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PhenomeCentral specifications


Unique identifier OMICS_09731
Name PhenomeCentral
Restrictions to use None
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Michael Brudno

Publication for PhenomeCentral

PhenomeCentral citations


Computer face matching technology using two dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disability

BMC Biotechnol
PMCID: 5735520
PMID: 29258477
DOI: 10.1186/s12896-017-0410-1

[…] very.The need for detailed phenotyping in the era of MPS has led to deep phenotyping projects based on the human phenotype ontology [] and international collaborative initiatives such as Decipher [], phenomecentral [], Genematcher [], mygene2 [] and Matchmaker Exchange []. In addition to a range of physical, cognitive and behavioural characteristics, deep phenotyping software requires the clinicia […]


Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

PMCID: 5586389
PMID: 28874452
DOI: 10.1534/genetics.117.203067

[…] rise the Matchmaker Exchange (MME) () allows the identification of patients with similar phenotypes and genotypes across different platforms. In Matchmaker Exchange, databases such as GeneMatcher (), PhenomeCentral (), DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) (), MyGene2 (), matchbox/seqr, and Australian Genomics Health Alliance (AGHA) Patient Archiv […]


The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges

PMCID: 4959014
PMID: 27504451
DOI: 10.3389/fcvm.2016.00022

[…] nal Standards for Cytogenomic Arrays Consortium, ClinVar utilizes the HPO to define phenotypes and structure data. A number of other databases containing genotype–phenotype data, such as DECIPHER and PhenomeCentral, also utilize the HPO (, ).Whereas the usage of the HPO has increased among genetics providers and investigators, there are many alternative phenotype classification systems in practice […]


Human genome meeting 2016

Hum Genomics
PMCID: 4896275
PMID: 27294413
DOI: 10.1186/s40246-016-0063-5

[…] art of the Matchmaker Exchange (MME) (, we have also developed an API that was implemented in August 2015 and allows the GeneMatcher users to submit their data to query PhenomeCentral and/or DECIPHER. Also, as part of the MME we have been working with other matchmaker databases on the API implementation to connect them to GeneMatcher and have been working on the vers […]


Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features

PMCID: 4902791
PMID: 26656649
DOI: 10.1038/gim.2015.161

[…] causal relationship. This is the rationale for developing infrastructure for large-scale release of combined genotype-to-structured phenotype data (e.g. Geno2MP), structured phenotype matching (e.g. PhenomeCentral), gene matching (e.g. GeneMatcher, and variant matching (e.g. GenomeConnect, Decipher/DDD,), which are being coordinated via efforts such as Matchmaker Exchange.Few, if any, formal reso […]


Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

Genet Med
PMCID: 4916229
PMID: 26562225
DOI: 10.1038/gim.2015.137

[…] tilized by the algorithm. For families with phenotype data from multiple affected individuals, we used the intersection of the HPO terms. All patient data (phenotypes and exomes) were uploaded to the PhenomeCentral patient-matching portal ( to identify patients with similar phenotypes and candidate genetic mechanisms. […]


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PhenomeCentral institution(s)
Department of Computer Science, University of Toronto, Toronto, Canada; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, USA; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany

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