2008
    ..Two gene fusions were demonstrated, TAX1BP1-AHCY and RIF1-PKD1L1. Our results support the idea that chromosome rearrangements may play an important role in common epithelial cancers such as breast cancer...
  50. pmc Ultra-high resolution array painting facilitates breakpoint sequencing
    S M Gribble
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    J Med Genet 44:51-8. 2007
    ..To describe a considerably advanced method of array painting, which allows the rapid, ultra-high resolution mapping of translocation breakpoints such that rearrangement junction fragments can be amplified directly and sequenced...
  51. pmc The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes
    S M Gribble
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    J Med Genet 42:8-16. 2005
    ....
  52. doi request reprint Confirmed rare copy number variants implicate novel genes in schizophrenia
    Gloria W C Tam
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Biochem Soc Trans 38:445-51. 2010
    ..genes2cognition.org/SCZ-CNV). Integrating the function of these many genes into a coherent model of schizophrenia and cognition is a major unanswered challenge...
  53. ncbi request reprint Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome
    Richard Redon
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK
    Eur J Hum Genet 14:759-67. 2006
    ..We suggest therefore that microdeletion of 9q22.32-q22.33 is a novel cause of overgrowth and mental retardation. Its association with distinctive facial features should help in recognising this novel phenotype...
  54. pmc Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    C Shaw-Smith
    University of Cambridge Department of Medical Genetics, Addenbrooke s Hospital, Hills Road, Cambridge, UK
    J Med Genet 41:241-8. 2004
    ..On the basis of these results, we anticipate that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability...
  55. ncbi request reprint Applications of combined DNA microarray and chromosome sorting technologies
    S M Gribble
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA, UK
    Chromosome Res 12:35-43. 2004
    ....
  56. pmc Array painting: a method for the rapid analysis of aberrant chromosomes using DNA microarrays
    H Fiegler
    The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    J Med Genet 40:664-70. 2003
    ..The authors describe a method, termed array painting, which allows the rapid, high resolution analysis of the content and breakpoints of aberrant chromosomes...
  57. ncbi request reprint Chromosomal localization of the mitochondrial phosphate carrier gene PHC to 12q23
    S Marsh
    Sanger Centre, Hinxton, Cambridgeshire, United Kingdom
    Genomics 29:814-5. 1995
  58. ncbi request reprint Human immunoglobulin VH and D segments on chromosomes 15q11.2 and 16p11.2
    I M Tomlinson
    MRC Laboratory of Molecular Biology, Cambridge, UK
    Hum Mol Genet 3:853-60. 1994
    ..Taken together with the completion of a map of the human VH locus on 14q32.3, the total number of VH segments now identified is 117. We can now account for most, if not all human germ-line VH segments...
  59. ncbi request reprint A map of the human immunoglobulin VH locus completed by analysis of the telomeric region of chromosome 14q
    G P Cook
    MRC Laboratory of Molecular Biology, MRC Centre for Protein Engineering, Cambridge, UK
    Nat Genet 7:162-8. 1994
    ....
  60. ncbi request reprint A complete map of the human immunoglobulin VH locus
    I M Tomlinson
    MRC Centre for Protein Engineering, Cambridge, United Kingdom
    Ann N Y Acad Sci 764:43-6. 1995
  61. ncbi request reprint Chromosome-specific paints from a high-resolution flow karyotype of the dog
    C F Langford
    Sanger Centre, Hinxton, Cambridge, UK
    Chromosome Res 4:115-23. 1996
    ..The ability to sort sufficient quantities of dog chromosomes for the production of chromosome-specific DNA libraries has the potential to accelerate the physical and genetic mapping of the dog genome...
  62. ncbi request reprint A novel 5q11.2 deletion detected by microarray comparative genomic hybridisation in a child referred as a case of suspected 22q11 deletion syndrome
    Katrina Prescott
    Molecular Medicine Unit, Institute of Child Health, University College London, 30, Guilford Street, London WC1N 1EH, UK
    Hum Genet 116:83-90. 2005
    ..It is anticipated that array CGH will improve the clinician's capacity to diagnose congenital syndromes with an unknown aetiology...
  63. pmc Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort
    Julia Baptista
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Am J Hum Genet 82:927-36. 2008
    ....
  64. pmc Replication-timing-correlated spatial chromatin arrangements in cancer and in primate interphase nuclei
    Florian Grasser
    Department of Biology II, Human Genetics, Ludwig Maximilians University Munich, Planegg Martinsreid, Germany
    J Cell Sci 121:1876-86. 2008
    ....
  65. pmc An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)
    Vardhman K Rakyan
    Institute of Cell and Molecular Science, Barts and The London, London E1 2AT, United Kingdom
    Genome Res 18:1518-29. 2008
    ....
  66. pmc A novel mechanistic spectrum underlies glaucoma-associated chromosome 6p25 copy number variation
    Bhaskar Chanda
    Departments of Ophthalmology, University of Alberta, Edmonton, Alberta, Canada
    Hum Mol Genet 17:3446-58. 2008
    ..These findings highlight the benefits of undertaking the extensive studies necessary to characterize structural variants at the base pair level...
  67. 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
    ....
  68. ncbi request reprint As normal as normal can be?
    Nigel P Carter
    Nat Genet 36:931-2. 2004
    ..This unexpected level of genome variation has implications for our view of human genetic diversity and phenotypic variation...
  69. ncbi request reprint Combined array-comparative genomic hybridization and single-nucleotide polymorphism-loss of heterozygosity analysis reveals complex changes and multiple forms of chromosomal instability in colorectal cancers
    Michelle Gaasenbeek
    Molecular and Population Genetics Laboratory, London Research Institute, Cancer Research UK, London WC2A 3PX, UK
    Cancer Res 66:3471-9. 2006
    ..These data suggest that CIN is not synonymous with copy number change and some cancers have a specific tendency to whole-chromosome deletion and regain or to mitotic recombination...
  70. ncbi request reprint Cloning of a new familial t(3;8) translocation associated with conventional renal cell carcinoma reveals a 5 kb microdeletion and no gene involved in the rearrangement
    Sandra Rodriguez-Perales
    Cytogenetics Unit, Biotechnology Programme, Centro Nacional de Investigaciones Oncologicas, Madrid, 28029, Spain
    Hum Mol Genet 13:983-90. 2004
    ....
  71. ncbi request reprint Cytometry and genetics
    L Scott Cram
    Bioscience Division, Los Alamos National Laboratory, Los Alamos, New Mexico 87545, USA
    Cytometry A 58:33-6. 2004
  72. ncbi request reprint High-resolution analysis of genomic copy number alterations in bladder cancer by microarray-based comparative genomic hybridization
    Carolyn D Hurst
    Cancer Research UK Clinical Centre, St James s University Hospital, Beckett St, Leeds LS9 7TF, UK
    Oncogene 23:2250-63. 2004
    ..3 being the most frequent. Real-time PCR analysis revealed a novel candidate gene with consistent overexpression in all cell lines with the 6p22.3 amplicon...
  73. ncbi request reprint A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation
    Tristan W McMullan
    Southampton University School of Medicine, Human Genetics Division, Southampton General Hospital, Southampton SO16 6YD, UK
    Hum Genet 110:244-50. 2002
    ..Murine zfh-4 codes for a zinc finger homeodomain protein and is a transcription factor expressed in both muscle and nerve tissue. Human ZFH-4 is therefore a candidate gene for congenital bilateral isolated ptosis...
  74. ncbi request reprint Analysis of ovarian cancer cell lines using array-based comparative genomic hybridization
    Maryou B K Lambros
    Molecular and Population Genetics Laboratory, Cancer Research UK, London, UK
    J Pathol 205:29-40. 2005
    ..Other potential oncogenes, which mapped to regions found by this study, included cyclin E and PIK3C2G. Candidate tumour suppressor genes in regions of loss included CDKN2C, SMAD4-interacting protein and RASSF2...
  75. ncbi request reprint Investigating chromosome organization with genomic microarrays
    Kathryn Woodfine
    Department of Medical and Molecular Genetics, GKT School of Medicine, King s College London, London, SE1 9RT, UK
    Chromosome Res 13:249-57. 2005
    ..Furthermore, by application of S phase fractions to genomic microarrays, replication timing can be estimated. Thus, microarrays can provide new information about chromosome structure and gene regulation...
  76. ncbi request reprint 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...
  77. ncbi request reprint A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance
    Marjolein Kriek
    Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg, 2300 RC, Leiden, The Netherlands
    Hum Genet 120:77-84. 2006
    ..This study highlights the value of using different genomic approaches to unravel chromosomal alterations in order to study their phenotypic impact...
  78. ncbi request reprint Genomic profiling identifies discrete deletions associated with translocations in glioblastoma multiforme
    Paul J Mulholland
    Human Cytogenetics Laboratory, Cancer Research, UK
    Cell Cycle 5:783-91. 2006
    ....
  79. ncbi request reprint Micro-array analyses decipher exceptional complex familial chromosomal rearrangement
    Christine Fauth
    Institut fur Humangenetik, Technische Universitat Munchen, Trogerstr 32, 81675 Munchen, Germany
    Hum Genet 119:145-53. 2006
    ..We detail the most complicated familial complex chromosomal rearrangement reported to date and thus an extreme example of inheritance of chromosomal rearrangements without error in meiotic segregation...
  80. pmc Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination
    Karen J Woodward
    Clinical and Molecular Genetics, Institute of Child Health, London
    Am J Hum Genet 77:966-87. 2005
    ....
  81. ncbi request reprint Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals
    Julia Baptista
    Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, Wiltshire, UK
    Eur J Hum Genet 13:1205-12. 2005
    ..However, phenotypically normal individuals, and phenotypically abnormal individuals may have genes disrupted and therefore inactivated by one of the breakpoints. The significance of these disruptions remains to be determined...
  82. pmc Completing the map of human genetic variation
    Evan E Eichler
    Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA
    Nature 447:161-5. 2007
  83. ncbi request reprint Genome-wide screening of genomic alterations and their clinicopathologic implications in non-small cell lung cancers
    Tae Min Kim
    Department of Microbiology, College of Medicine, Catholic University of Korea, Socho gu, Seoul, Korea
    Clin Cancer Res 11:8235-42. 2005
    ..This study screened the genomic aberrations across the whole genome of non-small cell lung cancer cells with high-resolution and investigated their clinicopathologic implications...
  84. 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
    ..Together, these studies are defining a path for pursuit of a more comprehensive characterization of human genome function...
  85. ncbi request reprint Genomic and protein expression profiling identifies CDK6 as novel independent prognostic marker in medulloblastoma
    Frank Mendrzyk
    Division of Molecular Genetics B060, German Cancer Research Center, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany
    J Clin Oncol 23:8853-62. 2005
    ..Identification of molecular markers for prognosis and development of novel pathogenesis-based therapies depends crucially on a better understanding of medulloblastoma pathomechanisms...
  86. ncbi request reprint The new cytogenetics: blurring the boundaries with molecular biology
    Michael R Speicher
    Institut fur Humangenetik, Technische Universitat Munchen, Germany
    Nat Rev Genet 6:782-92. 2005
    ..The high resolution that is achieved by these techniques, particularly by microarray technologies such as array comparative genomic hybridization, is blurring the traditional distinction between cytogenetics and molecular biology...
  87. pmc Challenges and standards in integrating surveys of structural variation
    Stephen W Scherer
    The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14 701, Ontario M5G 1L7, Canada
    Nat Genet 39:S7-15. 2007
    ..From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research...
  88. pmc Paired-end mapping reveals extensive structural variation in the human genome
    Jan O Korbel
    Molecular Biophysics and Biochemistry Department, Yale University, New Haven, CT 06520, USA
    Science 318:420-6. 2007
    ..The breakpoint junction sequences of more than 200 SVs were determined with a novel pooling strategy and computational analysis. Our analysis provided insights into the mechanisms of SV formation in humans...
  89. pmc Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12
    Bjorn Menten
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Eur J Med Genet 50:446-54. 2007
    ..3 breakpoint was assigned to a non-coding segment within a gene dense region. Disruption of OPHN1 by the Xq12 breakpoint was considered the major cause of the abnormal phenotype observed in the proband...
  90. ncbi request reprint Chromatin architecture of the human genome: gene-rich domains are enriched in open chromatin fibers
    Nick Gilbert
    MRC Human Genetics Unit, Edinburgh, EH4 2XU, Scotland
    Cell 118:555-66. 2004
    ..We suggest that domains of open chromatin may create an environment that facilitates transcriptional activation and could provide an evolutionary constraint to maintain clusters of genes together along chromosomes...
  91. ncbi request reprint Array-CGH analysis of microsatellite-stable, near-diploid bowel cancers and comparison with other types of colorectal carcinoma
    Angela M Jones
    Molecular and Population Genetics Laboratory, Cancer Research UK, 44 Lincoln s Inn Fields, London WC2A 3PX, UK
    Oncogene 24:118-29. 2005
    ..In conclusion, our data support the suggestion that some MSI-CIN- carcinomas form a qualitatively different group from the other cancer types, and also suggest that the MSI-CIN- group is itself heterogeneous...
  92. pmc Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16
    Irina Balikova
    Center for Human Genetics, University of Leuven, 3000 Leuven, Belgium
    Am J Hum Genet 82:181-7. 2008
    ..This is the first example of an amplified CNV associated with a Mendelian disorder, a discovery that implies that genome screens for genetic disorders should include the analysis of so-called benign CNVs and LCRs...
  93. pmc Characterization of a 3;6 translocation associated with renal cell carcinoma
    Rebecca E Foster
    Department of Medical and Molecular Genetics, University of Birmingham, The Medical School, Birmingham B15 2TT, UK
    Genes Chromosomes Cancer 46:311-7. 2007
    ..No known genes were disrupted by the translocation breakpoints but several candidate TSGs (e.g., EPHB1, EPHA7, PPP2R3A RNF184, and STAG1) map within close proximity to the breakpoints...
  94. ncbi request reprint Construction and integration of radiation-hybrid and cytogenetic maps of dog Chromosome X
    Helen F Spriggs
    Animal Health Trust, Lanwades Park, Kentford, Newmarket, Suffolk, CB8 7UU, UK
    Mamm Genome 14:214-21. 2003
    ..The data suggest strongly conserved synteny between canine and human X Chrs. The pseudoautosomal region has been further characterized, and the putative or actual locations of nine genes of clinical relevance have been suggested...
  95. pmc Radial chromatin positioning is shaped by local gene density, not by gene expression
    Katrin Küpper
    Department of Biology II, Anthropology and Human Genetics, Ludwig Maximilians University, Munich, Germany
    Chromosoma 116:285-306. 2007
    ..5 often loops out from the territory surface, gene-dense and highly expressed sequences were not generally found preferentially at the CT surface as previously suggested...
  96. pmc Diet and the evolution of human amylase gene copy number variation
    George H Perry
    School of Human Evolution and Social Change, Arizona State University, Tempe, Arizona 85287, USA
    Nat Genet 39:1256-60. 2007
    ..Higher AMY1 copy numbers and protein levels probably improve the digestion of starchy foods and may buffer against the fitness-reducing effects of intestinal disease...
  97. ncbi request reprint A high-resolution survey of deletion polymorphism in the human genome
    Donald F Conrad
    Department of Human Genetics, The University of Chicago, 920 East 58th Street, Chicago, Illinois 60637, USA
    Nat Genet 38:75-81. 2006
    ..Our new method will permit the identification of deletion polymorphisms in high-density SNP surveys of trio or other family data...
  98. pmc Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
    Jeanne Amiel
    From the Departments of Genetics, Pediatric Radiology and INSERM U 797, Universite Paris Descartes, Faculte de Medecine, Hopitaux de Paris, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 80:988-93. 2007
    ..Moreover, our data may shed new light on the normal processes underlying autonomic nervous system development and maintenance of an appropriate ventilatory neuronal circuitry...
  99. pmc A second generation human haplotype map of over 3.1 million SNPs
    Kelly A Frazer
    The Scripps Research Institute, 10550 North Torrey Pines Road MEM275, La Jolla, California 92037, USA
    Nature 449:851-61. 2007
    ..Finally, we demonstrate increased differentiation at non-synonymous, compared to synonymous, SNPs, resulting from systematic differences in the strength or efficacy of natural selection between populations...