GNOMAD

AcronymDefinition
GNOMADGlobal Network on the Move Active Distribution (ITT Exelis)
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References in periodicals archive ?
Similar to the variant found in the first patient, this mutation was not previously described in the UMD-FBN1 database and was not present in the gnomAD healthy control database, but it is predicted as pathogenic by UMD-predictor, CADD and MutationTaster2 [12-14].
This variant is common in the general population and has been observed in the homozygous state more than 4,000 times in the gnomAD database, suggesting it is unlikely to contribute to pediatric disease.
It has a minor allele frequency of 0.00009 in gnomAD and was not seen in 200 Chinese Han normal hearing controls.
Here, we have adopted p = 0.1% MAF as threshold for defining common variants in the gnomAD database.
According to Exelis, its system, called Global Network on the Move-Active Distribution (GNOMAD), provides a broadband, satellite communication (SATCOM) on-the-move (SOTM) networked command and control connectivity.
GNOMAD: Garden gnomes at the Gnome Reserve in Devon
A successful example of this risk reduction process was the NIE 12.1 integration of ITT's GNOMAD mobile command post system.
The candidate variants were first filtered by the following parameters: (1) minor allele frequency (MAF) under 1% in genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/); (2) the benign variants, including synonymous and harmless missenses predicted by Ingenuity and those predicted to have no impact on splicing by MaxEntScan.
The novel mutations were searched in the Single Nucleotide Polymorphism database (dbSNP, https://www.ncbi.nlm.nih.gov/projects/SNP/, National Institutes of Health, USA), the 1000 Genomes database (http://www.internationalgenome.org, the International Genome Sample Resource), Exome Sequencing Project (ESP6500, http://evs.gs.washington.edu/EVS/, National Heart, Lung and Blood Institute, USA), Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org/, Broad Institute, USA), the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/, international coalition of investigators), and the clinVar database (https://www.ncbi.nlm.nih.gov/clinvar/, National Institutes of Health, USA) and the in-house database for normal healthy controls.
This loss-of-function mutation appears to be novel as not present in ethnically diverse population databases (dbSNP, gnomAD, or ClinVar) nor in a locally maintained database of 100 ethnically matched individuals.
Ku-band and X-band SATCOM can be carried by Exelis' (now Harris) GNOMAD terminals across the WGS.