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MyGene2 specifications


Unique identifier OMICS_16599
Name MyGene2
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes


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MyGene2 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

[…] ing 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 clinician to accurately observe, interpret […]


Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

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

[…] s 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 Archive are connected to one another, thereby supporting queries of data from >20,000 unrelated patients, and facilita […]


Genome Informatics 2016

Genome Biol
PMCID: 5240446
PMID: 28093077
DOI: 10.1186/s13059-016-1135-5

[…] Several talks covered systems and new technologies that clinicians, patients, and researchers can use to understand human genomic variation. Jessica Chong (University of Washington, USA) described MyGene2 (, a website that allows families to share their de-identified personal data and find other families with similar traits. Jennifer Harrow (Illumina, UK) discussed using Base […]


A de novo frameshift in HNRNPK causing a Kabuki‐like syndrome with nodular heterotopia

Clin Genet
PMCID: 5006848
PMID: 26954065
DOI: 10.1111/cge.12773

[…] For the remaining rare genetic disorders in which the underlying molecular mechanisms have not yet been determined, online tools such as GeneMatcher , GenomeConnect and MyGene2 have been developed that can help connect researchers working on the same gene. In this way, rare disease‐causing variants that previously could not be confirmed can now be identified by matc […]


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

[…] ndings to the human genetics community at large. This experience with gene discovery for a Mendelian condition via social networking prompted design and preliminary development of a web-based portal (MyGene2) that will be accessible via the UW-CMG, through which families can submit phenotypic information and sequence data (e.g., VCF and BAM files) to be warehoused and made accessible to researcher […]


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