The QC results showed good performance with discordance rates decreasing over time: 3%, in 2003, 2.6% in 2004, 2% in 2005, 1% in 2007, and 0.8% in 2008.
When genotypes are also measured, FFPE samples have substantially lower call rates (suggesting a loss of performance) and genotype discordances between FFPE and fresh frozen samples raise troubling questions about data reliability [ 5- 10].
First, the high sensitivity of BSI, with all Galectin-7 samples being within the LOQ, provides reasonable confidence that poor assay performance is not the discordance of the tissue serum results.
We tested and rejected the possibilities that the preponderance of changes to alanine and the presence of multiple base-pair mutations in the laboratory were the reasons for the observed discordance between the performance of computational tools for natural and laboratory mutations.
In order to examine how Only-dup, Dup-loss, and SPRS methods perform when gene tree simulations only include events that these methods assume to be the source of discordance, we studied the performance of Only-dup and Dup-loss on evolutionary scenario dl and SPRS on lgt.
Although these gene panels have similar outcomes performance, they exhibit a large degree of discordance in the assignment of a particular breast tumor to a specific prognostic group [ 11].
However, the determination of ER positivity might also play a role in the assessment of the performance of the PCR-GGI since we report here a discordance of 25% between IHC and RT-PCR assessment of ER.
Second, we evaluate how the reference panel sizes affect the performance of the most diverse reference panel by comparing the genotype discordance rates for reference panels of size 100, 200, 300, 400, and 500 haplotypes.
Of the discordant assays: 1 assay exhibited a single discordance; 2 assays exhibited two discordances and 2 assays exhibited four discordances.
Comparing direct and indirect assessments of functionality in a mixed cohort of dementia patients, only one of which had FTLD, Bressan et al. [ 18] noted discordance between the opinion of caregivers/family members and actual observed performance of the patient, whereby informants often underestimated patients' potential to perform ADLs.
