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Geno2MP specifications

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Unique identifier OMICS_17666
Name Geno2MP
Alternative name Genotype to Mendelian Phenotype
Restrictions to use None
Community driven No
Data access Browse
User data submission Not allowed
Maintained Yes

Geno2MP citations

 (2)
library_books

Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

2017
Genetics
PMCID: 5586389
PMID: 28874452
DOI: 10.1534/genetics.117.203067

[…] riants at the locus 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 […]

library_books

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

2015
PMCID: 4902791
PMID: 26656649
DOI: 10.1038/gim.2015.161

[…] s a straightforward approach to establishing a 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 a […]


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