Special Article

You have free access to this content

Sharing data between LSDBs and central repositories†

  1. Johan T. den Dunnen1,*,
  2. Rolf H. Sijmons2,
  3. Paal S. Andersen3,
  4. Mauno Vihinen4,5,
  5. Jacques S. Beckmann6,
  6. Sandro Rossetti7,
  7. C. Conover Talbot Jr8,
  8. Ross C. Hardison9,
  9. Sue Povey10,
  10. Richard G.H. Cotton11,12,13

Article first published online: 20 JAN 2009

DOI: 10.1002/humu.20977

Issue

Human Mutation

Human Mutation

Volume 30, Issue 4, pages 493–495, April 2009

Additional Information

How to Cite

den Dunnen, J. T., Sijmons, R. H., Andersen, P. S., Vihinen, M., Beckmann, J. S., Rossetti, S., Talbot, C. C., Hardison, R. C., Povey, S. and Cotton, R. G.H. (2009), Sharing data between LSDBs and central repositories. Hum. Mutat., 30: 493–495. doi: 10.1002/humu.20977

Author Information

  1. 1

    Leiden University Medical Center, Albinusdreef 2, Leiden, The Netherlands

  2. 2

    Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands

  3. 3

    National Center for Antimicrobials and Infection Control, Statens Serum Institute, Copenhagen, Denmark

  4. 4

    Insitute of Medical Technology, FI-33014 University of Tampere, Finland

  5. 5

    Tampere University Hospital, FI-33520 Tampere, Finland

  6. 6

    Service and Department of Medical Genetics, CHUV-UNIL, Lausanne, Switzerland

  7. 7

    Nephrology Research, Mayo Clinic College of Medicine, Rochester Minnesota

  8. 8

    The Johns Hopkins University School of Medicine, Baltimore, Maryland

  9. 9

    Center for Comparative Genomics and Bioinformatics, Huck Institutes of the Life Sciences, Pennsylvania State University, University Park, Pennsylvania

  10. 10

    Department of Genetics, Evolution and Environment, University College London, London, United Kingdom

  11. 11

    Genomic Disorders, VIC 3053, Australia

  12. 12

    Research Centre, VIC 3053, Australia

  13. 13

    Department of Medicine, The University of Melbourne, Parkville, VIC 3010, Australia

*LUMC, Albinusdreef 2, P.O. Box 9600, Zone S04-030, 2300 RC Leiden, The Netherlands

  1. †

    Communicated by Mark Paalman

Publication History

  1. Issue published online: 20 MAR 2009
  2. Article first published online: 20 JAN 2009
  3. Accepted manuscript online: 20 JAN 2009 12:00AM EST
  4. Manuscript Accepted: 20 DEC 2008
  5. Manuscript Received: 18 NOV 2008

SEARCH

SEARCH BY CITATION

ARTICLE TOOLS

Get PDF (115K)

Cited in:

CrossRef

This article has been cited by:

  1. You have free access to this content1
    Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner, Johan T. den Dunnen, Curating gene variant databases (LSDBs): Toward a universal standard, Human Mutation, 2012, 33, 2
    Direct Link:
  2. You have free access to this content2
    Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G. H. Cotton, Guidelines for establishing locus specific databases, Human Mutation, 2012, 33, 2
    Direct Link:
  3. 3
    Achille Zappa, Andrea Splendiani, Paolo Romano, Towards linked open gene mutations data, BMC Bioinformatics, 2012, 13, Suppl 4, S7

    CrossRef

  4. You have free access to this content4
    Zuofeng Li, Xingnan Liu, Jingran Wen, Ye Xu, Xin Zhao, Xuan Li, Lei Liu, Xiaoyan Zhang, DRUMS: A human disease related unique gene mutation search engine, Human Mutation, 2011, 32, 10
    Direct Link:
  5. 5
    Ivo F. A. C. Fokkema, Peter E. M. Taschner, Gerard C. P. Schaafsma, J. Celli, Jeroen F. J. Laros, Johan T. den Dunnen, LOVD v.2.0: the next generation in gene variant databases, Human Mutation, 2011, 32, 5
    Direct Link:
  6. 6
    Pedro Lopes, Raymond Dalgleish, José Luís Oliveira, WAVe: web analysis of the variome, Human Mutation, 2011, 32, 7
    Direct Link:
  7. 7
    Sue Povey, Aida I. Al Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T. den Dunnen, Helen V. Firth, Marc S. Greenblatt, Carol Isaacson Barash, Michael Parker, George P. Patrinos, Judith Savige, Maria-Jesus Sobrido, Ingrid Winship, Richard G.H. Cotton, Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs), Human Mutation, 2010, 31, 11
    Direct Link:
  8. 8
    Richard G H Cotton, Aida I Al Aqeel, Fahd Al-Mulla, Paola Carrera, Mireille Claustres, Rosemary Ekong, Valentine J Hyland, Finlay A Macrae, Makia J Marafie, Mark H Paalman, George P Patrinos, Ming Qi, Rajkumar S Ramesar, Rodney J Scott, Rolf H Sijmons, María-Jesús Sobrido, Mauno Vihinen, Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project, Genetics in Medicine, 2009, 11, 12, 843

    CrossRef

  9. 9
    P. Flicek, B. L. Aken, B. Ballester, K. Beal, E. Bragin, S. Brent, Y. Chen, P. Clapham, G. Coates, S. Fairley, S. Fitzgerald, J. Fernandez-Banet, L. Gordon, S. Graf, S. Haider, M. Hammond, K. Howe, A. Jenkinson, N. Johnson, A. Kahari, D. Keefe, S. Keenan, R. Kinsella, F. Kokocinski, G. Koscielny, E. Kulesha, D. Lawson, I. Longden, T. Massingham, W. McLaren, K. Megy, B. Overduin, B. Pritchard, D. Rios, M. Ruffier, M. Schuster, G. Slater, D. Smedley, G. Spudich, Y. A. Tang, S. Trevanion, A. Vilella, J. Vogel, S. White, S. P. Wilder, A. Zadissa, E. Birney, F. Cunningham, I. Dunham, R. Durbin, X. M. Fernandez-Suarez, J. Herrero, T. J. P. Hubbard, A. Parker, G. Proctor, J. Smith, S. M. J. Searle, Ensembl's 10th year, Nucleic Acids Research, 2009, 38, Database, D557

    CrossRef

Get PDF (115K)