R G H Cotton

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. pmc Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning
    Tania Tabone
    Genomic Disorders Research Centre Fitzroy, Victoria 3065, Australia
    Nucleic Acids Res 34:e45. 2006
  2. pmc VariVis: a visualisation toolkit for variation databases
    Timothy D Smith
    Genomic Disorders Research Centre, Carlton South, VIC 3053, Australia
    BMC Bioinformatics 9:206. 2008
  3. ncbi request reprint Recommendations of the 2006 Human Variome Project meeting
    Richard G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia
    Nat Genet 39:433-6. 2007
  4. ncbi request reprint A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases
    R G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Victoria, Australia
    Hum Mutat 28:931-2. 2007
  5. pmc Recommendations for locus-specific databases and their curation
    R G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Australia
    Hum Mutat 29:2-5. 2008
  6. pmc GENETICS. The Human Variome Project
    Richard G H Cotton
    Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia
    Science 322:861-2. 2008
  7. doi request reprint Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
    Richard G H Cotton
    Genomic Disorders Research Centre, Melbourne, Australia
    Genet Med 11:843-9. 2009
  8. ncbi request reprint Locus-specific databases: from ethical principles to practice
    Richard G H Cotton
    Genomic Disorders Research Centre, Melbourne, Australia
    Hum Mutat 26:489-93. 2005
  9. doi request reprint Human mutation databases
    Ourania Horaitis
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne Fitzroy, Australia
    Curr Protoc Bioinformatics . 2005
  10. ncbi request reprint The HUGO Mutation Database Initiative. Human Genome Organization
    R G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Australia
    Pharmacogenomics J 2:16-9. 2002

Detail Information

Publications35

  1. pmc Detection of 100% of mutations in 124 individuals using a standard UV/Vis microplate reader: a novel concept for mutation scanning
    Tania Tabone
    Genomic Disorders Research Centre Fitzroy, Victoria 3065, Australia
    Nucleic Acids Res 34:e45. 2006
    ....
  2. pmc VariVis: a visualisation toolkit for variation databases
    Timothy D Smith
    Genomic Disorders Research Centre, Carlton South, VIC 3053, Australia
    BMC Bioinformatics 9:206. 2008
    ..However, the data presentation techniques employed by most of these databases make them difficult to use and understand...
  3. ncbi request reprint Recommendations of the 2006 Human Variome Project meeting
    Richard G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, 35 Victoria Parade, Melbourne, Victoria 3065, Australia
    Nat Genet 39:433-6. 2007
    ..Here we summarize the background of the project, the meeting and its recommendations...
  4. ncbi request reprint A structured simple form for ordering genetic tests is needed to ensure coupling of clinical detail (phenotype) with DNA variants (genotype) to ensure utility in publication and databases
    R G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Victoria, Australia
    Hum Mutat 28:931-2. 2007
    ..2007]. We call for comment and collaboration in this article...
  5. pmc Recommendations for locus-specific databases and their curation
    R G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Australia
    Hum Mutat 29:2-5. 2008
    ..This work initiates a discussion on this topic to assist future efforts in human genetics. Further discussion is welcome...
  6. pmc GENETICS. The Human Variome Project
    Richard G H Cotton
    Genomic Disorders Research Centre, Howard Florey Institute, Melbourne, Australia
    Science 322:861-2. 2008
    ..An ambitious plan to collect, curate, and make accessible information on genetic variations affecting human health is beginning to be realized...
  7. doi request reprint Capturing all disease-causing mutations for clinical and research use: toward an effortless system for the Human Variome Project
    Richard G H Cotton
    Genomic Disorders Research Centre, Melbourne, Australia
    Genet Med 11:843-9. 2009
    ..This manuscript discusses how collection of such data may be facilitated through new software and strategies in the clinical genetics and diagnostic laboratory communities...
  8. ncbi request reprint Locus-specific databases: from ethical principles to practice
    Richard G H Cotton
    Genomic Disorders Research Centre, Melbourne, Australia
    Hum Mutat 26:489-93. 2005
    ..It aims to translate them into 12 proposed practical guidelines that LSDB curators can use in collecting data for clinical research. Perhaps these guideposts will serve as a first step toward translating principles into practice...
  9. doi request reprint Human mutation databases
    Ourania Horaitis
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne Fitzroy, Australia
    Curr Protoc Bioinformatics . 2005
    ..The second section deals with submitting data. The third part provides guidance for accessing mutation data. The final section offers advice on database construction...
  10. ncbi request reprint The HUGO Mutation Database Initiative. Human Genome Organization
    R G H Cotton
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy, Australia
    Pharmacogenomics J 2:16-9. 2002
  11. ncbi request reprint Permanganate oxidation reactions of DNA: perspective in biological studies
    Chinh T Bui
    Genomic Disorders Research Centre, The University of Melbourne, St Vincent Hospital, Fitzroy, Melbourne, Australia
    Nucleosides Nucleotides Nucleic Acids 22:1835-55. 2003
    ..This paper aims to review the usefulness and limitations of the permanganate oxidation reaction used in various biological studies of DNA...
  12. ncbi request reprint Detection of mutations in DNA by solid-phase chemical cleavage method. A simplified assay
    Chinh T Bui
    Genomic Disorders Research Centre, St Vincent s Hospital, Melbourne, Victoria, Australia
    Methods Mol Biol 212:59-70. 2003
  13. ncbi request reprint Spectroscopic study of permanganate oxidation reactions of oligonucleotides containing single base mismatches
    Chinh T Bui
    Genomic Disorders Research Centre, University of Melbourne, 7th Floor, Daly Wing, St Vincent Hospital, 35 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia
    Biopolymers 70:628-36. 2003
    ....
  14. ncbi request reprint Site-selective reactions of imperfectly matched DNA with small chemical molecules: applications in mutation detection
    Chinh T Bui
    Genomic Disorders Research Centre, The University of Melbourne, 7th Floor, Daly Wing, 35 Victoria Parade, Fitzroy, VIC 3065, Melbourne, Australia
    Bioorg Chem 30:216-32. 2002
    ....
  15. ncbi request reprint Comparative study of permanganate oxidation reactions of nucleotide bases by spectroscopy
    Chinh T Bui
    Genomic Disorders Research Centre, University of Melbourne, 7th Floor, Daly Wing, 41 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia
    Bioorg Chem 30:133-7. 2002
    ..The reaction was highly selective toward thymine and uracil, less with cytosine, very little reaction on guanine, and no reaction on adenine...
  16. ncbi request reprint UV-visible spectral identification of the solution-phase and solid-phase permanganate oxidation reactions of thymine acetic acid
    Chinh T Bui
    Genomic Disorders Research Centre and the University of Melbourne, 7th Floor, Daly Wing, St Vincent Hospital, 35 Victoria Parade, Fitzroy, Melbourne, Victoria 3065, Australia
    Bioorg Med Chem Lett 14:1313-5. 2004
    ..This result enables unambiguous interpretation of the absorbance change at 420 nm, as the intermediate permanganate ions could be isolated on the solid supports...
  17. doi request reprint The Human Variome Project (HVP) 2009 Forum "Towards Establishing Standards"
    Heather J Howard
    Genomic Disorders Research Centre, Carlton South, Victoria, Australia
    Hum Mutat 31:366-7. 2010
    ..Methods for researchers to receive credit for their effort at mutation detection were also discussed...
  18. doi request reprint The chemical cleavage of mismatch for the detection of mutations in long DNA fragments
    Tania Tabone
    Ludwig Institute for Cancer Research, Parkville, Victoria, Australia
    Methods Mol Biol 578:223-34. 2009
    ..Cleavage products are separated by electrophoresis, revealing the identity and location of the mutation. The chemical cleavage of mismatch method can efficiently detect point mutations as well as insertions and deletions...
  19. doi request reprint Mismatch oxidation assay: detection of DNA mutations using a standard UV/Vis microplate reader
    Tania Tabone
    Ludwig Institute for Cancer Research, Parkville, Victoria, Australia
    Methods Mol Biol 578:235-42. 2009
    ....
  20. ncbi request reprint The challenge of documenting mutation across the genome: the human genome variation society approach
    Ourania Horaitis
    Genomic Disorders Research Centre, Melbourne, Australia
    Hum Mutat 23:447-52. 2004
    ..Other projects, such as dedicated specialized software for LSDBs, are in the early stages of development...
  21. ncbi request reprint Time for a unified system of mutation description and reporting: a review of locus-specific mutation databases
    Mireille Claustres
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne, Fitzroy VIC 3065, Australia
    Genome Res 12:680-8. 2002
    ..We hope the interested community and granting bodies will assist in achieving the vision of a public system that collects and displays all variants discovered...
  22. ncbi request reprint Variations of the human glucocorticoid receptor gene (NR3C1): pathological and in vitro mutations and polymorphisms
    Paula J Bray
    Genomic Disorders Research Centre, St Vincent s Hospital, Fitzroy, Victoria, Australia
    Hum Mutat 21:557-68. 2003
    ..Mutation and polymorphism data for NR3C1 will soon be found on the newly created locus-specific database...
  23. ncbi request reprint Plastic contaminant masquerades as DNA in mutation detection by denaturing HPLC
    Eric M Glare
    Department of Medicine, University of Melbourne, Melbourne, Australia
    Biotechniques 34:59-60. 2003
  24. doi request reprint Human mutation databases
    Ourania Horaitis
    Genomic Disorders Research Centre, St Vincent s Hospital Melbourne Fitzroy, Australia
    Curr Protoc Hum Genet . 2005
    ..The second section deals with submitting data. The third part provides guidance for accessing mutation data. The final section offers advice on database construction...
  25. ncbi request reprint Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC
    Georgina B Sallmann
    Genomic Disorders Research Centre, St Vincent s Hospital, Victoria, Australia
    Ophthalmic Genet 27:43-9. 2006
    ..Some subjects with nystagmus lack convincing signs of albinism, have no other visual pathway disease, and are classified as possessing congenital idiopathic nystagmus (CN). It has been postulated that CN may be a form of ocular albinism...
  26. pmc A survey of locus-specific database curation. Human Genome Variation Society
    Richard G H Cotton
    J Med Genet 44:e72. 2007
    ..4. Hits per week on the website should be recorded to allow the importance of the site to be illustrated for grant-giving purposes. 5. Published protocols should be followed in the establishment of locus-specific databases...
  27. ncbi request reprint A database of locus-specific databases
    Ourania Horaitis
    Nat Genet 39:425. 2007
  28. ncbi request reprint Spontaneous DNA-DNA interaction of homologous duplexes and factors affecting the result of heteroduplex formation
    Anna A Neschastnova
    Institute of Carcinogenesis, Blokhin Cancer Research Centre, Russian Academy of Medical Sciences, Kashirskoye shosse 24, Moscow 115478, Russia
    Biol Chem 387:257-61. 2006
    ..This provides the theoretical background for further optimisation of the procedure...
  29. ncbi request reprint Human Variome Project: an international collaboration to catalogue human genetic variation
    Huijun Z Ring
    Division of Clinical Pharmacology, University of California, San Francisco, CA 94143, USA
    Pharmacogenomics 7:969-72. 2006
  30. ncbi request reprint Mutations causing inherited disease and cancer affect individuals and families
    Richard G H Cotton
    Genet Med 8:389. 2006
  31. pmc Human mutation databases
    Richard G H Cotton
    Hum Genomics 2:272; author reply 272-3. 2006
  32. ncbi request reprint The WayStation: the novel way for the collection of pancreatitis-associated mutations
    Niels Teich
    Universitatsklinikum Leipzig, Medizinische Klinik und Poliklinik II, Leipzig, Germany
    Pancreatology 4:249-50. 2004
  33. ncbi request reprint A call for mutations
    Richard G H Cotton
    Genet Med 7:370. 2005