Expert Systems for High Throughput Analysis of Single Source Samples: A Comparison of GeneMarker® HID v1.71 and GeneMapper® ID v3.2 and Validation of GeneMapper® ID v3.2




Phillips, Nicole R.


Journal Title

Journal ISSN

Volume Title



The NIJ Convicted Offender DNA Backlog Reduction Program has helped laboratories in the U.S. to enhance throughput of single source sample processing technologies and methods with the adoption of robotics, single amplification kits and multicapillary instruments. With these advances, the bottleneck in forensic laboratories today is data analysis. Commercially available expert systems offer automated sizing and analysis, expediting the process of DNA data analysis. The University of North Texas Center for Human Identification Research & Development Laboratory has been contracted for several population database construction projects, requiring a high throughput approach for genetic processing of the single source samples. Summarized in this report are the comparison of two expert systems and the internal validation of a GeneMapper® ID v3.2 (Applied Biosystems, Foster City, CA) as an expert system. GeneMarker® HID v1.71 (SoftGenetics, State College, PA) and GeneMapper® ID v3.2 are the two expert systems chosen for the initial evaluation. The features, user interface, and performance of each software program were compared. GeneMarker HID and GeneMapper ID performed similarly, making accurate allele calls and appropriately directing the analyst's attention to data that do not meet defined thresholds. The decision was made to internally validate GeneMapper ID as an expert system for STR data analysis of single source samples. The expert system was successfully optimized for the analysis of samples amplified with Identifiler® and Yfiler® PCR Amplification Kits (Applied Biosystems)and analyzed on the 3130xl Genetic Analyzer (Applied Biosystems).