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Furthermore, this telephone questionnaire has been meticulously validated two times taking the expert diagnosis as the gold standard, which increased the reliability of our results.
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Overall, we detected and validated seven times more large insertions/deletions than previously found in the 1000 Genome Consortium pilot and phase 1 data (1000 Genomes Project Consortium et al. 2010, 2012).
To understand their prevalence, evolution, and function, we predicted over 400 genes that encode putative miPs from Arabidopsis (Arabidopsis thaliana) using a bioinformatics pipeline and validated two novel miPs involved in flowering time and response to abiotic and biotic stress.
Among the seven up-regulated genes identified to be linked to TNF, real-time RT-PCR validated three genes that were changed > 2-fold across at all four time points, three across three time points, and one at two time points.
We validated one of these genes, PCDHB8 using real-time PCR (Figure 3) and quantitative DNA methylation analysis (Figure 4).
We validated four genes by qPCR.
The three instruments were externally validated one to two times per year against recently drawn patient blood as controls with mean 6.7 mmol/l (maximum 1 s.d.=0.11 mmol/l) and three controls with mean 3.0, 7.0 and 11.0 mmol/l (maximum 1 s.d.=0.20 mmol/l for all).
The two RNA samples for RNA-Seq were also used to validate ten randomly selected DEGs by real-time quantitative PCR with RPL19 as the reference gene.
The quantitative real-time PCR (qPCR) method was used to validate ten CNVRs identified by both PennCNV and CNVPartition.
This validates one aspect of the relationship.
Both NB and SVM models were validated using external 5-fold cross validation, repeated three times on randomized data set.
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