Bi-allelic


An allele which exists in two variant forms - a major and minor allele. Individuals may be homozygous for either variant or heterozygous.




Calibrator


A sample used as the basis for comparative results.

Chimerism


A biological state where two or more genetically distinct cell populations exist within a single individual.




Comparative CT (ΔΔCT) method


Method for determining relative target quantity in samples. The relative quantity of target in each sample is determined by comparing the Cq in each sample to the Cq in the reference sample.




Cq


Quantification Cycle; The fractional PCR cycle used for quantification; also referred to as the threshold cycle (CT), or crossing point (Cp) and take-off point (TOP).




Experiment


A collection of genotyping and monitoring reactions that are carried out simultaneously (i.e, on a single plate or in a single set tubes for RGQ cyclers).




INDEL


Abbreviation for insertion/deletion polymorphism; a class of DNA mutation characterized by the loss or gain of genetic material at a specific locus.




Informative marker


An assay/marker capable of distinguishing between genetic material from two or more sources; An informative marker is an assay for a marker allele that is present (positive) in one individual genome and absent (negative) in the other genome(s).




Monitoring marker


An assay/marker designed for use in quantitation of a specific marker, allele, or analyte. The assay must demonstrate high specificity for accurate quantitation and high sensitivity to achieve a desirable limit of detection.




Reference assay


An assay/marker designed specifically to detect the total amount of DNA in a reaction; used in quantification to normalize the amount of input DNA between reactions; also referred to as an endogenous control assay.




Reference Sample


A control sample possessing the target DNA (typically 100% target DNA) to be quantified in the experimental sample by relative quantitation; also referred to as a calibrator.




Recipient Sample


A control sample possessing the target DNA (typically 100% target DNA) to be quantified in the experimental sample by relative quantification; also referred to as a calibrator.




Relative Quantification


A method of quantification where quantity of an unknown sample is derived by comparison to a reference sample.




Sample


A sample is a unique donor or recipient.




Passive reference


A dye that produces fluorescence signal. Because the passive reference signal should be consistent across all wells, it is used to normalize the reporter dye signal to account for non-PCR related fluorescence fluctuations caused by minor well-to-well differences in concentrations or volume. Normalization to the passive reference signal allows for high data precision.




Normalized reporter (Rn)


Fluorescence signal from the reporter dye normalized to the fluorescence signal of the passive reference.




Baseline-corrected normalized reporter (ΔRn)

The magnitude of normalized fluorescence signal generated by the reporter.  In experiments that contain data from qPCR, the magnitude of normalized fluorescence signal generated by the reporter at each cycle the PCR amplification.  ΔRn (cycle) = Rn (cycle) − Rn (baseline), where Rn = normalized reporter.