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Volumn 2017, Issue , 2017, Pages

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

(22)  Sernadela, Pedro a   González Castro, Lorena b   Carta, Claudio c   Van Der Horst, Eelke d   Lopes, Pedro a   Kaliyaperumal, Rajaram d   Thompson, Mark d   Thompson, Rachel e   Queralt Rosinach, Núria f   Lopez, Estrella g   Wood, Libby e   Robertson, Agata e   Lamanna, Claudia h   Gilling, Mette h   Orth, Michael h   Merino Martinez, Roxana i   Posada, Manuel g   Taruscio, Domenica c   Lochmüller, Hanns e   Robinson, Peter j   more..


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL RESEARCH; DISEASE REGISTRY; HUMAN; PATIENT CARE; PERSONALIZED MEDICINE; PUBLISHING; RARE DISEASE; SEMANTIC WEB; WORKFLOW; BIOLOGY; DATABASE MANAGEMENT SYSTEM; FACTUAL DATABASE; INFORMATION DISSEMINATION; INFORMATION RETRIEVAL; INTERNET; PROCEDURES; REGISTER; SOFTWARE; STATISTICS AND NUMERICAL DATA;

EID: 85042161013     PISSN: 23146133     EISSN: 23146141     Source Type: Journal    
DOI: 10.1155/2017/8327980     Document Type: Article
Times cited : (31)

References (42)
  • 3
    • 44849143056 scopus 로고    scopus 로고
    • Why rare diseases are an important medical and social issue
    • A. Schieppati, J.-I. Henter, E. Daina, and A. Aperia, "Why rare diseases are an important medical and social issue," The Lancet, vol. 371, no. 9629, pp. 2039-2041, 2008.
    • (2008) The Lancet , vol.371 , Issue.9629 , pp. 2039-2041
    • Schieppati, A.1    Henter, J.-I.2    Daina, E.3    Aperia, A.4
  • 4
    • 77952733302 scopus 로고    scopus 로고
    • Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
    • D. N. Cooper, J.-M. Chen, E. V. Ball et al., "Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics," Human Mutation, vol. 31, no. 6, pp. 631-655, 2010.
    • (2010) Human Mutation , vol.31 , Issue.6 , pp. 631-655
    • Cooper, D.N.1    Chen, J.-M.2    Ball, E.V.3
  • 6
  • 7
    • 84884416457 scopus 로고    scopus 로고
    • Rare-disease genetics in the era of next-generation sequencing: Discovery to translation
    • K. M. Boycott, M. R. Vanstone, D. E. Bulman, and A. E. MacKenzie, "Rare-disease genetics in the era of next-generation sequencing: Discovery to translation," Nature Reviews Genetics, vol. 14, no. 10, pp. 681-691, 2013.
    • (2013) Nature Reviews Genetics , vol.14 , Issue.10 , pp. 681-691
    • Boycott, K.M.1    Vanstone, M.R.2    Bulman, D.E.3    MacKenzie, A.E.4
  • 9
    • 33745172773 scopus 로고    scopus 로고
    • A journey of hope: Lessons learned from studies on rare diseases and orphan drugs
    • M. Wästfelt, B. Fadeel, and J.-I. Henter, "A journey of hope: Lessons learned from studies on rare diseases and orphan drugs," Journal of Internal Medicine, vol. 260, no. 1, pp. 1-10, 2006.
    • (2006) Journal of Internal Medicine , vol.260 , Issue.1 , pp. 1-10
    • Wästfelt, M.1    Fadeel, B.2    Henter, J.-I.3
  • 10
  • 11
    • 84904751123 scopus 로고    scopus 로고
    • COEUS: "semantic web in a box" for biomedical applications
    • P. Lopes and J. Luís Oliveira, "COEUS: "semantic web in a box" for biomedical applications," Journal of Biomedical Semantics, vol. 3, no. 1, article 11, 2012.
    • (2012) Journal of Biomedical Semantics , vol.3 , Issue.1
    • Lopes, P.1    Luís Oliveira, J.2
  • 12
    • 0037903275 scopus 로고    scopus 로고
    • Human GeneMutation Database (HGMD®): 2003 update
    • P. D. Stenson, E. V. Ball, M. Mort et al., "Human GeneMutation Database (HGMD®): 2003 update," Human Mutation, vol. 21, no. 6, pp. 577-581, 2003.
    • (2003) Human Mutation , vol.21 , Issue.6 , pp. 577-581
    • Stenson, P.D.1    Ball, E.V.2    Mort, M.3
  • 13
    • 77952586314 scopus 로고    scopus 로고
    • The 1000 genomes project: New opportunities for research and social challenges
    • M. Via, C. Gignoux, and E. G. Burchard, "The 1000 genomes project: new opportunities for research and social challenges," Genome Medicine, vol. 2, no. 1, article 3, 2010.
    • (2010) Genome Medicine , vol.2 , Issue.1
    • Via, M.1    Gignoux, C.2    Burchard, E.G.3
  • 15
    • 84864358886 scopus 로고    scopus 로고
    • Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users
    • A. Rath, A. Olry, F. Dhombres, M. M. Brandt, B. Urbero, and S. Ayme, "Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users," Human Mutation, vol. 33, no. 5, pp. 803-808, 2012.
    • (2012) Human Mutation , vol.33 , Issue.5 , pp. 803-808
    • Rath, A.1    Olry, A.2    Dhombres, F.3    Brandt, M.M.4    Urbero, B.5    Ayme, S.6
  • 16
    • 84888205095 scopus 로고    scopus 로고
    • An innovative portal for rare genetic diseases research: The semantic Diseasecard
    • P. Lopes and J. L. Oliveira, "An innovative portal for rare genetic diseases research: The semantic Diseasecard," Journal of Biomedical Informatics, vol. 46, no. 6, pp. 1108-1115, 2013.
    • (2013) Journal of Biomedical Informatics , vol.46 , Issue.6 , pp. 1108-1115
    • Lopes, P.1    Oliveira, J.L.2
  • 17
    • 84893295727 scopus 로고    scopus 로고
    • Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
    • C. L. Bladen, R. Thompson, J. M. Jackson et al., "Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe," Journal of Neurology, vol. 261, no. 1, pp. 152-163, 2014.
    • (2014) Journal of Neurology , vol.261 , Issue.1 , pp. 152-163
    • Bladen, C.L.1    Thompson, R.2    Jackson, J.M.3
  • 18
    • 84878969957 scopus 로고    scopus 로고
    • Non-pulmonary chronic diseases in adults with cystic fibrosis: Analysis of data from the cystic fibrosis registry
    • R. Somerville, A. Jackson, S. Zhou, G. Fletcher, and P. Fitzpatrick, "Non-pulmonary chronic diseases in adults with cystic fibrosis: Analysis of data from the cystic fibrosis registry," Irish Medical Journal, vol. 106, no. 6, 2013.
    • (2013) Irish Medical Journal , vol.106 , Issue.6
    • Somerville, R.1    Jackson, A.2    Zhou, S.3    Fletcher, G.4    Fitzpatrick, P.5
  • 19
    • 84856541302 scopus 로고    scopus 로고
    • Comparison of the US and Australian cystic fibrosis registries: Theimpact of newborn screening
    • B. Martin, M. S. Schechter, A. Jaffe, P. Cooper, S. C. Bell, and S. Ranganathan, "Comparison of the US and Australian cystic fibrosis registries: Theimpact of newborn screening," Pediatrics, vol. 129, no. 2, pp. e348-e355, 2012.
    • (2012) Pediatrics , vol.129 , Issue.2 , pp. e348-e355
    • Martin, B.1    Schechter, M.S.2    Jaffe, A.3    Cooper, P.4    Bell, S.C.5    Ranganathan, S.6
  • 20
    • 56649111213 scopus 로고    scopus 로고
    • 157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, the Netherlands
    • A. Sárközy, K. Bushby, C. Béroud, and H. Lochmüller, "157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25-27 January 2008 Naarden, The Netherlands," Neuromuscular Disorders, vol. 18, no. 12, pp. 997-1001, 2008.
    • (2008) Neuromuscular Disorders , vol.18 , Issue.12 , pp. 997-1001
    • Sárközy, A.1    Bushby, K.2    Béroud, C.3    Lochmüller, H.4
  • 21
    • 84885419981 scopus 로고    scopus 로고
    • The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia
    • C. L. Bladen, K. Rafferty, V. Straub et al., "The TREAT-NMD duchenne muscular dystrophy registries: Conception, design, and utilization by industry and academia," Human Mutation, vol. 34, no. 11, pp. 1449-1457, 2013.
    • (2013) Human Mutation , vol.34 , Issue.11 , pp. 1449-1457
    • Bladen, C.L.1    Rafferty, K.2    Straub, V.3
  • 22
    • 0345863927 scopus 로고    scopus 로고
    • The Unified Medical Language System (UMLS): Integrating biomedical terminology
    • O. Bodenreider, "The Unified Medical Language System (UMLS): integrating biomedical terminology," Nucleic Acids Research, vol. 32, pp. D267-D270, 2004.
    • (2004) Nucleic Acids Research , vol.32 , pp. D267-D270
    • Bodenreider, O.1
  • 24
    • 77953936166 scopus 로고    scopus 로고
    • The human phenotype ontology
    • P. N. Robinson and S. Mundlos, "The Human Phenotype Ontology," Clinical Genetics, vol. 77, no. 6, pp. 525-534, 2010.
    • (2010) Clinical Genetics , vol.77 , Issue.6 , pp. 525-534
    • Robinson, P.N.1    Mundlos, S.2
  • 25
    • 84905859770 scopus 로고    scopus 로고
    • RD-Connect: An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
    • R. Thompson, L. Johnston, D. Taruscio et al., "RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research," Journal of General Internal Medicine, vol. 29, no. 3, pp. S780-S787, 2014.
    • (2014) Journal of General Internal Medicine , vol.29 , Issue.3 , pp. S780-S787
    • Thompson, R.1    Johnston, L.2    Taruscio, D.3
  • 26
    • 84941873668 scopus 로고    scopus 로고
    • The matchmaker exchange: A platform for rare disease gene discovery
    • A. A. Philippakis, D. R. Azzariti, S. Beltran et al., "The matchmaker exchange: a platform for rare disease gene discovery," Human Mutation, vol. 36, no. 10, pp. 915-921, 2015.
    • (2015) Human Mutation , vol.36 , Issue.10 , pp. 915-921
    • Philippakis, A.A.1    Azzariti, D.R.2    Beltran, S.3
  • 27
    • 84899523552 scopus 로고    scopus 로고
    • The EBI RDF platform: Linked open data for the life sciences
    • S. Jupp, J. Malone, J. Bolleman et al., "The EBI RDF platform: linked open data for the life sciences," Bioinformatics, vol. 30, no. 9, pp. 1338-1339, 2014.
    • (2014) Bioinformatics , vol.30 , Issue.9 , pp. 1338-1339
    • Jupp, S.1    Malone, J.2    Bolleman, J.3
  • 31
    • 22044451327 scopus 로고    scopus 로고
    • Ontologies and semantic data integration
    • S. P. Gardner, "Ontologies and semantic data integration," Drug Discovery Therapy, vol. 10, no. 14, pp. 1001-1007, 2005.
    • (2005) Drug Discovery Therapy , vol.10 , Issue.14 , pp. 1001-1007
    • Gardner, S.P.1
  • 32
    • 41149160103 scopus 로고    scopus 로고
    • Biological data integration using Semantic Web technologies
    • C. Pasquier, "Biological data integration using Semantic Web technologies," Biochimie, vol. 90, no. 4, pp. 584-594, 2008.
    • (2008) Biochimie , vol.90 , Issue.4 , pp. 584-594
    • Pasquier, C.1
  • 34
    • 80053025550 scopus 로고    scopus 로고
    • Mapping orphanet terminology to UMLS
    • M. Peleg, N. Lavrac, and C. Combi, Eds., Springer, Berlin, Germany
    • M. Milicic Brandt, A. Rath, A. Devereau, and S. Aymé, "Mapping orphanet terminology to UMLS," in Artificial Intelligence in Medicine, M. Peleg, N. Lavrac, and C. Combi, Eds., vol. 6747, pp. 194-203, Springer, Berlin, Germany, 2011.
    • (2011) Artificial Intelligence in Medicine , vol.6747 , pp. 194-203
    • Milicic Brandt, M.1    Rath, A.2    Devereau, A.3    Aymé, S.4
  • 36
    • 84943178454 scopus 로고    scopus 로고
    • SORTA: A system for ontology-based re-coding and technical annotation of biomedical phenotype data
    • C. Pang, A. Sollie, A. Sijtsma et al., "SORTA: A system for ontology-based re-coding and technical annotation of biomedical phenotype data," Database, vol. 2015, article bav089, 2015.
    • (2015) Database , vol.2015
    • Pang, C.1    Sollie, A.2    Sijtsma, A.3
  • 37
    • 84987673679 scopus 로고    scopus 로고
    • Egas: A collaborative and interactive document curation platform
    • D. Campos, J. Lourenço, S. Matos, and J. L. Oliveira, "Egas: a collaborative and interactive document curation platform," Database, vol. 2014, 2014.
    • (2014) Database , vol.2014
    • Campos, D.1    Lourenço, J.2    Matos, S.3    Oliveira, J.L.4
  • 38
    • 84941103725 scopus 로고    scopus 로고
    • Disease Ontology 2015 update: An expanded and updated database of human diseases for linking biomedical knowledge through disease data
    • W. A. Kibbe, C. Arze, V. Felix et al., "Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data," Nucleic Acids Research, vol. 43, no. 1, pp. D1071-D1078, 2015.
    • (2015) Nucleic Acids Research , vol.43 , Issue.1 , pp. D1071-D1078
    • Kibbe, W.A.1    Arze, C.2    Felix, V.3
  • 41
    • 84870292217 scopus 로고    scopus 로고
    • Ontology mapping using description logic and bridging axioms
    • S. K. Kumar and J. A. Harding, "Ontology mapping using description logic and bridging axioms," Computers in Industry, vol. 64, no. 1, pp. 19-28, 2013.
    • (2013) Computers in Industry , vol.64 , Issue.1 , pp. 19-28
    • Kumar, S.K.1    Harding, J.A.2
  • 42
    • 84883756898 scopus 로고    scopus 로고
    • A federated semantic metadata registry framework for enabling interoperability across clinical research and care domains
    • A. A. Sinaci and G. B. Laleci Erturkmen, "A federated semantic metadata registry framework for enabling interoperability across clinical research and care domains," Journal of Biomedical Informatics, vol. 46, no. 5, pp. 784-794, 2013.
    • (2013) Journal of Biomedical Informatics , vol.46 , Issue.5 , pp. 784-794
    • Sinaci, A.A.1    Laleci Erturkmen, G.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.