Filtered ssG and SNPscanner genotyping results were compared on the basis of call rate, concordance and accuracy.
Unstratified, the BIA derived method yielded the best results of concordance and accuracy with the measured CrCl among all tested models.
Genotyping data on each platform were obtained from the VCF files and PLINK/PED files using a set of in-house scripts; then, the genotype concordance and accuracy were calculated.
When the difference in the quantification cycle (Cq) value of the two counterparts was >1, the sample processing was repeated in another qPCR set until the Cq difference was <1 cycle to ensure concordance and accuracy.
The protocol was subjected to a blind test and showed 100% concordance, proving its accuracy and reliability.
In addition, to improve accuracy, concordance lines with the lemmas "research" and "Chinese/China" being used as parts of proper nouns are also excluded (e.g. CHINESE academy of science, CHINA central television, electronic engineering RESEARCH group, etc).
External validation of this model using 102 validation data sets showed reasonable accuracy (concordance index, 0.719).
Data on patient/informant concordance and informant accuracy are limited for the milder levels of cognitive impairment.
The remaining 1422 SNPs (92.6% conversion rate) were evaluated for accuracy, concordance and call rates in this study.
In doing so, concordance with histopathology (accuracy) and reproducibility in repeated analyses of the same tissue (precision) of the classifiers should be further evaluated.
