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In addition, seven experiments were conducted to evaluate the Early Access STR Kit v1 such as studies of repeatability, concordance, sensitivity, mixtures, degraded samples, case-type samples and pedigrees.
Besides, several experiments were carried out to find out improvements and limitations of this panel, including studies of species specificity, repeatability and concordance, sensitivity, mixtures, case-type samples and degraded samples, population genetics and pedigrees following the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines.
Concordance, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) were calculated.
As a consequence of the moderate concordance, sensitivity and specificity for IHC in our study were lower than described by others [ 41, 42].
The overall unadjusted concordance, sensitivity, specificity, PPV, and NPV were 86.7%, 85.2%, 88.2%, 86.9%, and 86.7%, respectively, for detecting MTBC in primary samples and 98.9%, 98.7%, 100%, 100%, and 93.3%, respectively, for isolates.
If PCR-equivocal results are considered PCR negative, the adjusted values for detecting MTBC in primary specimens were only marginally altered to 90.6%, 84.0%, 96.2%, 95.7%, and 85.7%, respectively, for concordance, sensitivity, specificity, PPV, and NPV.
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In this study, a series of experiments that evaluated concordance, reliability, sensitivity of detection, mixture analysis, and the ability to analyze case-type and challenged samples were conducted.
Therefore, despite high WES mean coverage and elevated rates of both concordance and sensitivity in mutation detection, it is also necessary to assess and to verify the homogeneity of the target capture, specially in the genes of interest that have to be screened for molecular diagnosis (Table 2).
Concordance rates, sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and diagnostic accuracy were then determined.
The predictive capabilities of each experimental technique were described by concordance percentage, sensitivity, specificity, and positive and negative predictive values, considering FISH as the reference technique.
Downsampling and subsetting of reads to achieve lower coverage in WGA callsets (or match the starting number reads in the genomic sequencing experiment) consistently resulted in lower genotype concordance and sensitivity metrics for the whole exome capture experiment, in contrast to the chr12 capture experiment.
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Since I tried Ludwig back in 2017, I have been constantly using it in both editing and translation. Ever since, I suggest it to my translators at ProSciEditing.

Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com