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MaxLgi and AvgLgi provide evidence of the specificity of the most specific functional feature shared between a gene with a transferred annotation to a pathway and at least one (MaxLgi), or all on average (AvgLgi), of the genes known to be involved in that pathway.
Methylmalonic acid (MMA) is the most specific functional biomarker of B-12 status.
Moreover, we use the most specific functional terms, i.e. the leaf node terms, to minimize the inter-correlations between terms.
From the list retrieved for the gene of interest in step 1, we culled the SNVs that occur in genes annotated to the most specific functional term (that is, the term containing the fewest genes).
In particular, FunPat exploits, when available, the hierarchical structure of the annotations starting the search of the temporal patterns from the most specific functional terms and removing the selected genes from the ancestors, as originally proposed by Alexa et al. [ 21] in the context of functional enrichment.
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In hydrocephalus, the most important specific functional concerns are: · Impaired mobility and ambulation (e.g., cerebral palsy) · Impaired cognition (mental delay, behavior) [ 31- 33] · Sensory deficits (vision, hearing) [ 34- 36] · Endocrine dysfunction (growth, puberty, weight balance, fertility) [ 4, 37, 38] · Epilepsy [ 8, 39] · Depression [ 37] · Pain (chronic headache) [ 40].
3– 20 Given the range of physiologic abnormalities among treated patients, ranging from pure RVOT obstruction to pure PR, with mixed obstruction and PR the most common, the specific functional and physiologic outcomes of TPV replacement have been found to vary.
Using the taxonomy similarity of protein functional classes, the proposed approach can call on the interacting neighbor proteins annotated to nearby classes to support the predictions for an uncharacterized protein, and automatically select the most appropriate small-sized specific functional classes in Gene Ontology (GO) during the learning process.
In an evaluation of the CSIDOP method we use protein-protein interaction data from the Homo sapiens genome, and find that CSIDOP is capable of making molecular function predictions for human proteins with accuracy of 95.42% using 2,972 gene ontology (GO) functional categories (the most specific terms in GO).
However, the specific functional roles of most miRNAs and their combinatorial effects in cellular processes are still unclear.
CHAT is presently the most specific indicator available to monitor the functional state of cholinergic neurons in the central and peripheral nervous systems [ 40].
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