An Expert System for Scoring DNA Database Profiles Dr. Mark W. Perlin Cybergenetics Pittsburgh, PA
Outline • STR Forensic Databases • The Data Scoring Problem • An Expert System Solution • Complex DNA Analysis
Generate STR Profiles STR lengths PCR amplification PCR products size separation electrophoretic bands data acquisition data pixels Data artifacts • PCR stutter • preferential amp • contamination • peak spread • lane crosstalk • size variation • baseline shift • dye bleedthrough • size distortion
Analyze STR Profiles STR lengths designate alleles Human data editing Quality Assurance check allele calls for PCR errors PCR products size & quantitate examine signals for separation errors electrophoretic bands recover DNA signals data pixels inspect data for acquisition errors
High-Quality STR Data Scoring Generate STR Data Forensic DNA Database
Data Analysis: Labor Cost ≥ $1. 00 per experiment
Computer Data Scoring Expert System STR lengths Quality Assurance check allele calls for PCR errors designate alleles PCR products examine signals for separation errors size & quantitate electrophoretic bands recover DNA signals inspect data for acquisition errors data pixels fast, accurate, objective
True. Allele™ Automation Flexible automated analysis: DNA fragment sizing and quantitation Any gel or capillary sequencer data image analysis signal analysis allele assignment quality assessment Automated Analysis: • Macintosh • Windows • UNIX Focused user review of only the 5%-10% suspect data
(1) Input
(2) Run Processing & Q/A
Hitachi Image Data
ABI/3700
Mega. BACE
(3) Allelic Processing & Q/A
Allele. View
(4) Output
Quality Assurance Assemble cross-platform software Assemble PDF hypertext user manuals E-distribution
www. cybgen. com www
Automated Scoring: FSS/UK Generate STR Data True. Allele expert system scores all STR data and assesses data quality Human reviews just 5%-10% of the data UK National DNA Database
NIJ Validation Project Automatically rescore 30, 000 samples Florida database • ABI/310 • ABI/3700 Virginia database • Hitachi/FMbio 2 Compare with CODIS profiles
Complex DNA Analysis Automatically resolve data artifacts • Remove PCR stutter • Adjust relative amplification • Quantitate DNA band overlap • Resolve DNA mixtures Mathematical model
Mixture Deconvolution a+b –a 0. 3 b 0. 7
Automated DNA Profiling STR Data Pathway • Prepare Sample • Amplify DNA • Separate Sizes • Designate Alleles • Match Database
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