檢索結果 - Tristan Nelson

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  1. 1
    ClinGen Allele Registry links information about genetic variants

    ClinGen Allele Registry links information about genetic variants 由 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 2018
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  2. 2
    ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants

    ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants 由 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 2017
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  3. 3
    The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification

    The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification 由 Alex H. Wagner, Lawrence Babb, Gil Alterovitz, Michael Baudis, Matthew Brush, Daniel Cameron, Melissa Cline, Malachi Griffith, Obi L. Griffith, Sarah Hunt, David Kreda, Jennifer Lee, Stephanie Li, Javier Ferreiros, Eric Moyer, Tristan Nelson, Ronak Y. Patel, Kevin Riehle, Peter N. Robinson, Shawn Rynearson, Helen Schuilenburg, Kirill Tsukanov, Brian Walsh, Melissa Konopko, Heidi L. Rehm, Andrew Yates, Robert R. Freimuth, Reece K. Hart

    出版 2021
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  4. 4
    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation

    The Clinical Genome Resource (ClinGen): Advancing genomic knowledge through global curation 由 Erica Andersen, Danielle R. Azzariti, Lawrence Babb, Jonathan S. Berg, Leslie G. Biesecker, Zo Bly, Adam H. Buchanan, Marina T. DiStefano, Li Gong, Steven M. Harrison, Jessica Ezzell Hunter, B Kattman, Teri E. Klein, Melissa Landrum, Kandamurugu Manickam, Alessandra Serrano Marroquin, Alastair J. Martin, Laura V. Milko, Aleksandar Milosavljevic, Joannella Morales, Tristan Nelson, Sharon E. Plon, Bradford C. Powell, Erin M. Ramos, Heidi L. Rehm, Erin Rooney Riggs, Deborah Ritter, Neethu Shah, Courtney Thaxton, Erik C. Thorland, Meredith Weaver, Phillip Weller, Matt W. Wright

    出版 2024
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  5. 5
    Mondo: Unifying diseases for the world, by the world

    Mondo: Unifying diseases for the world, by the world 由 Nicole Vasilevsky, Nicolas Matentzoglu, Sabrina Toro, Joseph Eugene Flack, Harshad Hegde, Deepak Unni, Gioconda Alyea, Joanna Amberger, Lawrence Babb, James P. Balhoff, Taylor I. Bingaman, Gully Burns, Orion J. Buske, Tiffany J Callahan, Leigh Carmody, Paula Carrio-Cordo, Lauren Chan, George S Chang, S. Christiaens, Michel Dumontier, Laura Failla, May J Flowers, H. Alpha Garrett, Jennifer Goldstein, Dylan Gration, Tudor Groza, Marc Hanauer, Nomi L. Harris, Jason A. Hilton, Daniel Himmelstein, Charles Tapley Hoyt, Megan Kane, Sebastian Köhler, David Lagorce, Abbe Lai, Martin Larralde, Antonia Lock, Irene López Santiago, Donna Maglott, Adriana J Malheiro, Birgit Meldal, Monica Muñoz‐Torres, Tristan Nelson, F. W. Nicholas, David Ochoa, Daniel Olson, Tudor I. Oprea, David Osumi-Sutherland, Helen Parkinson, Zoë May Pendlington, Ana Rath, Heidi L. Rehm, Lyubov Remennik, Erin Rooney Riggs, Paola Roncaglia, Justyne Ross, Marion Shadbolt, Kent Shefchek, Morgan Similuk, Nicholas Sioutos, Damian Smedley, Rachel Sparks, Ray Stefancsik, Ralf Stephan, Andrea L. Storm, Doron Stupp, Gregory S. Stupp, Jagadish Chandrabose Sundaramurthi, Imke Tammen, D. K. C. Tay, Courtney Thaxton, Eloise Valasek, Jordi Valls-Margarit, Alex H. Wagner, Danielle Welter, Patricia L. Whetzel, Lori Whiteman, Valerie Wood, Colleen H. Xu, Andreas Zankl, Xingmin Zhang, Christopher G. Chute, Peter N. Robinson, Chris Mungall, Ada Hamosh, Melissa Haendel

    出版 2022
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