Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer
Authors
Keywords
-
Journal
Biomed Research International
Volume 2017, Issue -, Pages 1-13
Publisher
Hindawi Limited
Online
2017-10-30
DOI
10.1155/2017/8327980
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
- (2015) Anthony A. Philippakis et al. HUMAN MUTATION
- SORTA: a system for ontology-based re-coding and technical annotation of biomedical phenotype data
- (2015) Chao Pang et al. Database-The Journal of Biological Databases and Curation
- The EBI RDF platform: linked open data for the life sciences
- (2014) S. Jupp et al. BIOINFORMATICS
- RD-Connect: An Integrated Platform Connecting Databases, Registries, Biobanks and Clinical Bioinformatics for Rare Disease Research
- (2014) Rachel Thompson et al. JOURNAL OF GENERAL INTERNAL MEDICINE
- Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
- (2014) Warren A. Kibbe et al. NUCLEIC ACIDS RESEARCH
- Egas: a collaborative and interactive document curation platform
- (2014) D. Campos et al. Database-The Journal of Biological Databases and Curation
- The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia
- (2013) Catherine L. Bladen et al. HUMAN MUTATION
- A federated semantic metadata registry framework for enabling interoperability across clinical research and care domains
- (2013) A. Anil Sinaci et al. JOURNAL OF BIOMEDICAL INFORMATICS
- An innovative portal for rare genetic diseases research: The semantic Diseasecard
- (2013) Pedro Lopes et al. JOURNAL OF BIOMEDICAL INFORMATICS
- Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe
- (2013) Catherine L. Bladen et al. JOURNAL OF NEUROLOGY
- Rare-disease genetics in the era of next-generation sequencing: discovery to translation
- (2013) Kym M. Boycott et al. NATURE REVIEWS GENETICS
- COEUS: “semantic web in a box” for biomedical applications
- (2013) Pedro Lopes et al. Journal of Biomedical Semantics
- Ontology mapping using description logic and bridging axioms
- (2012) Sri Krishna Kumar et al. COMPUTERS IN INDUSTRY
- Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users
- (2012) Ana Rath et al. HUMAN MUTATION
- Comparison of the US and Australian Cystic Fibrosis Registries: The Impact of Newborn Screening
- (2012) B. Martin et al. PEDIATRICS
- The value of data
- (2011) Barend Mons et al. NATURE GENETICS
- The Human Phenotype Ontology
- (2010) PN Robinson et al. CLINICAL GENETICS
- Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics
- (2010) David N. Cooper et al. HUMAN MUTATION
- The 1000 Genomes Project: new opportunities for research and social challenges
- (2010) Marc Via et al. Genome Medicine
- Biological data integration using Semantic Web technologies
- (2008) C. Pasquier BIOCHIMIE
- Why rare diseases are an important medical and social issue
- (2008) Arrigo Schieppati et al. LANCET
- 157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands
- (2008) Anna Sárközy et al. NEUROMUSCULAR DISORDERS
- Incentives for orphan drug research and development in the United States
- (2008) Enrique Seoane-Vazquez et al. Orphanet Journal of Rare Diseases
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started