Publications by authors named "Tudor Groza"

46Publications

BioHackathon 2015: Semantics of data for life sciences and reproducible research.

F1000Res 2020 24;9:136. Epub 2020 Feb 24.

National Bioscience Database Center, Japan Science and Technology Agency, Tokyo, Japan.

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http://dx.doi.org/10.12688/f1000research.18236.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141167PMC
February 2020

Impacts of genomics on the health and social costs of intellectual disability.

J Med Genet 2020 Jul 24;57(7):479-486. Epub 2020 Jan 24.

Neuroscience Research Australia, Prince of Wales Clinical School, University of New South Wales, Randwick, New South Wales, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2019-106445DOI Listing
July 2020

Cancer Care Treatment Outcome Ontology: A Novel Computable Ontology for Profiling Treatment Outcomes in Patients With Solid Tumors.

JCO Clin Cancer Inform 2018 12;2:1-14

Frank P. Lin and Richard J. Epstein, St Vincent's Hospital and The Kinghorn Cancer Centre; Frank P. Lin, Tudor Groza, Simon Kocbek, and Richard J. Epstein, Garvan Institute of Medical Research, Sydney, Australia; Frank P. Lin, Waikato Hospital, Hamilton, New Zealand; and Erick Antezana, Norwegian University of Science and Technology, Trondheim, Norway.

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http://ascopubs.org/doi/10.1200/CCI.18.00026
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http://dx.doi.org/10.1200/CCI.18.00026DOI Listing
December 2018

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.

Nucleic Acids Res 2019 01;47(D1):D1018-D1027

Monarch Initiative, monarchinitiative.org.

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https://academic.oup.com/nar/advance-article/doi/10.1093/nar
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http://dx.doi.org/10.1093/nar/gky1105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6324074PMC
January 2019

Harmonising phenomics information for a better interoperability in the rare disease field.

Eur J Med Genet 2018 Nov 7;61(11):706-714. Epub 2018 Feb 7.

INSERM, US14 - Orphanet, Plateforme Maladies Rares, 75014 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2018.01.013DOI Listing
November 2018

Matchmaker Exchange.

Curr Protoc Hum Genet 2017 10 18;95:9.31.1-9.31.15. Epub 2017 Oct 18.

The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

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http://dx.doi.org/10.1002/cphg.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6016856PMC
October 2017

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

Am J Hum Genet 2016 09 25;99(3):595-606. Epub 2016 Aug 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestr. 63-73, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.07.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011059PMC
September 2016

PhenoMiner: from text to a database of phenotypes associated with OMIM diseases.

Database (Oxford) 2015 27;2015. Epub 2015 Oct 27.

The Insight Centre for Data Analytics, National University of Ireland, Galway, Ireland.

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http://dx.doi.org/10.1093/database/bav104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4622021PMC
August 2016

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.

Am J Hum Genet 2015 Jul 25;97(1):111-24. Epub 2015 Jun 25.

Institute for Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany; Berlin Brandenburg Center for Regenerative Therapies, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Institute of Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, Takustrasse 9, 14195 Berlin, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572507PMC
July 2015

Concept selection for phenotypes and diseases using learn to rank.

J Biomed Semantics 2015 1;6:24. Epub 2015 Jun 1.

School of ITEE, the University of Queensland, St. Lucia, Australia.

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http://dx.doi.org/10.1186/s13326-015-0019-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450611PMC
June 2015

Capturing domain knowledge from multiple sources: the rare bone disorders use case.

J Biomed Semantics 2015 17;6:21. Epub 2015 Apr 17.

Children's Hospital, Westmead, The University of Sydney, Sydney, New South Wales Australia.

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http://dx.doi.org/10.1186/s13326-015-0008-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414390PMC
April 2015

Assessing the impact of case sensitivity and term information gain on biomedical concept recognition.

PLoS One 2015 19;10(3):e0119091. Epub 2015 Mar 19.

Department of Computing and Information Systems, The University of Melbourne, Melbourne, Australia; Health and Biomedical Informatics Centre, The University of Melbourne, Melbourne, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0119091PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366016PMC
February 2016

Automatic concept recognition using the human phenotype ontology reference and test suite corpora.

Database (Oxford) 2015 27;2015. Epub 2015 Feb 27.

School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informatics Group, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK, LASIGE, Departamento de Informática, Faculdade de Ciências, Universidade de Lisboa, 1749-016 Lisboa, Portugal, Genetic Services of Western Australia, King Edward Memorial Hospital, WA 6008, Australia, School of Paediatrics and Child Health, University of Western Australia, WA 6008, Australia, Institute for Immunology and Infectious Diseases, Murdoch University, WA 6150, Australia, Office of Population Health, Public Health and Clinical Services Division, Western Australian Department of Health, WA 6004, Australia, Academic Department of Medical Genetics, Sydney Children's Hospitals Network (Westmead), NSW 2145, Australia, Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, NSW 2006, Australia, Max Planck Institute for Molecular Genetics, 14195 Berlin, Germany, Institute for Bioinformatics, Department of Mathematics and Computer Science, Freie Universität Berlin, 14195 Berlin, Germany and Berlin Brandenburg Center for Regenerative Therapies, 13353 Berlin, Germany School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia, Garvan Institute of Medical Research, Darlinghurst, Sydney, NSW 2010, Australia, Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, European Bioinformatics Institute (EMBL-EBI), Wellcome Trust Genome Campus, Hinxton, Cambridge, UK, National Institute of Informatics, Hitotsubashi, Tokyo, Japan, Mouse Informa

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http://dx.doi.org/10.1093/database/bav005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4343077PMC
September 2015

Generation of silver standard concept annotations from biomedical texts with special relevance to phenotypes.

PLoS One 2015 21;10(1):e0116040. Epub 2015 Jan 21.

School of ITEE, The University of Queensland, St. Lucia, QLD 4072, Australia; Garvan Institute of Medical Research, 384 Victoria Street, Darlinghurst, NSW 2010, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0116040PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4301805PMC
January 2016

Phenotyping: targeting genotype's rich cousin for diagnosis.

J Paediatr Child Health 2015 Apr 11;51(4):381-6. Epub 2014 Aug 11.

Genetic Services of Western Australia, Princess Margaret Hospital for Children, Perth, Western Australia, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia; Office of Population Health Genomics, Department of Health, Government of Western Australia, Perth, Western Australia, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, Western Australia, Australia.

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http://dx.doi.org/10.1111/jpc.12705DOI Listing
April 2015

Identifying scientific artefacts in biomedical literature: the Evidence Based Medicine use case.

J Biomed Inform 2014 Jun 14;49:159-70. Epub 2014 Feb 14.

School of ITEE, The University of Queensland, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15320464140004
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http://dx.doi.org/10.1016/j.jbi.2014.02.006DOI Listing
June 2014

Semantic interestingness measures for discovering association rules in the skeletal dysplasia domain.

J Biomed Semantics 2014 Feb 5;5(1). Epub 2014 Feb 5.

School of ITEE, The University of Queensland, St, Lucia, Queensland 4072, Australia.

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http://dx.doi.org/10.1186/2041-1480-5-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3936824PMC
February 2014

Inferring characteristic phenotypes via class association rule mining in the bone dysplasia domain.

J Biomed Inform 2014 Apr 10;48:73-83. Epub 2013 Dec 10.

Bone Dysplasia Research Group, UQ Centre for Clinical Research (UQCCR), The University of Queensland, Australia; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jbi.2013.12.001DOI Listing
April 2014

Using typed dependencies to study and recognise conceptualisation zones in biomedical literature.

Authors:
Tudor Groza

PLoS One 2013 18;8(11):e79570. Epub 2013 Nov 18.

School of Information, Telecommunications, and Electronics Engineering, The University of Queensland, Queensland, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079570PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3832541PMC
July 2014

Recognizing scientific artifacts in biomedical literature.

Biomed Inform Insights 2013 2;6:15-27. Epub 2013 Apr 2.

School of ITEE, University of Queensland, Australia.

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http://dx.doi.org/10.4137/BII.S11572DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3623603PMC
May 2013

Decomposing phenotype descriptions for the human skeletal phenome.

Biomed Inform Insights 2013 4;6:1-14. Epub 2013 Feb 4.

School of ITEE, The University of Queensland, Australia.

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http://dx.doi.org/10.4137/BII.S10729DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3572876PMC
February 2013

Mining skeletal phenotype descriptions from scientific literature.

PLoS One 2013 8;8(2):e55656. Epub 2013 Feb 8.

School of ITEE, The University of Queensland, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0055656PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3568099PMC
September 2013

Decision support methods for finding phenotype--disorder associations in the bone dysplasia domain.

PLoS One 2012 30;7(11):e50614. Epub 2012 Nov 30.

School of ITEE, The University of Queensland, St. Lucia, Queensland, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0050614PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511538PMC
May 2013

State of the art and open challenges in community-driven knowledge curation.

J Biomed Inform 2013 Feb 3;46(1):1-4. Epub 2012 Dec 3.

School of ITEE, The University of Queensland, Queensland, Australia.

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http://dx.doi.org/10.1016/j.jbi.2012.11.007DOI Listing
February 2013

Supervised segmentation of phenotype descriptions for the human skeletal phenome using hybrid methods.

BMC Bioinformatics 2012 Oct 15;13:265. Epub 2012 Oct 15.

School of ITEE, The University of Queensland, Brisbane, Australia.

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http://bmcbioinformatics.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1471-2105-13-265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495645PMC
October 2012

The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain.

BMC Bioinformatics 2012 Mar 26;13:50. Epub 2012 Mar 26.

School of ITEE, The University of Queensland, St, Lucia, Australia.

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http://bmcbioinformatics.biomedcentral.com/articles/10.1186/
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http://dx.doi.org/10.1186/1471-2105-13-50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338382PMC
March 2012