檢索結果 - Julius O.B. Jacobsen

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  1. 1
    Pharmacogenetics and adverse drug reports: Insights from a United Kingdom national pharmacovigilance database

    Pharmacogenetics and adverse drug reports: Insights from a United Kingdom national pharmacovigilance database 由 Emma Magavern, Maia Megase, Jack Thompson, Gabriel Marengo, Julius O.B. Jacobsen, Damian Smedley, Mark J. Caulfield

    出版 2025
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  2. 2
    The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymes

    The Catalytic Site Atlas 2.0: cataloging catalytic sites and residues identified in enzymes 由 Nicholas Furnham, Gemma L. Holliday, Tjaart de Beer, Julius O.B. Jacobsen, William R. Pearson, Janet M. Thornton

    出版 2013
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  3. 3
    Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

    Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease 由 Julius O.B. Jacobsen, Catherine Kelly, Valentina Cipriani, Genomics England Research Consortium, Chris Mungall, Justin Reese, Daniel Daniš, Peter N. Robinson, Damian Smedley

    出版 2022
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  4. 4
    Interpretable prioritization of splice variants in diagnostic next-generation sequencing

    Interpretable prioritization of splice variants in diagnostic next-generation sequencing 由 Daniel Daniš, Julius O.B. Jacobsen, Leigh Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde, Melissa Haendel, Giorgio Valentini, Damian Smedley, Peter N. Robinson

    出版 2021
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  5. 5
    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

    An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data 由 Valentina Cipriani, Nikolas Pontikos, Gavin Arno, Panagiotis I. Sergouniotis, Eva Lenassi, Penpitcha Thawong, Daniel Daniš, Michel Michaelides, Andrew R. Webster, Anthony T. Moore, Peter N. Robinson, Julius O.B. Jacobsen, Damian Smedley

    出版 2020
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  6. 6
    Next-generation diagnostics and disease-gene discovery with the Exomiser

    Next-generation diagnostics and disease-gene discovery with the Exomiser 由 Damian Smedley, Julius O.B. Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Żemojtel, Orion J. Buske, Nicole L. Washington, William P. Bone, Melissa Haendel, Peter N. Robinson

    出版 2015
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  7. 7
    Matchmaker Exchange

    Matchmaker Exchange 由 Nara Sobreira, Harindra Arachchi, Orion J. Buske, Jessica X. Chong, Ben Hutton, Julia Foreman, François Schiettecatte, Tudor Groza, Julius O.B. Jacobsen, Melissa Haendel, Kym M. Boycott, Ada Hamosh, Heidi L. Rehm

    出版 2017
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  8. 8
    SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing

    SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing 由 Daniel Daniš, Julius O.B. Jacobsen, Parithi Balachandran, Qihui Zhu, Feyza Yilmaz, Justin Reese, Matthias Haimel, Gholson J. Lyon, Ingo Helbig, Chris Mungall, Christine R. Beck, Charles Lee, Damian Smedley, Peter N. Robinson

    出版 2022
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  9. 9
    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm

    Interpretable Clinical Genomics with a Likelihood Ratio Paradigm 由 Peter N. Robinson, Vida Ravanmehr, Julius O.B. Jacobsen, Daniel Daniš, Xingmin Zhang, Leigh Carmody, Michael Gargano, Courtney Thaxton, Guy Karlebach, Justin Reese, Manuel Holtgrewe, Sebastian Köhler, Julie A. McMurry, Melissa Haendel, Damian Smedley

    出版 2020
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  10. 10
    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease 由 Damian Smedley, Max Schubach, Julius O.B. Jacobsen, Sebastian Köhler, Tomasz Żemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L. Washington, Julie A. McMurry, Melissa Haendel, Chris Mungall, Suzanna Lewis, Tudor Groza, Giorgio Valentini, Peter N. Robinson

    出版 2016
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  11. 11
    BioJava: an open-source framework for bioinformatics in 2012

    BioJava: an open-source framework for bioinformatics in 2012 由 Andreas Prlić, Andrew Yates, Spencer Bliven, Peter W. Rose, Julius O.B. Jacobsen, Peter V Troshin, Mark A. Chapman, Jianjiong Gao, Chuan Hock Koh, Sylvain Foisy, Richard Holland, Gediminas Rimša, Michael Heuer, H. Brandstätter–Müller, Philip E. Bourne, Scooter Willis

    出版 2012
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  12. 12
    Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics

    Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics 由 Sebastian Köhler, Nancy Christine Øien, Orion J. Buske, Tudor Groza, Julius O.B. Jacobsen, Craig McNamara, Nicole Vasilevsky, Leigh Carmody, Jean-Philippe F. Gourdine, Michael Gargano, Julie A. McMurry, Daniel Daniš, Chris Mungall, Damian Smedley, Melissa Haendel, Peter N. Robinson

    出版 2019
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  13. 13
    Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data

    Phenopolis: an open platform for harmonization and analysis of genetic and phenotypic data 由 Nikolas Pontikos, Jing Yu, Ismail Moghul, Lucy Withington, Fiona Blanco‐Kelly, Tom Vulliamy, Tsz Lun Ernest Wong, Cian Murphy, Valentina Cipriani, Alessia Fiorentino, Gavin Arno, Daniel Greene, Julius O.B. Jacobsen, Tristan Clark, David S Gregory, Andrea M Nemeth, Stephanie Halford, Chris F. Inglehearn, Susan M. Downes, Graeme Black, Andrew R. Webster, Alison J. Hardcastle, Vincent Plagnol

    出版 2017
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  14. 14
    Navigating the Phenotype Frontier: The Monarch Initiative

    Navigating the Phenotype Frontier: The Monarch Initiative 由 Julie A. McMurry, Sebastian Köhler, Nicole L. Washington, James P. Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, Tom Conlin, Nathan Dunn, Mark Engelstad, Erin D. Foster, Jean-Philippe F. Gourdine, Julius O.B. Jacobsen, Daniel Keith, Bryan Laraway, Jeremy Nguyen Xuan, Kent Shefchek, Nicole Vasilevsky, Zhou Yuan, Suzanna Lewis, Harry Hochheiser, Tudor Groza, Damian Smedley, Peter N. Robinson, Chris Mungall, Melissa Haendel

    出版 2016
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  15. 15
    The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species

    The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species 由 Chris Mungall, Julie A. McMurry, Sebastian Köhler, James P. Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, Tom Conlin, Nathan Dunn, Mark Engelstad, Erin D. Foster, Jean-Philippe F. Gourdine, Julius O.B. Jacobsen, Dan Keith, Bryan Laraway, Suzanna Lewis, Jeremy Nguyen-Xuan, Kent Shefchek, Nicole Vasilevsky, Zhou Yuan, Nicole L. Washington, Harry Hochheiser, Tudor Groza, Damian Smedley, Peter N. Robinson, Melissa Haendel

    出版 2016
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  16. 16
    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery 由 Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh Carmody, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica Muñoz‐Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    出版 2024
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    Pré-impressão
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  17. 17
    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

    Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency 由 William P. Bone, Nicole L. Washington, Orion J. Buske, David R. Adams, Joie Davis, David D. Draper, Elise D. Flynn, Marta Gîrdea, Rena A. Godfrey, Gretchen Golas, Catherine Groden, Julius O.B. Jacobsen, Sebastian Köhler, Elizabeth M.J. Lee, Amanda E. Links, Thomas C. Markello, Chris Mungall, Michele Nehrebecky, Peter N. Robinson, Murat Sincan, Ariane Soldatos, Cynthia J. Tifft, Camilo Toro, Heather Trang, Elise Valkanas, Nicole Vasilevsky, Colleen E. Wahl, Lynne A. Wolfe, Cornelius F. Boerkoel, Michael Brudno, Melissa Haendel, William A. Gahl, Damian Smedley

    出版 2015
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  18. 18
    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery

    A corpus of GA4GH phenopackets: case-level phenotyping for genomic diagnostics and discovery 由 Daniel Daniš, Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh Carmody, Leonardo Chimirri, Jessica X. Chong, Ben Coleman, Raymond Dalgleish, Peter Freeman, Adam S.L. Graefe, Tudor Groza, Peter Hansen, Julius O.B. Jacobsen, Adam Klocperk, Maaike Kusters, Markus S. Ladewig, Anthony J. Marcello, Teresa Mattina, Chris Mungall, Monica C. Munoz-Torres, Justin Reese, Filip Rehburg, Bárbara Carvalho Santos dos Reis, Catharina Schuetz, Damian Smedley, Timmy Strauß, Jagadish Chandrabose Sundaramurthi, Sylvia Thun, Kyran Wissink, J. Wagstaff, David Zocche, Melissa Haendel, Peter N. Robinson

    出版 2024
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  19. 19
    The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species

    The Monarch Initiative in 2024: an analytic platform integrating phenotypes, genes and diseases across species 由 Tim Putman, Kevin Schaper, Nicolas Matentzoglu, Vincent Rubinetti, Faisal Alquaddoomi, Corey Cox, J. Harry Caufield, Glass Elsarboukh, Sarah Gehrke, Harshad Hegde, Justin Reese, Ian Braun, Richard Bruskiewich, Luca Cappelletti, Seth Carbon, Anita R. Caron, Lauren Chan, Christopher G. Chute, Katherina G Cortes, Vinícius de Souza, Tommaso Fontana, Nomi L. Harris, Emily Hartley, Eric Hurwitz, Julius O.B. Jacobsen, Madan Krishnamurthy, Bryan Laraway, James Alastair McLaughlin, Julie A. McMurry, Sierra Moxon, Kathleen R. Mullen, Shawn T. O’Neil, Kent Shefchek, Ray Stefancsik, Sabrina Toro, Nicole Vasilevsky, Ramona Walls, Patricia L. Whetzel, David Osumi-Sutherland, Damian Smedley, Peter N. Robinson, Chris Mungall, Melissa Haendel, Monica Muñoz‐Torres

    出版 2023
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  20. 20
    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

    The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases 由 Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo, Carles Hernández-Ferrer, Cristina Luengo, Anastasios Papakonstantinou, Joan Protassio, Inés Martínez, Daniel Picó, Rachel Thompson, Raúl Tonda, Mónica Bayés, Gemma Bullich, Jordi Camps, Ida Paramonov, Jean-Rémi Trotta, Ángel Alonso, Marcella Attimonelli, Christophe Béroud, Virginie Bros‐Facer, Orion J. Buske, Andrés Cañada, José M. Fernández, Mats Hansson, Rita Horváth, Julius O.B. Jacobsen, Rajaram Kaliyaperumal, Séverine Lair, Luana Licata, Pedro Lopes, Estrella López‐Martín, Deborah Mascalzoni, Lucía Monaco, Luis Pérez Jurado, Manuel Posada de la Paz, Jordi Rambla, Ana Rath, Olaf Rieß, Peter N. Robinson, Damian Smedley, Dylan Spalding, Peter A.C. ‘t Hoen, Ana Töpf, Irina Zaharieva, Holm Graeßner, Marta Gut, Hanns Lochmüller, Sergi Beltrán

    出版 2022
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