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The positive fusion cells were selected to generate a monoclonal antibody against Sjda.
Since all the considered tools implement a set of filters to reduce the number of false positive fusion events, a brief description of these filters is reported.
T2E status was not directly measured in TCGA, but previous studies have shown that ERG mRNA overexpression is an accurate predictor of positive fusion status [ 26– 28].
A list of the true positive fusion genes, probable true positives and results from JAFFA, SOAPfuse, defuse and TopHat-Fusion for the gliomas dataset.
Because T2E-fusion status was not directly determined in TCGA using fluorescence in situ hybridization (FISH), we used ERG mRNA overexpression as a proxy for positive fusion status, as described previously [ 26– 28].
On the other hand, large cohort studies of patients managed with watchful waiting did show correlations with a positive fusion status being associated with reduced survival (Attard et al, 2007; Demichelis et al, 2007).
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In this analysis of sensitivity, we considered three parameters: (i) the total number of true positive fusions detected by the different tools (called all), (ii) the number of true positive fusions detected by the correct orientation of the two genes (called right), and (iii) the number of true positive fusions detected by erroneous orientation of the two genes (called wrong).
However, real datasets have the limitation that the exact number of true positive fusions is not known; thus, false positive detection cannot be assessed.
Detection tools differ in the type and number of cascading filters they apply to reduce the large number of false positive fusions.
Being ChimeraScan the most efficient tool in detection of fusion events in the right orientation, we evaluated various filtering approaches to reduce the false positive fusions contaminating the real fusion events.
It was observed that the main characteristics of false positive fusions in the negative_set are both the lack of fusion junction-spanning reads and the inclusion of intronic regions in the fusion.
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