Search Results

There are 66146 results for: content related to: Integration of global resources for human genetic variation and disease

  1. You have free access to this content
    ZFIN, The zebrafish model organism database: Updates and new directions


    Volume 53, Issue 8, August 2015, Pages: 498–509, Leyla Ruzicka, Yvonne M. Bradford, Ken Frazer, Douglas G. Howe, Holly Paddock, Sridhar Ramachandran, Amy Singer, Sabrina Toro, Ceri E. Van Slyke, Anne E. Eagle, David Fashena, Patrick Kalita, Jonathan Knight, Prita Mani, Ryan Martin, Sierra A.T. Moxon, Christian Pich, Kevin Schaper, Xiang Shao and Monte Westerfield

    Version of Record online : 8 JUL 2015, DOI: 10.1002/dvg.22868

  2. You have free access to this content
    Phenotypic information in genomic variant databases enhances clinical care and research: The international standards for cytogenomic arrays consortium experience

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 787–796, Erin Rooney Riggs, Laird Jackson, David T. Miller and Steven Van Vooren

    Version of Record online : 20 MAR 2012, DOI: 10.1002/humu.22052

  3. You have free access to this content
    Getting Ready for the Human Phenome Project: The 2012 Forum of the Human Variome Project

    Human Mutation

    Volume 34, Issue 4, April 2013, Pages: 661–666, William S. Oetting, Peter N. Robinson, Marc S. Greenblatt, Richard G. Cotton, Tim Beck, John C. Carey, Sandra C. Doelken, Marta Girdea, Tudor Groza, Carol M. Hamilton, Ada Hamosh, Berit Kerner, Jacqueline A. L. MacArthur, Donna R. Maglott, Barend Mons, Heidi L. Rehm, Paul N. Schofield, Beverly A. Searle, Damian Smedley, Cynthia L. Smith, Inge Thomsen Bernstein, Andreas Zankl and Eric Y. Zhao

    Version of Record online : 20 MAR 2013, DOI: 10.1002/humu.22293

  4. You have free access to this content
    Mouse genetic and phenotypic resources for human genetics

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 826–836, Paul N. Schofield, Robert Hoehndorf and Georgios V. Gkoutos

    Version of Record online : 13 APR 2012, DOI: 10.1002/humu.22077

  5. You have free access to this content
    An XML-based interchange format for genotype–phenotype data

    Human Mutation

    Volume 29, Issue 2, February 2008, Pages: 212–219, M. Whirl-Carrillo, M. Woon, C.F. Thorn, T.E. Klein and R.B. Altman

    Version of Record online : 9 NOV 2007, DOI: 10.1002/humu.20662

  6. You have free access to this content
    Deep phenotyping for precision medicine

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 777–780, Peter N. Robinson

    Version of Record online : 13 APR 2012, DOI: 10.1002/humu.22080

  7. You have free access to this content
    MouseFinder: Candidate disease genes from mouse phenotype data

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 858–866, Chao-Kung Chen, Christopher J. Mungall, Georgios V. Gkoutos, Sandra C. Doelken, Sebastian Köhler, Barbara J. Ruef, Cynthia Smith, Monte Westerfield, Peter N. Robinson, Suzanna E. Lewis, Paul N. Schofield and Damian Smedley

    Version of Record online : 16 MAR 2012, DOI: 10.1002/humu.22051

  8. Integration of Genomic and Phenotypic Data

    Data Analysis and Visualization in Genomics and Proteomics

    Francisco Azuaje, Joaquín Dopazo, Pages: 83–97, 2005

    Published Online : 15 JUN 2005, DOI: 10.1002/0470094419.ch6

  9. You have free access to this content
    GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 974–978, Brianne E. Kirkpatrick, Erin Rooney Riggs, Danielle R. Azzariti, Vanessa Rangel Miller, David H. Ledbetter, David T. Miller, Heidi Rehm, Christa Lese Martin, W. Andrew Faucett and On Behalf of the ClinGen Resource

    Version of Record online : 6 AUG 2015, DOI: 10.1002/humu.22838

  10. You have free access to this content
    Observ-OM and Observ-TAB: Universal syntax solutions for the integration, search, and exchange of phenotype and genotype information

    Human Mutation

    Volume 33, Issue 5, May 2012, Pages: 867–873, Tomasz Adamusiak, Helen Parkinson, Juha Muilu, Erik Roos, Kasper Joeri van der Velde, Gudmundur A. Thorisson, Myles Byrne, Chao Pang, Sirisha Gollapudi, Vincent Ferretti, Hans Hillege, Anthony J. Brookes and Morris A. Swertz

    Version of Record online : 4 APR 2012, DOI: 10.1002/humu.22070

  11. You have free access to this content
    Re-analysis of data and its integration

    FEBS Letters

    Volume 579, Issue 8, March 21, 2005, Pages: 1802–1807, Lars Juhl Jensen and Lars M. Steinmetz

    Version of Record online : 12 FEB 2005, DOI: 10.1016/j.febslet.2005.02.006

  12. The sodium-dependent glucose cotransporter SLC5A11 as an autoimmune modifier gene in SLE

    Tissue Antigens

    Volume 71, Issue 2, February 2008, Pages: 114–126, L.-J. Tsai, S.-H. Hsiao, L.-M. Tsai, C.-Y. Lin, J.-J. Tsai, D.-M. Liou and J.-L. Lan

    Version of Record online : 7 DEC 2007, DOI: 10.1111/j.1399-0039.2007.00975.x

  13. You have free access to this content
    The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation

    Human Mutation

    Volume 30, Issue 6, June 2009, Pages: 968–977, Anthony J. Brookes, Heikki Lehvaslaiho, Juha Muilu, Yasumasa Shigemoto, Takashige Oroguchi, Takeshi Tomiki, Atsuhiro Mukaiyama, Akihiko Konagaya, Toshio Kojima, Ituro Inoue, Masako Kuroda, Hiroshi Mizushima, Gudmundur A. Thorisson, Debasis Dash, Haseena Rajeevan, Matthew W. Darlison, Mark Woon, David Fredman, Albert V. Smith, Martin Senger, Kimitoshi Naito and Hideaki Sugawara

    Version of Record online : 18 MAR 2009, DOI: 10.1002/humu.20973

  14. Phenotype harmonization and cross-study collaboration in GWAS consortia: the GENEVA experience

    Genetic Epidemiology

    Volume 35, Issue 3, April 2011, Pages: 159–173, Siiri N. Bennett, Neil Caporaso, Annette L. Fitzpatrick, Arpana Agrawal, Kathleen Barnes, Heather A. Boyd, Marilyn C. Cornelis, Nadia N. Hansel, Gerardo Heiss, John A. Heit, Jae Hee Kang, Steven J. Kittner, Peter Kraft, William Lowe, Mary L. Marazita, Kristine R. Monroe, Louis R. Pasquale, Erin M. Ramos, Rob M. van Dam, Jenna Udren, Kayleen Williams and for the GENEVA Consortium

    Version of Record online : 31 JAN 2011, DOI: 10.1002/gepi.20564

  15. You have free access to this content
    MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

    Human Mutation

    Volume 37, Issue 6, June 2016, Pages: 540–548, Lishuang Shen, Maria Angela Diroma, Michael Gonzalez, Daniel Navarro-Gomez, Jeremy Leipzig, Marie T. Lott, Mannis van Oven, Douglas C. Wallace, Colleen Clarke Muraresku, Zarazuela Zolkipli-Cunningham, Patrick F. Chinnery, Marcella Attimonelli, Stephan Zuchner, Marni J. Falk and Xiaowu Gai

    Version of Record online : 21 MAR 2016, DOI: 10.1002/humu.22974

  16. The mammalian phenotype ontology: enabling robust annotation and comparative analysis

    Wiley Interdisciplinary Reviews: Systems Biology and Medicine

    Volume 1, Issue 3, November/December 2009, Pages: 390–399, Cynthia L. Smith and Janan T. Eppig

    Version of Record online : 17 JUN 2009, DOI: 10.1002/wsbm.44

  17. Exploring Zebrafish Genomic, Functional and Phenotypic Data Using ZFIN


    Current Protocols in Bioinformatics


    Sridhar Ramachandran, Barbara Ruef, Christian Pich and Judy Sprague

    Published Online : 1 SEP 2010, DOI: 10.1002/0471250953.bi0118s31

  18. You have free access to this content
    Cafe Variome: General-Purpose Software for Making Genotype–Phenotype Data Discoverable in Restricted or Open Access Contexts

    Human Mutation

    Volume 36, Issue 10, October 2015, Pages: 957–964, Owen Lancaster, Tim Beck, David Atlan, Morris Swertz, Dhiwagaran Thangavelu, Colin Veal, Raymond Dalgleish and Anthony J Brookes

    Version of Record online : 25 AUG 2015, DOI: 10.1002/humu.22841

  19. InterStoreDB: A Generic Integration Resource for Genetic and Genomic Data

    Journal of Integrative Plant Biology

    Volume 54, Issue 5, May 2012, Pages: 345–355, Christopher G. Love, Ambrose E. Andongabo, Jun Wang, Pierre W. C. Carion, Christopher J. Rawlings and Graham J. King

    Version of Record online : 17 MAY 2012, DOI: 10.1111/j.1744-7909.2012.01120.x

  20. An Adaptive Association Test for Multiple Phenotypes with GWAS Summary Statistics

    Genetic Epidemiology

    Volume 39, Issue 8, December 2015, Pages: 651–663, Junghi Kim, Yun Bai and Wei Pan

    Version of Record online : 22 OCT 2015, DOI: 10.1002/gepi.21931