DiscovEHR specifications


Unique identifier OMICS_17668
Name DiscovEHR
Restrictions to use None
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes

Publication for DiscovEHR

DiscovEHR citation


Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

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

[…] found in other databases. The success of efforts, such as Deciphering-Developmental-Disorders-Study (2015), ExAC and its expansion project gnomAD (Genome Aggregation Database) (), Geno2MP (), and the DiscovEHR Collaboration (; ), in creating publically available datasets is a result of these diagnostic needs. Use of integrated match-making programs that comprise the Matchmaker Exchange (MME) () al […]

DiscovEHR institution(s)
Regeneron Genetics Center, Tarrytown, NY, USA; Geisinger Health System, Danville, PA, USA; Laboratory for Molecular Medicine, Cambridge, MA, USA; Regeneron Pharmaceuticals, Tarrytown, NY, USA

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