PhenomeCentral
Repository for clinicians and scientists working in the rare disorder community. It enables secure sharing of case records by clinicians and rare disease scientists and helps the user to find additional cases of the same unnamed disorder. The repository identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole-exome data, and candidate genes entered by the users.
Description
More detailed information about this field from each metasource.
Repository for clinicians and scientists working in the rare disorder community. It enables secure sharing of case records by clinicians and rare disease scientists and helps the user to find additional cases of the same unnamed disorder. The repository identifies similar patients in the database based on semantic similarity between clinical features, automatically prioritized genes from whole-exome data, and candidate genes entered by the users.
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:43.371341
Webpage:
https://phenomecentral.orgWebpage
More detailed information about this field from each metasource.
Publications:
Publications
More detailed information about this field from each metasource.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
PMID: 26251998
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.371341
Publications
More detailed information about this field from each metasource.
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
PMID: 26251998
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.371341
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PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
PubMed citations: 50.
50 articles citing: PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases
Invertebrate Model Organisms as a Platform to Investigate Rare Human Neurological Diseases. PMID:35256540
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome. PMID:35220969
Intellectual disability genomics: current state, pitfalls and future challenges. PMID:34930158
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. PMID:33924139
From fuzziness to precision medicine: on the rapidly evolving proteomics with implications in mitochondrial connectivity to rare human disease. PMID:33521598
The Human Phenotype Ontology in 2021. PMID:33264411
Mitochondria under the spotlight: On the implications of mitochondrial dysfunction and its connectivity to neuropsychiatric disorders. PMID:33033576
Diagnosis of Rare Diseases: a scoping review of clinical decision support systems. PMID:32972444
Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study. PMID:32946487
Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network. PMID:32928283
The undiagnosed diseases program: Approach to diagnosis. PMID:32477883
Data Sharing Advances Rare and Neglected Disease Clinical Research and Treatments. PMID:32259080
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics. PMID:31479590
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative. PMID:31417602
Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy. PMID:31227780
VarWatch-A stand-alone software tool for variant matching. PMID:31022234
Uncovering Missing Heritability in Rare Diseases. PMID:30987386
Federated discovery and sharing of genomic data using Beacons. PMID:30833764
Diagnosing rare diseases after the exome. PMID:30559314
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease. PMID:30304647
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues. PMID:30248891
PubCaseFinder: A Case-Report-Based, Phenotype-Driven Differential-Diagnosis System for Rare Diseases. PMID:30173820
SpainUDP: The Spanish Undiagnosed Rare Diseases Program. PMID:30110963
Registered access: authorizing data access. PMID:30069064
[From symptom to syndrome using modern software support]. PMID:29995249
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes. PMID:29961570
Paediatric genomics: diagnosing rare disease in children. PMID:29398702
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability. PMID:29258477
Matchmaker Exchange. PMID:29044468
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research. PMID:28874452
"Matching" consent to purpose: The example of the Matchmaker Exchange. PMID:28699299
WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features. PMID:28686853
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience. PMID:28603714
International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases. PMID:28475856
Semantic prioritization of novel causative genomic variants. PMID:28414800
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease. PMID:28157539
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. PMID:28132690
Patient Similarity: Emerging Concepts in Systems and Precision Medicine. PMID:27932992
The Human Phenotype Ontology in 2017. PMID:27899602
'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
Explorations to improve the completeness of exome sequencing. PMID:27568008
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges. PMID:27504451
State of rare disease management in Southeast Asia. PMID:27484654
A Clinician's perspective on clinical exome sequencing. PMID:27126233
Novel bioinformatic developments for exome sequencing. PMID:27075447
Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features. PMID:26656649
Human genotype-phenotype databases: aims, challenges and opportunities. PMID:26553330
The Matchmaker Exchange: a platform for rare disease gene discovery. PMID:26295439
The Matchmaker Exchange API: automating patient matching through the exchange of structured phenotypic and genotypic profiles. PMID:26255989
Tags:
Tags
More detailed information about this field from each metasource.
genotype and phenotype
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.371341
rare diseases
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.371341
phenomics
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.371341
genetic variation
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.371341
data integration and warehousing
metasource: bio.tools
version: extracted_at: 2022-11-04T11:30:43.371341
Tags
More detailed information about this field from each metasource.
genotype and phenotype
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:43.371341
rare diseases
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:43.371341
phenomics
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:43.371341
genetic variation
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:43.371341
data integration and warehousing
metasource: bio.toolsversion: extracted_at: 2022-11-04T11:30:43.371341
genotype and phenotype rare diseases phenomics genetic variation data integration and warehousing
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