検索結果 - Chris Bizon

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  1. 1
    VisualDecisionLinc: A visual analytics approach for comparative effectiveness-based clinical decision support in psychiatry

    VisualDecisionLinc: A visual analytics approach for comparative effectiveness-based clinical decision support in psychiatry 著者: Ketan K. Mane, Chris Bizon, Charles Schmitt, Phillips Owen, Bruce M. Burchett, Ricardo Pietrobon, Kenneth Gersing

    出版事項 2011
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    Artigo
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  2. 2
    Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels

    Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels 著者: Dona Kanavy, Shannon McNulty, Meera K. Jairath, Sarah E. Brnich, Chris Bizon, Bradford C. Powell, Jonathan S. Berg

    出版事項 2019
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    Revisão
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  3. 3
    ExEmPLAR (Extracting, Exploring, and Embedding Pathways Leading to Actionable Research): a user-friendly interface for knowledge graph mining

    ExEmPLAR (Extracting, Exploring, and Embedding Pathways Leading to Actionable Research): a user-friendly interface for knowledge graph mining 著者: Jon-Michael Beasley, Daniel Korn, Nyssa N Tucker, Erick Tavares Marcelino Alves, Eugene Muratov, Chris Bizon, Alexander Tropsha

    出版事項 2024
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    Artigo
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  4. 4
    ROBOKOP: an abstraction layer and user interface for knowledge graphs to support question answering

    ROBOKOP: an abstraction layer and user interface for knowledge graphs to support question answering 著者: Kenneth D. Morton, Patrick Wang, Chris Bizon, Steven J. Cox, James P. Balhoff, Yaphet Kebede, Karamarie Fecho, Alexander Tropsha

    出版事項 2019
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    Artigo
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  5. 5
    An informatics approach to analyzing the incidentalome

    An informatics approach to analyzing the incidentalome 著者: Jonathan S. Berg, Michael C. C. Adams, Nassib Nassar, Chris Bizon, Kristy Lee, Charles Schmitt, Kirk C. Wilhelmsen, James P. Evans

    出版事項 2012
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    Artigo
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  6. 6
    Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing

    Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing 著者: Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan K. Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala

    出版事項 2011
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    Artigo
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  7. 7
    Increasing the diagnostic yield of exome sequencing by copy number variant analysis

    Increasing the diagnostic yield of exome sequencing by copy number variant analysis 著者: Daniel S. Marchuk, Kristy Crooks, Natasha T. Strande, Kathleen Kaiser‐Rogers, Laura V. Milko, Alicia Brandt, Alexandra Arreola, Christian R. Tilley, Chris Bizon, Neeta L. Vora, Kirk C. Wilhelmsen, James P. Evans, Jonathan S. Berg

    出版事項 2018
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    Artigo
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  8. 8
    ClinGen Allele Registry links information about genetic variants

    ClinGen Allele Registry links information about genetic variants 著者: Piotr Pawliczek, Ronak Y. Patel, Lillian Ashmore, Andrew R. Jackson, Chris Bizon, Tristan Nelson, Bradford C. Powell, Robert R. Freimuth, Natasha T. Strande, Neethu Shah, Sameer Paithankar, Matt W. Wright, Selina S. Dwight, Jimmy Zhen, Melissa Landrum, Peter B. McGarvey, Lawrence Babb, Sharon E. Plon, Aleksandar Milosavljevic

    出版事項 2018
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    Artigo
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  9. 9
    Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges

    Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges 著者: Neeta L. Vora, Bradford C. Powell, Alicia Brandt, Natasha T. Strande, Emily Hardisty, Kelly L. Gilmore, Ann Katherine M. Foreman, Kirk C. Wilhelmsen, Chris Bizon, Jason Reilly, Phil Owen, Cynthia M. Powell, Debra Skinner, Christine Rini, Anne Drapkin Lyerly, Kim Boggess, Karen E. Weck, Jonathan S. Berg, James P. Evans

    出版事項 2017
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    Artigo
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  10. 10
    ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

    ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants 著者: Ronak Y. Patel, Neethu Shah, Andrew R. Jackson, Rajarshi Ghosh, Piotr Pawliczek, Sameer Paithankar, Aaron B. Baker, Kevin Riehle, Hailin Chen, Sofia Milosavljevic, Chris Bizon, Shawn Rynearson, Tristan Nelson, Gail P. Jarvik, Heidi L. Rehm, Steven M. Harrison, Danielle R. Azzariti, Bradford C. Powell, Lawrence Babb, Sharon E. Plon, Aleksandar Milosavljevic

    出版事項 2017
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    Artigo
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  11. 11
    Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science

    Biolink Model: A universal schema for knowledge graphs in clinical, biomedical, and translational science 著者: Deepak Unni, Sierra Moxon, Michael Bada, Matthew Brush, Richard Bruskiewich, J. Harry Caufield, Paul A. Clemons, Vlado Dančík, Michel Dumontier, Karamarie Fecho, Gustavo Glusman, Jennifer Hadlock, Nomi L. Harris, Arpita Joshi, Tim Putman, Guangrong Qin, Stephen A. Ramsey, Kent Shefchek, Harold R. Solbrig, Karthik Soman, Anne Thessen, Melissa Haendel, Chris Bizon, Chris Mungall

    出版事項 2022
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    Revisão
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  12. 12
    Progress toward a universal biomedical data translator

    Progress toward a universal biomedical data translator 著者: Karamarie Fecho, Anne Thessen, Sergio E. Baranzini, Chris Bizon, Jennifer Hadlock, Sui Huang, Ryan Roper, Noel Southall, Casey Ta, Paul B. Watkins, Mark D. Williams, Hao Xu, William E. Byrd, Vlado Dančík, Marc Duby, Michel Dumontier, Gustavo Glusman, Nomi L. Harris, Eugene W. Hinderer, Greg Hyde, Adam J. Johs, Andrew I. Su, Guangrong Qin, Qian Zhu

    出版事項 2022
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  13. 13
    Germline Mutations in<i>HOXB13</i>and Prostate-Cancer Risk

    Germline Mutations in<i>HOXB13</i>and Prostate-Cancer Risk 著者: Charles M. Ewing, Anna M. Ray, Ethan M. Lange, Kimberly A. Zuhlke, Christiane M. Robbins, Waibhav Tembe, Kathleen E. Wiley, Sarah D. Isaacs, Dorhyun Johng, Yunfei Wang, Chris Bizon, Guifang Yan, Marta Gielzak, Alan W. Partin, Vijayalakshmi Shanmugam, Tyler Izatt, Shripad Sinari, David W. Craig, S. Lilly Zheng, Patrick C. Walsh, James E. Montie, Jianfeng Xu, John D. Carpten, William B. Isaacs, Kathleen A. Cooney

    出版事項 2012
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    Artigo
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  14. 14
    A Simple Standard for Sharing Ontological Mappings (SSSOM)

    A Simple Standard for Sharing Ontological Mappings (SSSOM) 著者: Nicolas Matentzoglu, James P. Balhoff, Susan M. Bello, Chris Bizon, Matthew Brush, Tiffany J Callahan, Christopher G. Chute, William D. Duncan, Chris T. Evelo, Davera Gabriel, John Graybeal, Alasdair Gray, Benjamin M. Gyori, Melissa Haendel, Henriette Harmse, Nomi L. Harris, Ian Harrow, Harshad Hegde, Amelia Hoyt, Charles Tapley Hoyt, Dazhi Jiao, Ernesto Jiménez-Ruiz, Simon Jupp, HyeongSik Kim, Sebastian Koehler, Thomas Liener, Qinqin Long, James Malone, James Alastair McLaughlin, Julie A. McMurry, Sierra Moxon, Monica Muñoz‐Torres, David Osumi-Sutherland, James A. Overton, Bjoern Peters, Tim Putman, Núria Queralt-Rosiñach, Kent Shefchek, Harold R. Solbrig, Anne Thessen, Tania Tudorache, Nicole Vasilevsky, Alex H. Wagner, Chris Mungall

    出版事項 2022
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    Artigo
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  15. 15
    Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

    Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol 著者: Leslie A. Lange, Youna Hu, He Zhang, Chenyi Xue, Ellen M. Schmidt, Zheng-Zheng Tang, Chris Bizon, Ethan M. Lange, Joshua D. Smith, Emily H. Turner, Goo Jun, Hyun Min Kang, Gina M. Peloso, Paul L. Auer, Kuo-ping Li, Jason Flannick, Ji Zhang, Christian Fuchsberger, Kyle J. Gaulton, Cecilia M. Lindgren, Adam E. Locke, Alisa K. Manning, Xueling Sim, Manuel A. Rivas, Oddgeir L. Holmen, Omri Gottesman, Yingchang Lu, Douglas M. Ruderfer, Eli A. Stahl, Qing Duan, Yun Li, Peter Durda, Shuo Jiao, Aaron Isaacs, Albert Hofman, Joshua C. Bis, Adolfo Correa, Michael Griswold, Jóhanna Jakobsdóttir, Albert V. Smith, Pamela J. Schreiner, Mary F. Feitosa, Qunyuan Zhang, Jennifer E. Huffman, Jacy R. Crosby, Christina L. Wassel, Ron Do, Nora Franceschini, Lisa W. Martin, Jennifer G. Robinson, Themistocles L. Assimes, David R. Crosslin, Elisabeth A. Rosenthal, Michael Y. Tsai, Mark J. Rieder, Deborah Farlow, Aaron R. Folsom, Thomas Lumley, Ervin R. Fox, Christopher S. Carlson, Ulrike Peters, Rebecca D. Jackson, Cornelia M. van Duijn, André G. Uitterlinden, Daniel Levy, Jerome I. Rotter, Herman A. Taylor, Vilmundur Guðnason, David S. Siscovick, Myriam Fornage, Ingrid B. Borecki, Caroline Hayward, Igor Rudan, Y. Eugene Chen, Erwin P. Böttinger, Ruth J. F. Loos, Pål Sætrom, Kristian Hveem, Michael Boehnke, Leif Groop, Mark I. McCarthy, Thomas Meitinger, Christie M. Ballantyne, Stacey Gabriel, Christopher J. O’Donnell, Wendy S. Post, Kari E. North, Alexander P. Reiner, Eric Boerwinkle, Bruce M. Psaty, David Altshuler, Sekar Kathiresan, Dan-Yu Lin, Gail P. Jarvik, L. Adrienne Cupples, Charles Kooperberg, James G. Wilson, Deborah A. Nickerson, Gonçalo R. Abecasis, Stephen S. Rich

    出版事項 2014
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    Artigo
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