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The pool of diseases used to define the outcome also has the effect of increasing the baseline exposure of the population to pathogens due to higher prevalence compared to the analysis at individual disease level.
In North Africa and the Middle East, trade in live animals, meat, and meat products poses noticeable risk to human and animal health (2, 3 ) and can serve as a mobile pool of diseases with potentially large economic and health effects.
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The analysis of maleic acid and sibutramine demonstrated the capability of ChemDIS for identifying a small number of potential affected diseases from the large pool of disease terms.
Generally, ChemDIS identified 103 DO terms and 7 DOLite terms from a large pool of disease terms that largely help the prioritization of potentially associated diseases.
One process in which this problem has become particularly important is that of gene prioritization, or the identification of potential marker genes for a specific disease from a pool of disease-related genes.
With the continuous decrease in sequencing cost, new studies making use of WGS to investigate causative variants will lead to the discovery of additional mutations in regulatory elements that contribute to the pool of disease-associated variants.
To identify novel drugs, we compared our phenotype of interest (from the pool of seven diseases considered in our study) with indications associated with the drug.
Infants with macrosomia could generate another pool of cardiovascular disease patients which add the already heavy disease burden.
There is a growing pool of available disease-related data, increasing interest from end users and pressure from funding agencies to make clear connections between the data from model organisms and the human diseases they reference.
Of course, if ascertainment is increased when the pool of clinical disease itself is not, the observed increase in incidence would most likely occur through an increase in the diagnosis of milder or earlier cases.
The pool of non-disease genes for the "monogenic disorders", "full OMIM" and "cancer mutated" sets is obtained by subtracting from the annotated genes in the human network all genes with a reported mutation in any of the three disease sets.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com