DiscovEHR specifications

Information


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

library_books

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

2017
Genetics
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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