GA4GH Beacon
A global search engine for genetic mutations.
Description
More detailed information about this field from each metasource.
A global search engine for genetic mutations.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
Webpage:
https://beacon-network.org//#/Webpage
More detailed information about this field from each metasource.
https://beacon-network.org//#/
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
Publications:
Publications
More detailed information about this field from each metasource.
GENOMICS. A federated ecosystem for sharing genomic, clinical data
PMID: 27284183
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
Publications
More detailed information about this field from each metasource.
GENOMICS. A federated ecosystem for sharing genomic, clinical data
PMID: 27284183
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
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GENOMICS. A federated ecosystem for sharing genomic, clinical data
PubMed citations: 93.
93 articles citing: GENOMICS. A federated ecosystem for sharing genomic, clinical data
Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics. PMID:35346197
GA4GH: International policies and standards for data sharing across genomic research and healthcare. PMID:35072136
Open science, data sharing and solidarity: who benefits? PMID:34762203
A Blockchain-Based Dynamic Consent Architecture to Support Clinical Genomic Data Sharing (ConsentChain): Proof-of-Concept Study. PMID:34730538
Queensland Genomics: an adaptive approach for integrating genomics into a public healthcare system. PMID:34408148
ACO2 clinicobiological dataset with extensive phenotype ontology annotation. PMID:34354088
The Progenetix oncogenomic resource in 2021. PMID:34272855
Haplotype-based membership inference from summary genomic data. PMID:34252973
Tripal, a community update after 10 years of supporting open source, standards-based genetic, genomic and breeding databases. PMID:34251419
The Dockstore: enhancing a community platform for sharing reproducible and accessible computational protocols. PMID:33978761
The Need for a Human Pangenome Reference Sequence. PMID:33929893
Orchestrating privacy-protected big data analyses of data from different resources with R and DataSHIELD. PMID:33784300
The International Hundred Thousand Plus Cohort Consortium: integrating large-scale cohorts to address global scientific challenges. PMID:33103095
The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations. PMID:33083011
Responsible, practical genomic data sharing that accelerates research. PMID:32694666
Identifying disease-causing mutations with privacy protection. PMID:32683440
Bringing Code to Data: Do Not Forget Governance. PMID:32540846
FHIR Lab Reports: using SMART on FHIR and CDS Hooks to increase the clinical utility of pharmacogenomic laboratory test results. PMID:32477691
Lost in Anonymization - A Data Anonymization Reference Classification Merging Legal and Technical Considerations. PMID:32342783
Implementing the VMC Specification to Reduce Ambiguity in Genomic Variant Representation. PMID:32308920
Geographic assessment of cancer genome profiling studies. PMID:32239182
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing. PMID:32090079
Open Data Revolution in Clinical Research: Opportunities and Challenges. PMID:32004409
From the Data on Many, Precision Medicine for "One": The Case for Widespread Genomic Data Sharing. PMID:31988941
Genomic variant sharing: a position statement. PMID:31886409
Integrating Genetic Data into Electronic Health Records: Medical Geneticists' Perspectives. PMID:31777672
The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition. PMID:31691385
Potential risks and solutions for sharing genome summary data from African populations. PMID:31684976
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database. PMID:31500643
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system. PMID:31481752
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data. PMID:31433103
Australian Genomics: A Federated Model for Integrating Genomics into Healthcare. PMID:31271757
Open Humans: A platform for participant-centered research and personal data exploration. PMID:31241153
VarWatch-A stand-alone software tool for variant matching. PMID:31022234
BRCA1/2 Variant Data-Sharing Practices. PMID:30994073
Characterizing the Biomedical Data-Sharing Landscape. PMID:30994069
From Big Data to Precision Medicine. PMID:30881956
Federated discovery and sharing of genomic data using Beacons. PMID:30833764
Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings. PMID:30824715
Building a learning community of Australian clinical genomics: a social network study of the Australian Genomic Health Alliance. PMID:30791916
Opportunities for Patient Matching Algorithms to Improve Patient Care in Oncology. PMID:30657369
Integrating Genomics into Healthcare: A Global Responsibility. PMID:30609404
Ensembl variation resources. PMID:30576484
Towards practical privacy-preserving genome-wide association study. PMID:30572817
BioSamples database: an updated sample metadata hub. PMID:30407529
The Medical Genome Reference Bank: a whole-genome data resource of 4000 healthy elderly individuals. Rationale and cohort design. PMID:30353151
ClinGen advancing genomic data-sharing standards as a GA4GH driver project. PMID:30311379
ClinGen Allele Registry links information about genetic variants. PMID:30311374
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. PMID:30279509
Introduction: the why and whither of genomic data sharing. PMID:30097718
Registered access: authorizing data access. PMID:30069064
Canada: will privacy rules continue to favour open science? PMID:30014188
AnoniMME: bringing anonymity to the Matchmaker Exchange platform for rare disease gene discovery. PMID:29949992
iReceptor: A platform for querying and analyzing antibody/B-cell and T-cell receptor repertoire data across federated repositories. PMID:29944754
Ethical concerns on sharing genomic data including patients' family members. PMID:29914459
Authentication of Patients and Participants in Health Information Exchange and Consent for Medical Research: A Key Step for Privacy Protection, Respect for Autonomy, and Trustworthiness. PMID:29910822
Real-time Protection of Genomic Data Sharing in Beacon Services. PMID:29888039
Genomics and electronic health record systems. PMID:29741693
Public attitudes in Japan toward participation in whole genome sequencing studies. PMID:29653595
Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations. PMID:29592813
Simplifying research access to genomics and health data with Library Cards. PMID:29537396
Transferring Exome Sequencing Data from Clinical Laboratories to Healthcare Providers: Lessons Learned at a Pediatric Hospital. PMID:29515625
Including all voices in international data-sharing governance. PMID:29514717
Toward a Tiered Model to Share Clinical Trial Data and Samples in Precision Oncology. PMID:29435448
Cloud computing for genomic data analysis and collaboration. PMID:29379135
Clinical Impact of Genomic Information in Pediatric Leukemia. PMID:29312903
Preparing for genomic medicine: a real world demonstration of health system change. PMID:29263830
Motivating participation in open science by examining researcher incentives. PMID:29082866
A Review of Recent Advances in Translational Bioinformatics: Bridges from Biology to Medicine. PMID:29063562
Big data management challenges in health research-a literature review. PMID:28968677
The challenges of the expanded availability of genomic information: an agenda-setting paper. PMID:28952070
Emerging Opportunities for Target Discovery in Rare Cancers. PMID:28938087
Settling the score: variant prioritization and Mendelian disease. PMID:28804138
Progress in Rare Diseases Research 2010-2016: An IRDiRC Perspective. PMID:28796411
Aftermath of bustamante attack on genomic beacon service. PMID:28786364
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). PMID:28726806
"Matching" consent to purpose: The example of the Matchmaker Exchange. PMID:28699299
Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally. PMID:28633659
From Rosalind Franklin to Barack Obama: Data Sharing Challenges and Solutions in Genomics and Personalised Medicine. PMID:28517986
Gene patents still alive and kicking: their impact on provision of genetic testing for long QT syndrome in the Canadian public health-care system. PMID:28492533
Open sharing of genomic data: Who does it and why? PMID:28486511
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. PMID:28475856
Addressing Beacon re-identification attacks: quantification and mitigation of privacy risks. PMID:28339683
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. PMID:28263302
Reconciling evidence-based medicine and precision medicine in the era of big data: challenges and opportunities. PMID:27993174
Sharing health-related data: a privacy test? PMID:27990299
Public variant databases: liability? PMID:27977006
Ensembl 2017. PMID:27899575
Findings from the Section on Bioinformatics and Translational Informatics. PMID:27830252
'IRDiRC Recognized Resources': a new mechanism to support scientists to conduct efficient, high-quality research for rare diseases. PMID:27782107
Registered access: a 'Triple-A' approach. PMID:27677416
Implementing genomics and pharmacogenomics in the clinic: The National Human Genome Research Institute's genomic medicine portfolio. PMID:27612677
RESEARCH ETHICS. Ethics review for international data-intensive research. PMID:27013718
Tags:
Tags
More detailed information about this field from each metasource.
genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
population genetics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
data security
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:42.898645
Tags
More detailed information about this field from each metasource.
genetic variation
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
population genetics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
data security
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:42.898645
genetic variation population genetics data security rare diseases
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