检索结果 - Lawrence Babb

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  1. 1
    Communicating new knowledge on previously reported genetic variants

    Communicating new knowledge on previously reported genetic variants 由 Samuel Aronson, Eugene Clark, Matthew Varugheese, Samantha Baxter, Lawrence Babb, Heidi L. Rehm

    出版 2012
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  2. 2
    The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing

    The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing 由 Samuel Aronson, Eugene Clark, Lawrence Babb, Samantha Baxter, Lisa Farwell, Birgit Funke, Amy Hernandez, Victoria A. Joshi, Elaine Lyon, Andrew R. Parthum, Franklin J. Russell, Matthew Varugheese, Thomas C. Venman, Heidi L. Rehm

    出版 2011
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  3. 3
    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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  4. 4
    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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  5. 5
    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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  6. 6
    <i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics

    <i>seqr</i> : A web‐based analysis and collaboration tool for rare disease genomics 由 Lynn Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia, Emily O’Heir, Eleina England, Katherine R. Chao, Gabrielle Lemire, Ikeoluwa Osei‐Owusu, Grace E. VanNoy, Michael W. Wilson, Kevin Nguyen, Harindra Arachchi, William Phu, Matthew Solomonson, Stacy Mano, Melanie O’Leary, Alysia Kern Lovgren, Lawrence Babb, Christina Austin‐Tse, Heidi L. Rehm, Daniel G. MacArthur, Anne O’Donnell‐Luria

    出版 2022
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  7. 7
    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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  8. 8
    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines 由 Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo López Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina T. DiStefano, Julianne O’Daniel, Kristy Lee, Erin Rooney Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa

    出版 2022
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  9. 9
    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources

    The Gene Curation Coalition: A global effort to harmonize gene–disease evidence resources 由 Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin‐Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew E. Hurles, S. E. A. Leigh, Ivone Leong, Sateesh Maddirevula, Christa Lese Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, Thabo M. Yates, Heidi L. Rehm

    出版 2022
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  10. 10
    The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

    The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species 由 Kent Shefchek, Nomi L. Harris, Michael Gargano, Nicolas Matentzoglu, Deepak Unni, Matthew Brush, Daniel Keith, Tom Conlin, Nicole Vasilevsky, Xingmin Zhang, James P. Balhoff, Lawrence Babb, Susan M. Bello, Hannah Blau, Yvonne M. Bradford, Seth Carbon, Leigh Carmody, Lauren Chan, Valentina Cipriani, Alayne Cuzick, Maria Della Rocca, Nathan Dunn, Shahim Essaid, Petra Fey, Chris Grove, Jean-Phillipe Gourdine, Ada Hamosh, Midori A. Harris, Ingo Helbig, Maureen E. Hoatlin, Marcin P. Joachimiak, Simon Jupp, Kenneth B Lett, Suzanna Lewis, Craig McNamara, Zoë May Pendlington, Clare Pilgrim, Tim Putman, Vida Ravanmehr, Justin Reese, Erin Rooney Riggs, Sofia Robb, Paola Roncaglia, James Seager, Erik Segerdell, Morgan Similuk, Andrea L. Storm, Courtney Thaxon, Anne Thessen, Julius O.B. Jacobsen, Julie A. McMurry, Tudor Groza, Sebastian Köhler, Damian Smedley, Peter N. Robinson, Chris Mungall, Melissa Haendel, Monica Muñoz‐Torres, David Osumi-Sutherland

    出版 2019
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  11. 11
    The GA4GH Phenopacket schema defines a computable representation of clinical data

    The GA4GH Phenopacket schema defines a computable representation of clinical data 由 Julius O.B. Jacobsen, Michael Baudis, Gareth Baynam, J. Beckmann, Sergi Beltrán, Orion J. Buske, Tiffany J Callahan, Christopher G. Chute, Mélanie Courtot, Daniel Daniš, Olivier Elemento, Andrea Essenwanger, Robert R. Freimuth, Michael Gargano, Tudor Groza, Ada Hamosh, Nomi L. Harris, Rajaram Kaliyaperumal, K. C. Kent Lloyd, Aly Khalifa, Peter Krawitz, Sebastian Köhler, Bryan Laraway, Heikki Lehväslaiho, Leslie Matalonga, Julie A. McMurry, Alejandro Metke‐Jimenez, Chris Mungall, Monica Muñoz‐Torres, Soichi Ogishima, Anastasios Papakonstantinou, Davide Piscia, Nikolas Pontikos, Núria Queralt-Rosiñach, Marco Roos, Julian Saß, Paul N. Schofield, Dominik Seelow, Anastasios Siapos, Damian Smedley, Lindsay Smith, Robin Steinhaus, Jagadish Chandrabose Sundaramurthi, Emilia M. Swietlik, Sylvia Thun, Nicole Vasilevsky, Alex H. Wagner, Jeremy L. Warner, Claus Weiland, Myles Axton, Lawrence Babb, Cornelius F. Boerkoel, Bimal P. Chaudhari, Hui‐Lin Chin, Michel Dumontier, Nour Gazzaz, David Hansen, Harry Hochheiser, Veronica A. Kinsler, Hanns Lochmüller, Alexander Mankovich, Gary Saunders, Panagiotis I. Sergouniotis, Rachel Thompson, Andreas Zankl, Melissa Haendel, Peter N. Robinson

    出版 2022
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  12. 12
    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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  13. 13
    GA4GH: International policies and standards for data sharing across genomic research and healthcare

    GA4GH: International policies and standards for data sharing across genomic research and healthcare 由 Heidi L. Rehm, Angela Page, Lindsay Smith, Jeremy Adams, Gil Alterovitz, Lawrence Babb, Maxmillian P. Barkley, Michael Baudis, Michael J. S. Beauvais, Tim Beck, J. Beckmann, Sergi Beltrán, David L. Bernick, Alexander Bernier, James Bonfield, Tiffany Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley Clissold, Robert Cook‐Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan Doerr, Lena Dolman, Edward S. Dove, Lewis Jonathan Dursi, Stephanie O. M. Dyke, James A. Eddy, Karen Eilbeck, Kyle Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian Fore, Mallory Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa Haendel, Ada Hamosh, David Hansen, Reece K. Hart, Dean M. Hartley, David Haussler, Rachele Hendricks‐Sturrup, Calvin Wai-Loon Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver Hofmann, Petr Holub, Jacob Shujui Hsu, Jean‐Pierre Hubaux, Sarah Hunt, Ammar Husami, Julius O.B. Jacobsen, Saumya S. Jamuar, Elizabeth Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Yoshihiro Kato, Thomas Keane, Kristina Kekesi-Lafrance

    出版 2021
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  14. 14
    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network

    Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network 由 Hana Zouk, Eric Venner, Niall J. Lennon, Donna M. Muzny, Debra Abrams, Samuel E. Adunyah, Ladia Albertson‐Junkans, Darren C. Ames, Paul S. Appelbaum, Samuel Aronson, Sharon Aufox, Lawrence Babb, Adithya Balasubramanian, Hana Bangash, Melissa Basford, Lisa Bastarache, Samantha Baxter, Meckenzie Behr, Barbara Benoit, Elizabeth Bhoj, Suzette J. Bielinski, Harris T. Bland, Carrie L. Blout Zawatsky, Kenneth M. Borthwick, Erwin P. Böttinger, Mark Bowser, Harrison Brand, Murray H. Brilliant, Wendy Brodeur, Pedro J. Caraballo, David Carrell, Andrew Carroll, Berta Almoguera, Lisa Castillo, Víctor M. Castro, Gauthami Chandanavelli, Theodore Chiang, Rex L. Chisholm, Kurt D. Christensen, Wendy K. Chung, Christopher G. Chute, Brittany City, Beth L. Cobb, John J. Connolly, Paul K. Crane, Katherine D. Crew, David R. Crosslin, Mariza de Andrade, Jessica De la Cruz, Shawn Denson, Joshua C. Denny, Tim DeSmet, Ozan Dikilitas, Christopher A. Friedrich, Stephanie M. Fullerton, Birgit Funke, Stacey Gabriel, Vivian S. Gainer, Ali G. Gharavi, Andrew M. Glazer, Joseph Glessner, Jessica Goehringer, Allan Gordon, Chet Graham, Robert C. Green, Justin H. Gundelach, Jyoti G. Dayal, Heather S. Hain, Hákon Hákonarson, Maegan Harden, John B. Harley, Margaret Harr, Andrea L. Hartzler, M. Geoffrey Hayes, Scott J. Hebbring, Nora B. Henrikson, Andrew D. Hershey, Christin Hoell, Ingrid A. Holm, Kayla M. Howell, George Hripcsak, Jianhong Hu, Gail P. Jarvik, Joy C. Jayaseelan, Yunyun Jiang, Yoonjung Yoonie Joo, Sheethal Jose, Navya Shilpa Josyula, Anne E. Justice, Sara E. Kalla, Divya Kalra, Elizabeth W. Karlson, Melissa Kelly, Brendan J. Keating, Eimear E. Kenny, Dustin Key, Krzysztof Kiryluk, Terrie Kitchner, Barbara J. Klanderman, Eric W. Klee

    出版 2019
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  15. 15
    Centers for Mendelian Genomics: A decade of facilitating gene discovery

    Centers for Mendelian Genomics: A decade of facilitating gene discovery 由 Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell‐Luria, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Lawrence Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif Harmanci

    出版 2022
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  16. 16
    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death 由 Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville

    出版 2023
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