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There are 16662 results for: content related to: Sharing data between LSDBs and central repositories

  1. You have free access to this content
    Guidelines for establishing locus specific databases

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 298–305, Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish and Richard G. H. Cotton

    Article first published online : 9 DEC 2011, DOI: 10.1002/humu.21646

  2. You have full text access to this OnlineOpen article
    LOVD v.2.0: the next generation in gene variant databases

    Human Mutation

    Volume 32, Issue 5, May 2011, Pages: 557–563, Ivo F. A. C. Fokkema, Peter E. M. Taschner, Gerard C. P. Schaafsma, J. Celli, Jeroen F. J. Laros and Johan T. den Dunnen

    Article first published online : 22 FEB 2011, DOI: 10.1002/humu.21438

  3. You have full text access to this OnlineOpen article
    Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

    Human Mutation

    Volume 31, Issue 11, November 2010, Pages: 1179–1184, 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 and Richard G.H. Cotton

    Article first published online : 28 OCT 2010, DOI: 10.1002/humu.21339

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    Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

    Human Mutation

    Volume 29, Issue 11, November 2008, Pages: 1273–1281, Marc S. Greenblatt, Lawrence C. Brody, William D. Foulkes, Maurizio Genuardi, Robert M.W. Hofstra, Magali Olivier, Sharon E. Plon, Rolf H. Sijmons, Olga Sinilnikova and Amanda B. Spurdle

    Article first published online : 24 OCT 2008, DOI: 10.1002/humu.20889

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    Planning the Human Variome Project: The Spain report

    Human Mutation

    Volume 30, Issue 4, April 2009, Pages: 496–510, Jim Kaput, Richard G.H. Cotton, Lauren Hardman, Michael Watson, Aida I. Al Aqeel, Jumana Y. Al-Aama, Fahd Al-Mulla, Santos Alonso, Stefan Aretz, Arleen D. Auerbach, Bharati Bapat, Inge T. Bernstein, Jong Bhak, Stacey L. Bleoo, Helmut Blöcker, Steven E. Brenner, John Burn, Mariona Bustamante, Rita Calzone, Anne Cambon-Thomsen, Michele Cargill, Paola Carrera, Lawrence Cavedon, Yoon Shin Cho, Yeun-Jun Chung, Mireille Claustres, Garry Cutting, Raymond Dalgleish, Johan T. den Dunnen, Carlos Díaz, Steven Dobrowolski, M. Rosário N. dos Santos, Rosemary Ekong, Simon B. Flanagan, Paul Flicek, Yoichi Furukawa, Maurizio Genuardi, Ho Ghang, Maria V. Golubenko, Marc S. Greenblatt, Ada Hamosh, John M. Hancock, Ross Hardison, Terence M. Harrison, Robert Hoffmann, Rania Horaitis, Heather J. Howard, Carol Isaacson Barash, Neskuts Izagirre, Jongsun Jung, Toshio Kojima, Sandrine Laradi, Yeon-Su Lee, Jong-Young Lee, Vera L. Gil-da-Silva-Lopes, Finlay A. Macrae, Donna Maglott, Makia J. Marafie, Steven G.E. Marsh, Yoichi Matsubara, Ludwine M. Messiaen, Gabriela Möslein, Mihai G. Netea, Melissa L. Norton, Peter J. Oefner, William S. Oetting, James C. O'Leary, Ana Maria Oller de Ramirez, Mark H. Paalman, Jillian Parboosingh, George P. Patrinos, Giuditta Perozzi, Ian R. Phillips, Sue Povey, Suyash Prasad, Ming Qi, David J. Quin, Rajkumar S. Ramesar, C. Sue Richards, Judith Savige, Dagmar G. Scheible, Rodney J. Scott, Daniela Seminara, Elizabeth A. Shephard, Rolf H. Sijmons, Timothy D. Smith, María-Jesús Sobrido, Toshihiro Tanaka, Sean V. Tavtigian, Graham R. Taylor, Jon Teague, Thoralf Töpel, Mollie Ullman-Cullere, Joji Utsunomiya, Henk J. van Kranen, Mauno Vihinen, Elizabeth Webb, Thomas K. Weber, Meredith Yeager, Young I. Yeom, Seon-Hee Yim and Hyang-Sook Yoo

    Article first published online : 20 JAN 2009, DOI: 10.1002/humu.20972

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    The challenge of documenting mutation across the genome: The human genome variation society approach

    Human Mutation

    Volume 23, Issue 5, May 2004, Pages: 447–452, Ourania Horaitis and Richard G. H. Cotton

    Article first published online : 19 MAR 2004, DOI: 10.1002/humu.20038

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    Somatic mutation databases as tools for molecular epidemiology and molecular pathology of cancer: Proposed guidelines for improving data collection, distribution, and integration

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 275–282, M. Olivier, A. Petitjean, J. Teague, S. Forbes, J.K. Dunnick, J.T. den Dunnen, A. Langerød, J.M. Wilkinson, M. Vihinen, R.G.H. Cotton and P. Hainaut

    Article first published online : 12 NOV 2008, DOI: 10.1002/humu.20832

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    Curating gene variant databases (LSDBs): Toward a universal standard

    Human Mutation

    Volume 33, Issue 2, February 2012, Pages: 291–297, Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner and Johan T. den Dunnen

    Article first published online : 3 NOV 2011, DOI: 10.1002/humu.21626

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    DRUMS: A human disease related unique gene mutation search engine

    Human Mutation

    Volume 32, Issue 10, October 2011, Pages: E2259–E2265, Zuofeng Li, Xingnan Liu, Jingran Wen, Ye Xu, Xin Zhao, Xuan Li, Lei Liu and Xiaoyan Zhang

    Article first published online : 19 SEP 2011, DOI: 10.1002/humu.21556

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    A1ATVar: a relational database of human SERPINA1 gene variants leading to α1-antitrypsin deficiency and application of the VariVis software

    Human Mutation

    Volume 30, Issue 3, March 2009, Pages: 308–313, Sophia Zaimidou, Sjozef van Baal, Timothy D. Smith, Konstantinos Mitropoulos, Mila Ljujic, Dragica Radojkovic, Richard G. Cotton and George P. Patrinos

    Article first published online : 19 NOV 2008, DOI: 10.1002/humu.20857

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    Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domain

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1503–1512, George P. Patrinos, David N. Cooper, Erik van Mulligen, Vassiliki Gkantouna, Giannis Tzimas, Zuotian Tatum, Erik Schultes, Marco Roos and Barend Mons

    Article first published online : 23 JUL 2012, DOI: 10.1002/humu.22144

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    Human Mutation: The official journal of the Human Genome Variation Society (HGVS)

    Human Mutation

    Volume 19, Issue 1, January 2002, Page: 1, Richard G.H. Cotton and Haig H. Kazazian Jr

    Article first published online : 12 DEC 2001, DOI: 10.1002/humu.10037

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    Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 766–778, Thierry Soussi, Bernard Leroy and Peter E.M. Taschner

    Article first published online : 6 MAY 2014, DOI: 10.1002/humu.22561

  14. National and ethnic mutation databases: recording populations' genography

    Human Mutation

    Volume 27, Issue 9, September 2006, Pages: 879–887, George P. Patrinos

    Article first published online : 25 JUL 2006, DOI: 10.1002/humu.20376

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    Locus-Specific Databases in Cancer: What Future in a Post-Genomic Era? The TP53 LSDB paradigm

    Human Mutation

    Volume 35, Issue 6, June 2014, Pages: 643–653, Thierry Soussi

    Article first published online : 5 MAR 2014, DOI: 10.1002/humu.22518

  16. You have free access to this content
    How to catch all those mutations—the report of the Third Human Variome Project Meeting, UNESCO Paris, May 2010

    Human Mutation

    Volume 31, Issue 12, December 2010, Pages: 1374–1381, Maija R.J. Kohonen-Corish, Jumana Y. Al-Aama, Arleen D. Auerbach, Myles Axton, Carol Isaacson Barash, Inge Bernstein, Christophe Béroud, John Burn, Fiona Cunningham, Garry R. Cutting, Johan T. den Dunnen, Marc S. Greenblatt, Jim Kaput, Michael Katz, Annika Lindblom, Finlay Macrae, Donna Maglott, Gabriela Möslein, Sue Povey, Raj Ramesar, Sue Richards, Daniela Seminara, María-Jesús Sobrido, Sean Tavtigian, Graham Taylor, Mauno Vihinen, Ingrid Winship, Richard G.H. Cotton and on behalf of contributors to the Human Variome Project Meeting

    Article first published online : 22 NOV 2010, DOI: 10.1002/humu.21379

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    Human variome project country nodes: Documenting genetic information within a country

    Human Mutation

    Volume 33, Issue 11, November 2012, Pages: 1513–1519, George P. Patrinos, Timothy D. Smith, Heather Howard, Fahd Al-Mulla, Lotfi Chouchane, Andreas Hadjisavvas, Sherifa A. Hamed, Xi-Tao Li, Makia Marafie, Rajkumar S. Ramesar, Feliciano J. Ramos, Thomy de Ravel, Mona O. El-Ruby, Tilak Ram Shrestha, María-Jesús Sobrido, Ghazi Tadmouri, Martina Witsch-Baumgartner, Bin Alwi Zilfalil, Arleen D. Auerbach, Kevin Carpenter, Garry R. Cutting, Vu Chi Dung, Wayne Grody, Julia Hasler, Lynn Jorde, Jim Kaput, Milan Macek, Yoichi Matsubara, Carmancita Padilla, Helen Robinson, Augusto Rojas-Martinez, Graham R. Taylor, Mauno Vihinen, Tom Weber, John Burn, Ming Qi, Richard G. H. Cotton, David Rimoin and (International Confederation of Countries Advisory Council)

    Article first published online : 18 JUL 2012, DOI: 10.1002/humu.22147

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    Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

    Human Mutation

    Volume 29, Issue 1, January 2008, Pages: 6–13, Martin Wildeman, Ernest van Ophuizen, Johan T. den Dunnen and Peter E.M. Taschner

    Article first published online : 13 NOV 2007, DOI: 10.1002/humu.20654

  19. You have free access to this content
    WAVe: web analysis of the variome

    Human Mutation

    Volume 32, Issue 7, July 2011, Pages: 729–734, Pedro Lopes, Raymond Dalgleish and José Luís Oliveira

    Article first published online : 7 APR 2011, DOI: 10.1002/humu.21499

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    Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting

    Human Mutation

    Volume 33, Issue 3, March 2012, Pages: 586–590, William S. Oetting

    Article first published online : 31 JAN 2012, DOI: 10.1002/humu.22018