However, the most frequent pathway that leads to the mucoid phenotype is the acquisition of loss-of-function mutations in a single gene, mucA, which encodes for a negative regulator of alginate production [18].
Table 7 and Table 8 further show the top 25 most frequent pathway mentions detected in the AD corpora.
We also demonstrated that PathNER could provide a curation support by providing reliable curation suggestions from most frequent pathway mentions in the primary literature associated to a particular disease.
In addition, phenylalanine, tyrosine and tryptophan biosynthesis, purine metabolism and the pentose phosphate pathway are the most frequent significant pathways associated with all measured traits in the KEGG biological pathway analysis.
The most frequent significant pathways, considering all traits except PC, included purine metabolism, glycosaminoglycan biosynthesis heparan sulfate/heparin, the pentose phosphate pathway, and peroxisome and vascular smooth muscle contraction (Fig. 6) and (See Additional file 11: Figure S4).
The three most frequent significant pathways, considering all measured traits, including PC, were phenylalanine, tyrosine and tryptophan biosynthesis, endocytosis and purine metabolism (See Additional file 11: Figure S4).
Description: Distribution of the most frequent biological pathways being significantly enriched with genes in genomic regions associated with measured traits during the large-scale challenge study.
Examining the mutations that gave rise to a particular phenotype in the bacterium, Pseudomonas fluorescens, revealed a hierarchy of pathways: loss of function mutations are most frequent and other pathways, including promoter mutations, gene fusions, and gain of function mutations can only be found when the dominant pathway is blocked (Lind, Farr and Rainey, 2015).
Examining the mutations that gave rise to a particular phenotype in the bacterium, Pseudomonas fluorescens, revealed a hierarchy of pathways: loss-of-function mutations are most frequent and other pathways, including promoter mutations, gene fusions, and gain-of-function mutations can only be found when the dominant pathway is blocked (Lind et al., 2015).
10.1186/s12711-015-0170-0 thele: Distribution of the most frequent significant biological pathways.
