RD-connect
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Integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
Description
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Integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:56.639556
Webpage:
http://catalogue.rd-connect.euWebpage
More detailed information about this field from each metasource.
http://catalogue.rd-connect.eu
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:56.639556
Publications:
Publications
More detailed information about this field from each metasource.
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
PMID: 25029978
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:56.639556
Publications
More detailed information about this field from each metasource.
RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
PMID: 25029978
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:56.639556
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RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
PubMed citations: 73.
73 articles citing: RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
Patients' priorities and expectations on an EU registry for rare bone and mineral conditions. PMID:34732217
Concept libraries for automatic electronic health record based phenotyping: A review. PMID:34189274
Pathway analysis for genome-wide genetic variation data: Analytic principles, latest developments, and new opportunities. PMID:33896739
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019. PMID:33843694
Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1. PMID:33553934
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. PMID:33513338
Mapping, Infrastructure, and Data Analysis for the Brazilian Network of Rare Diseases: Protocol for the RARASnet Observational Cohort Study. PMID:33480849
Preferences for Accessing Electronic Health Records for Research Purposes: Views of Parents Who Have a Child With a Known or Suspected Genetic Condition. PMID:33248520
An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD). PMID:33183351
Interoperability of population-based patient registries. PMID:32838295
Weighted correlation network bioinformatics uncovers a key molecular biosignature driving the left-sided heart failure. PMID:32620106
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. PMID:32619640
The use of machine learning in rare diseases: a scoping review. PMID:32517778
Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD. PMID:32487215
Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum. PMID:32041641
Genomic variant sharing: a position statement. PMID:31886409
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force. PMID:31615551
Comparison of Causative Variant Prioritization Tools Using Next-generation Sequencing Data in Japanese Patients with Mendelian Disorders. PMID:31582890
National platform for Rare Diseases Data Registry of Japan. PMID:31317070
Share and protect our health data: an evidence based approach to rare disease patients' perspectives on data sharing and data protection - quantitative survey and recommendations. PMID:31300010
Research activity and capability in the European reference network MetabERN. PMID:31142374
Challenges for learning health systems in the NHS. Case study: electronic health records in cardiology. PMID:31098470
Exploiting machine learning for end-to-end drug discovery and development. PMID:31000803
An ontological foundation for ocular phenotypes and rare eye diseases. PMID:30626441
Attitudes of publics who are unwilling to donate DNA data for research. PMID:30476628
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources. PMID:30476213
Federating patients identities: the case of rare diseases. PMID:30419918
HmtVar: a new resource for human mitochondrial variations and pathogenicity data. PMID:30371888
The Italian neuromuscular registry: a coordinated platform where patient organizations and clinicians collaborate for data collection and multiple usage. PMID:30286784
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. PMID:30185236
National information system for rare diseases with an approach to data architecture: A systematic review. PMID:30181934
SpainUDP: The Spanish Undiagnosed Rare Diseases Program. PMID:30110963
The Occurrence of 275 Rare Diseases and 47 Rare Disease Groups in Italy. Results from the National Registry of Rare Diseases. PMID:30002291
Quality of health care in adolescents and adults with disorders/differences of sex development (DSD) in six European countries (dsd-LIFE). PMID:29976186
VarAFT: a variant annotation and filtration system for human next generation sequencing data. PMID:29860484
MECP2 variation in Rett syndrome-An overview of current coverage of genetic and phenotype data within existing databases. PMID:29704307
Registry Contributions to Strengthen Cell and Gene Therapeutic Evidence. PMID:29685384
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers. PMID:29396563
An overview of the impact of rare disease characteristics on research methodology. PMID:29351763
Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer. PMID:29214177
Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions. PMID:29125502
MRC Centre Neuromuscular Biobank (Newcastle and London): Supporting and facilitating rare and neuromuscular disease research worldwide. PMID:28864117
Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective. PMID:28796445
Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective. PMID:28796411
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. PMID:28475856
Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery. PMID:28412959
The UK Myotonic Dystrophy Patient Registry: facilitating and accelerating clinical research. PMID:28397002
Design of the Familial Hypercholesterolaemia Australasia Network Registry: Creating Opportunities for Greater International Collaboration. PMID:28344196
SCALEUS: Semantic Web Services Integration for Biomedical Applications. PMID:28214993
The ethical framework for performing research with rare inherited neurometabolic disease patients. PMID:28093642
Proposal for a Prospective Registry for Moyamoya Disease in Japan. PMID:28070115
BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples. PMID:27936342
The Human Phenotype Ontology in 2017. PMID:27899602
Looking Forward to New Therapies: A Personal Perspective on the Translational Landscape for Muscular Dystrophies. PMID:27858762
Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy - September 24-26, 2015, Ottawa, Canada. PMID:27854234
Increasing Role of Titin Mutations in Neuromuscular Disorders. PMID:27854229
The RUDY study platform - a novel approach to patient driven research in rare musculoskeletal diseases. PMID:27825362
The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks. PMID:27776540
Exploring and visualizing multidimensional data in translational research platforms. PMID:27585944
Making sense of big data in health research: Towards an EU action plan. PMID:27338147
215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands. PMID:27312024
Computational approaches in target identification and drug discovery. PMID:27293534
Design, set-up and utility of the UK facioscapulohumeral muscular dystrophy patient registry. PMID:27159994
Novel bioinformatic developments for exome sequencing. PMID:27075447
Limb-girdle muscular dystrophies - international collaborations for translational research. PMID:27033376
Improving the informed consent process in international collaborative rare disease research: effective consent for effective research. PMID:26860059
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
Challenges and Opportunities for Exploring Patient-Level Data. PMID:26504779
Innovative genomic collaboration using the GENESIS (GEM.app) platform. PMID:26173844
The challenge for a European network of biobanks for rare diseases taken up by RD-Connect. PMID:25792211
Pathway mapping and development of disease-specific biomarkers: protein-based network biomarkers. PMID:25560835
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases. PMID:25537360
The Italian National Centre for Rare Diseases: where research and public health translate into action. PMID:24922300
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biobank
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:56.639556
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:56.639556
medical informatics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:56.639556
Tags
More detailed information about this field from each metasource.
biobank
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:56.639556
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:56.639556
medical informatics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:56.639556
biobank rare diseases medical informatics
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