RD-Connect Sample Catalogue
Other names: rd-connect_sample_catalogue
This catalogue is intended to facilitate the discovery of samples and samples data from Rare Diseases biobanks. It also provides information about sample collections and studies done on the registered samples.
Description
More detailed information about this field from each metasource.
This catalogue is intended to facilitate the discovery of samples and samples data from Rare Diseases biobanks. It also provides information about sample collections and studies done on the registered samples.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:44.309708
Webpage:
https://samples.rd-connect.eu/Webpage
More detailed information about this field from each metasource.
https://samples.rd-connect.eu/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:44.309708
Licence:
Name: OtherLicence name
More detailed information about this field from each metasource.
Publications:
Publications
More detailed information about this field from each metasource.
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button
PMID: 21210979
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
Beyond standardization: dynamic software infrastructures for systems biology
PMID: 17297480
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
PMID: 30165396
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
Publications
More detailed information about this field from each metasource.
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button
PMID: 21210979
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
Beyond standardization: dynamic software infrastructures for systems biology
PMID: 17297480
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
PMID: 30165396
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
-
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button
PubMed citations: 43.
43 articles citing: The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button
LongITools: Dynamic longitudinal exposome trajectories in cardiovascular and metabolic noncommunicable diseases. PMID:35169663
Validation of GWAS-Identified Variants for Anti-TNF Drug Response in Rheumatoid Arthritis: A Meta-Analysis of Two Large Cohorts. PMID:34777329
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression. PMID:34475573
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility. PMID:34456334
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital. PMID:34136434
The EU Child Cohort Network's core data: establishing a set of findable, accessible, interoperable and re-usable (FAIR) variables. PMID:33884544
Polymorphisms within Autophagy-Related Genes Influence the Risk of Developing Colorectal Cancer: A Meta-Analysis of Four Large Cohorts. PMID:33809172
Large-scale association analyses identify host factors influencing human gut microbiome composition. PMID:33462485
Thyrotrophin and thyroxine support immune homeostasis in humans. PMID:33454989
Polymorphisms within the TNFSF4 and MAPKAPK2 Loci Influence the Risk of Developing Invasive Aspergillosis: A Two-Stage Case Control Study in the Context of the aspBIOmics Consortium. PMID:33374839
Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome in COL7A1. PMID:33081018
The LifeCycle Project-EU Child Cohort Network: a federated analysis infrastructure and harmonized data of more than 250,000 children and parents. PMID:32705500
Host immune genetic variations influence the risk of developing acute myeloid leukaemia: results from the NuCLEAR consortium. PMID:32678078
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. PMID:32627857
Extending the Minimum Information About BIobank Data Sharing Terminology to Describe Samples, Sample Donors, and Events. PMID:32302498
NFKB2 polymorphisms associate with the risk of developing rheumatoid arthritis and response to TNF inhibitors: Results from the REPAIR consortium. PMID:32152480
The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1. PMID:30621600
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians. PMID:30165396
The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. PMID:29904178
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. PMID:29487416
Cohort profile: design and first results of the Dutch IBD Biobank: a prospective, nationwide biobank of patients with inflammatory bowel disease. PMID:29122790
BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration. PMID:29036577
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. PMID:28963451
Genetic architecture of gene expression underlying variation in host response to porcine reproductive and respiratory syndrome virus infection. PMID:28393889
GAVIN: Gene-Aware Variant INterpretation for medical sequencing. PMID:28093075
BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples. PMID:27936342
Host and Environmental Factors Influencing Individual Human Cytokine Responses. PMID:27814508
Understanding human immune function using the resources from the Human Functional Genomics Project. PMID:27490433
MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks. PMID:27153686
Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels. PMID:25954321
Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections. PMID:25835445
Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration. PMID:25495213
BiobankConnect: software to rapidly connect data elements for pooled analysis across biobanks using ontological and lexical indexing. PMID:25361575
Worm variation made accessible: Take your shopping cart to store, link, and investigate! PMID:24843834
WormQTLHD--a web database for linking human disease to natural variation data in C. elegans. PMID:24217915
Consensus and conflict cards for metabolic pathway databases. PMID:23803311
Semantically enabling a genome-wide association study database. PMID:23244533
COEUS: "semantic web in a box" for biomedical applications. PMID:23244467
WormQTL--public archive and analysis web portal for natural variation data in Caenorhabditis spp. PMID:23180786
Bioinformatics tools and database resources for systems genetics analysis in mice--a short review and an evaluation of future needs. PMID:22396485
xQTL workbench: a scalable web environment for multi-level QTL analysis. PMID:22308096
eXframe: reusable framework for storage, analysis and visualization of genomics experiments. PMID:22103807
Critical assessment of human metabolic pathway databases: a stepping stone for future integration. PMID:21999653 -
Beyond standardization: dynamic software infrastructures for systems biology
PubMed citations: 20.
20 articles citing: Beyond standardization: dynamic software infrastructures for systems biology
Modeling Crop Genetic Resources Phenotyping Information Systems. PMID:31281323
Systems biology: perspectives on multiscale modeling in research on endocrine-related cancers. PMID:30965282
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases. PMID:29487416
CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. PMID:28963451
GeNN: a code generation framework for accelerated brain simulations. PMID:26740369
Engineering bioinformatics: building reliability, performance and productivity into bioinformatics software. PMID:25996054
WormQTLHD--a web database for linking human disease to natural variation data in C. elegans. PMID:24217915
WormQTL--public archive and analysis web portal for natural variation data in Caenorhabditis spp. PMID:23180786
Bioinformatics tools and database resources for systems genetics analysis in mice--a short review and an evaluation of future needs. PMID:22396485
xQTL workbench: a scalable web environment for multi-level QTL analysis. PMID:22308096
Software for systems biology: from tools to integrated platforms. PMID:22048662
Comparative analysis of the human hepatic and adipose tissue transcriptomes during LPS-induced inflammation leads to the identification of differential biological pathways and candidate biomarkers. PMID:21978410
OntoCAT--simple ontology search and integration in Java, R and REST/JavaScript. PMID:21619703
The MOLGENIS toolkit: rapid prototyping of biosoftware at the push of a button. PMID:21210979
Mouse Resource Browser--a database of mouse databases. PMID:20627861
SYSGENET: a meeting report from a new European network for systems genetics. PMID:20623354
XGAP: a uniform and extensible data model and software platform for genotype and phenotype experiments. PMID:20214801
Towards the integration of mouse databases - definition and implementation of solutions to two use-cases in mouse functional genomics. PMID:20205870
designGG: an R-package and web tool for the optimal design of genetical genomics experiments. PMID:19538731
Data capture in bioinformatics: requirements and experiences with Pedro. PMID:18402673 -
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
PubMed citations: 8.
8 articles citing: MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
Advancing tools for human early lifecourse exposome research and translation (ATHLETE): Project overview. PMID:34934888
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. PMID:34075208
The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects. PMID:33740458
Lack of Association Between Genetic Variants at ACE2 and TMPRSS2 Genes Involved in SARS-CoV-2 Infection and Human Quantitative Phenotypes. PMID:32582302
Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design. PMID:32466575
BBMRI-ERIC's contributions to research and knowledge exchange on COVID-19. PMID:32444797
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
The 1000IBD project: multi-omics data of 1000 inflammatory bowel disease patients; data release 1. PMID:30621600
Tags:
Tags
More detailed information about this field from each metasource.
data acquisition
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
medical informatics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:44.309708
Tags
More detailed information about this field from each metasource.
data acquisition
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:44.309708
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:44.309708
medical informatics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:44.309708
data acquisition rare diseases medical informatics
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