J
Julius O.B. Jacobsen
Researcher at Queen Mary University of London
Publications - 42
Citations - 5241
Julius O.B. Jacobsen is an academic researcher from Queen Mary University of London. The author has contributed to research in topics: Human Phenotype Ontology & Exome. The author has an hindex of 18, co-authored 35 publications receiving 4350 citations. Previous affiliations of Julius O.B. Jacobsen include Wellcome Trust & Wellcome Trust Sanger Institute.
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The Universal Protein Resource (UniProt) in 2010
Rolf Apweiler,Maria Jesus Martin,Claire O'Donovan,Michele Magrane,Yasmin Alam-Faruque,Ricardo Antunes,Daniel Barrell,Benoit Bely,M Bingley,David Binns,Lynette Bower,Paul Browne,WM Chan,E. Dimmer,Ruth Y. Eberhardt,A. Fedotov,Rebecca E. Foulger,John S. Garavelli,Rachael P. Huntley,Julius O.B. Jacobsen,M. Kleen,Kati Laiho,Rasko Leinonen,Duncan Legge,Quan Lin,W Liu,Jie Luo,Sandra Orchard,Samuel Patient,Diego Poggioli,Manuela Pruess,Matthew Corbett,G di Martino,M Donnelly,P van Rensburg,Amos Marc Bairoch,Lydie Bougueleret,Ioannis Xenarios,S Altairac,Andrea H. Auchincloss,Ghislaine Argoud-Puy,Kristian B. Axelsen,Delphine Baratin,M. C. Blatter,Brigitte Boeckmann,Jerven Bolleman,L. Bollondi,Emmanuel Boutet,SB Quintaje,Lionel Breuza,Alan Bridge,E. Decastro,L Ciapina,D Coral,Elisabeth Coudert,Isabelle Cusin,G Delbard,M Doche,Dolnide Dornevil,Paula Duek Roggli,Séverine Duvaud,Anne Estreicher,L Famiglietti,M Feuermann,Sebastien Gehant,N. Farriol-Mathis,Serenella Ferro,Elisabeth Gasteiger,Alain Gateau,Gerritsen,Arnaud Gos,Nadine Gruaz-Gumowski,Ursula Hinz,Chantal Hulo,Nicolas Hulo,J. James,S. Jimenez,Florence Jungo,T. Kappler,Guillaume Keller,Corinne Lachaize,L Lane-Guermonprez,Petra S. Langendijk-Genevaux,Lara,P Lemercier,Damien Lieberherr,Tdo Lima,Mangold,Xavier D. Martin,Patrick Masson,M. Moinat,Anne Morgat,Anaïs Mottaz,Salvo Paesano,Ivo Pedruzzi,Sandrine Pilbout,Pillet,Sylvain Poux,Monica Pozzato,Nicole Redaschi,Catherine Rivoire,Bernd Roechert,Maria Victoria Schneider,Christian J. A. Sigrist,K Sonesson,S Staehli,Eleanor J Stanley,Andre Stutz,Shyamala Sundaram,Michael Tognolli,Laure Verbregue,A-L Veuthey,L Yip,L Zuletta,Cathy H. Wu,Cecilia N. Arighi,Leslie Arminski,Winona C. Barker,Chuming Chen,Yingfei Chen,Z-Z Hu,Hongzhan Huang,Raja Mazumder,Peter B. McGarvey,Darren A. Natale,Jules Nchoutmboube,Natalia V. Petrova,N Subramanian,Baris E. Suzek,U. Ugochukwu,Sona Vasudevan,C. R. Vinayaka,LS Yeh,Jian Zhang +133 more
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Ongoing and future developments at the Universal Protein Resource
Anne Morgat,Rolf Apweiler,Maria Jesus Martin,Claire O'Donovan,Michele Magrane,Yasmin Alam-Faruque,Ricardo Antunes,Daniel Barrell,Benoit Bely,M Bingley,David Binns,Lynette Bower,Paul Browne,Chan Wm,E. Dimmer,Ruth Y. Eberhardt,F. Fazzini,A. Fedotov,Rebecca E. Foulger,John S. Garavelli,Castro Lg,Rachael P. Huntley,Julius O.B. Jacobsen,M. Kleen,Kati Laiho,Duncan Legge,Quan Lin,W Liu,Jie Luo,Sandra Orchard,S. Patient,Klemens Pichler,Diego Poggioli,Nikolas Pontikos,Manuela Pruess,Steven Rosanoff,Tony Sawford,H. Sehra,Edward Turner,M. Corbett,M Donnelly,Van Rensburg P,Ioannis Xenarios,Lydie Bougueleret,Andrea H. Auchincloss,Ghislaine Argoud-Puy,Kristian B. Axelsen,Amos Marc Bairoch,Delphine Baratin,Blatter Mc,Brigitte Boeckmann,Jerven Bolleman,L. Bollondi,Emmanuel Boutet,Quintaje Sb,Lionel Breuza,Alan Bridge,E. Decastro,Elisabeth Coudert,Isabelle Cusin,M Doche,Dolnide Dornevil,Séverine Duvaud,Anne Estreicher,L Famiglietti,M Feuermann,Sebastien Gehant,Serenella Ferro,Elisabeth Gasteiger,Alain Gateau,Vivienne Baillie Gerritsen,Arnaud Gos,Nadine Gruaz-Gumowski,Ursula Hinz,Chantal Hulo,Nicolas Hulo,J. James,S. Jimenez,Florence Jungo,T. Kappler,Guillaume Keller,Vicente Lara,P Lemercier,Damien Lieberherr,Xavier D. Martin,Patrick Masson,M. Moinat,Salvo Paesano,Ivo Pedruzzi,Sandrine Pilbout,Sylvain Poux,Monica Pozzato,Nicole Redaschi,Catherine Rivoire,Bernd Roechert,Maria Victoria Schneider,Christian J. A. Sigrist,K Sonesson,S Staehli,E. Stanley,Andre Stutz,Shyamala Sundaram,Michael Tognolli,Laure Verbregue,Veuthey Al,Wu Ch,Arighi Cn,Leslie Arminski,Barker Wc,Chuming Chen,Yongxing Chen,P. Dubey,He Huang,Raja Mazumder,Peter B. McGarvey,Natale Da,Natarajan Tg,J. Nchoutmboube,Roberts Nv,Suzek Be,U. Ugochukwu,Vinayaka Cr,Qiang Wang,Yuqi Wang,Yeh Ls,Jian Zhang +125 more
TL;DR: The primary mission of Universal Protein Resource (UniProt) is to support biological research by maintaining a stable, comprehensive, fully classified, richly and accurately annotated protein sequence knowledgebase, with extensive cross-references and querying interfaces freely accessible to the scientific community.
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The Human Phenotype Ontology in 2017
Sebastian Köhler,Nicole Vasilevsky,Mark Engelstad,Erin D. Foster,Julie A. McMurry,Ségolène Aymé,Gareth Baynam,Gareth Baynam,Susan M. Bello,Cornelius F. Boerkoel,Kym M. Boycott,Michael Brudno,Orion J. Buske,Patrick F. Chinnery,Valentina Cipriani,Laureen E. Connell,Hugh Dawkins,Laura E. DeMare,Andrew D. Devereau,Bert B.A. de Vries,Helen V. Firth,Kathleen Freson,Daniel Greene,Ada Hamosh,Ingo Helbig,Ingo Helbig,Courtney Hum,Johanna A. Jähn,Roger James,Roland Krause,Stanley J. F. Laulederkind,Hanns Lochmüller,Gholson J. Lyon,Soichi Ogishima,Annie Olry,Willem H. Ouwehand,Nikolas Pontikos,Ana Rath,Franz Schaefer,Richard H. Scott,Michael M. Segal,Panagiotis I. Sergouniotis,Richard Sever,Cynthia L. Smith,Volker Straub,Rachel Thompson,C. Turner,Ernest Turro,Marijcke W. M. Veltman,Tom Vulliamy,Jing Yu,Julie von Ziegenweidt,Andreas Zankl,Stephan Züchner,Tomasz Zemojtel,Julius O.B. Jacobsen,Tudor Groza,Damian Smedley,Christopher J. Mungall,Melissa A. Haendel,Peter N. Robinson +60 more
TL;DR: The progress of the HPO project is reviewed, including specific areas of expansion such as common (complex) disease, new algorithms for phenotype driven genomic discovery and diagnostics, integration of cross-species mapping efforts with the Mammalian Phenotype Ontology, an improved quality control pipeline, and the addition of patient-friendly terminology.
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Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources
Sebastian Köhler,Leigh C. Carmody,Nicole Vasilevsky,Julius O.B. Jacobsen,Daniel Danis,Jean-Philippe F. Gourdine,Michael A. Gargano,Nomi L. Harris,Nicolas Matentzoglu,Julie A. McMurry,David Osumi-Sutherland,Valentina Cipriani,James P. Balhoff,Tom Conlin,Hannah Blau,Gareth Baynam,Richard Palmer,Dylan Gratian,Hugh Dawkins,Michael M. Segal,Anna Jansen,Ahmed Muaz,Willie H. Chang,Jenna R.E. Bergerson,Stanley J. F. Laulederkind,Zafer Yüksel,Sergi Beltran,Alexandra F. Freeman,Panagiotis I. Sergouniotis,Daniel Durkin,Andrea L. Storm,Marc Hanauer,Michael Brudno,Susan M. Bello,Murat Sincan,Kayli Rageth,Matthew T. Wheeler,Renske Oegema,Halima Lourghi,Maria G. Della Rocca,Rachel Thompson,Francisco Castellanos,James R. Priest,Charlotte Cunningham-Rundles,Ayushi Hegde,Ruth C. Lovering,Catherine Hajek,Annie Olry,Luigi D. Notarangelo,Morgan Similuk,Xingmin Aaron Zhang,David Gómez-Andrés,Hanns Lochmüller,Hélène Dollfus,Sergio Rosenzweig,Shruti Marwaha,Ana Rath,Kathleen E. Sullivan,Cynthia L. Smith,Joshua D. Milner,Dorothée Leroux,Cornelius F. Boerkoel,Amy D. Klion,Melody C. Carter,Tudor Groza,Damian Smedley,Melissa A. Haendel,Melissa A. Haendel,Christopher J. Mungall,Peter N. Robinson +69 more
TL;DR: The HPO’s interoperability with other ontologies has enabled it to be used to improve diagnostic accuracy by incorporating model organism data and plays a key role in the popular Exomiser tool, which identifies potential disease-causing variants from whole-exome or whole-genome sequencing data.
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The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Christopher J. Mungall,Julie A. McMurry,Sebastian Köhler,James P. Balhoff,Charles D. Borromeo,Matthew H. Brush,Seth Carbon,Tom Conlin,Nathan Dunn,Mark Engelstad,Erin D. Foster,Jean-Philippe F. Gourdine,Julius O.B. Jacobsen,Daniel Keith,Bryan Laraway,Suzanna E. Lewis,Jeremy Nguyen-Xuan,Kent Shefchek,Nicole Vasilevsky,Zhou Yuan,Nicole L. Washington,Harry Hochheiser,Tudor Groza,Damian Smedley,Peter N. Robinson,Melissa A. Haendel +25 more
TL;DR: The Monarch Initiative as discussed by the authors integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search, and develops many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases.