Abstract
The New York State Convicted Offender DNA Databank is the first U.S. lab to complete an internal validation of the True Allele® expert data review system. TrueAllele® is designed to assess short tandem repeat (STR) DNA data based on several key features such as peak height, shape, area, and position relative to a standard ladder and use this information to make accurate allele calls. The software then prioritizes the allele calls based on several user-defined rules. As a result, the user need only review low-quality data. The validation of this system consisted of an extensive optimization phase and a large concordance phase. During optimization, the rule settings were tailored to minimize the amount of high-quality data viewed by the user. In the concordance phase, a large dataset was typed in parallel with the ABI software Gene Scan® and Genotyper® (manual review) and TrueAllele® (automated review) for comparison of allele calls and sample state assignment. Only one significant difference was discovered out of 2048 samples in the concordance study. In this case, TrueAllele® revealed a spike in the profile that was interpreted as a DNA peak by the analyst in Genotyper®. TrueAllele® was designed to focus the review on poor data and to eliminate the need for complete reanalysis technical review. This validation project proved TrueAllele® to be dependable for use at the NYS Convicted Offender DNA Databank.
