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MedGen specifications


Unique identifier OMICS_01549
Name MedGen
Restrictions to use None
Community driven No
Data access File download, Browse
User data submission Not allowed
Maintained Yes


  • Primates
    • Homo sapiens


  • person_outline Eric W Sayers

Publication for MedGen

MedGen citations


Diet Affects Muscle Quality and Growth Traits of Grass Carp (Ctenopharyngodon idellus): A Comparison Between Grass and Artificial Feed

Front Physiol
PMCID: 5879129
PMID: 29632496
DOI: 10.3389/fphys.2018.00283
call_split See protocol

[…] d reference genes was evaluated according to standard curves. Each experiment was conducted in triplicate. The relative stability measures (M) of the reference genes were calculated by GeNorm ( Based on the results, β-actin was chosen as the reference gene in subsequent analyses. […]


Lactobacillus plantarum Restores Intestinal Permeability Disrupted by Salmonella Infection in Newly hatched Chicks

Sci Rep
PMCID: 5797085
PMID: 29396554
DOI: 10.1038/s41598-018-20752-z
call_split See protocol

[…] structions. Each sample was analyzed in triplicate. Five housekeeping genes were tested after which the most stable housekeeping gene for cecal samples was selected, using the geNorm software ( GAPDH was finally chosen to normalize gene expression due to its high expression stability. The efficiency of all tested genes was between 90% and 110%. Target gene […]


Association of innate defense proteins BPIFA1 and BPIFB1 with disease severity in COPD

PMCID: 5741069
PMID: 29296079
DOI: 10.2147/COPD.S144136
call_split See protocol

[…] . Data were analyzed using the standard curve method, and the expressions of BPIFA1 and BPIFB1 were calculated relative to the expression of the three reference genes, using the geNorm applet ( […]


Juvenile Onset Diabetes and Congenital Cataract: “Double Gene” Mutations Mimicking a Syndromic Diabetes Presentation

PMCID: 5704222
PMID: 29112131
DOI: 10.3390/genes8110309
call_split See protocol

[…] ollected from public databases by the in-house analysis pipeline was then considered for further selection of variants and genes of interest, including annotations extracted from NCBI (ClinVar, Omim, MedGen, dbSNP clinical significance and PubMed search using patient-specific keywords). Allele frequencies of selected variants were then further investigated in additional databases: the Genome Aggre […]


Genomic analysis of an infant with intractable diarrhea and dilated cardiomyopathy

PMCID: 5701300
PMID: 28701297
DOI: 10.1101/mcs.a002055

[…] were annotated with parent of origin, computed using the genomes of the parents.Gene-based annotations include (1) diseases associated with the gene and reported inheritance patterns, retrieved from MedGen, May 2016 version ( and the ClinVar 2017-05 xml file (); (2) tissues in which the gene is expressed, retrieved from Expression Atlas (); and (3) frequency o […]


Selection of reference genes for quantitative real time RT PCR assays in different morphological forms of dimorphic zygomycetous fungus Benjaminiella poitrasii

PLoS One
PMCID: 5466344
PMID: 28598997
DOI: 10.1371/journal.pone.0179454
call_split See protocol

[…] The results obtained in the form of Ct values from RT-qPCR experiments were analyzed using the geNorm program ( and the gene expression stability (M) value was calculated []. The optimum number of reference genes required for reliable normalization was obtained by pair-wise var […]


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