TrueAllele ® Casework Validation on PowerPlex ® 21 Mixture Data Australian and New Zealand Forensic Science Society September, 2014 Adelaide, South Australia.

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Presentation transcript:

TrueAllele ® Casework Validation on PowerPlex ® 21 Mixture Data Australian and New Zealand Forensic Science Society September, 2014 Adelaide, South Australia Jennifer Hornyak, MS, William P. Allan, MS, and Mark W. Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA, USA Cybergenetics ©

TrueAllele ® Casework ViewStation User Client Database Server Interpret/Match Expansion Visual User Interface VUIer™ Software Parallel Processing Computers

Peer-reviewed validation studies Perlin MW, Sinelnikov A. An information gap in DNA evidence interpretation. PLoS ONE. 2009;4(12):e8327. Ballantyne J, Hanson EK, Perlin MW. DNA mixture genotyping by probabilistic computer interpretation of binomially-sampled laser captured cell populations: Combining quantitative data for greater identification information. Science & Justice. 2013;53(2): Perlin MW, Hornyak J, Sugimoto G, Miller K. TrueAllele ® genotype identification on DNA mixtures containing up to five unknown contributors. Journal of Forensic Sciences. 2015;in press. Greenspoon SA, Schiermeier-Wood L, Jenkins BC. Establishing the limits of TrueAllele ® Casework: a validation study. Journal of Forensic Sciences. 2015;in press. Perlin MW, Legler MM, Spencer CE, Smith JL, Allan WP, Belrose JL, Duceman BW. Validating TrueAllele ® DNA mixture interpretation. Journal of Forensic Sciences. 2011;56(6): Perlin MW, Belrose JL, Duceman BW. New York State TrueAllele ® Casework validation study. Journal of Forensic Sciences. 2013;58(6): Perlin MW, Dormer K, Hornyak J, Schiermeier-Wood L, Greenspoon S. TrueAllele ® Casework on Virginia DNA mixture evidence: computer and manual interpretation in 72 reported criminal cases. PLOS ONE. 2014;(9)3:e92837.

DNA mixture data peak size peak height Quantitative peak heights at a locus

Separate mixture data into three contributor components Mixture weight 70%27%3%

Genotype inference Thorough: consider every possible genotype solution Objective: does not know the comparison genotype Explain the peak pattern Better explanation has a higher likelihood One person’s allele pair Another person's allele pair A third person’s allele pair

Study design Measure in log(LR) sensitivity specificity reproducibility log(LR) = 61 followed by 6 zeros1 million

STR data PowerPlex ® 21 kit 20 STR loci + sex-typing marker more discriminating power than 16 locus kits Mixtures of Known Composition 2, 3, and 4 contributors in known ratios developed by NSW Forensic and Analytical Science Service ABI 3500xl genetic analyzer

TrueAllele operator 2, 3, or 4 unknown mixture contributors 100K/100K MCMC sampling Replicate computer runs for each item STR evidence data.hid genetic analyzer files Evidence genotypes probability distributions Match statistic information measured as log(LR)

Sensitivity The extent to which an interpretation method correctly includes a true contributor 168 genotype match statistics from 62 mixture items Plotting the frequencies produces a log(LR) match distribution…

Sensitivity ncon ncon 3 ncon 4

False exclusions ncon log(LR) Total0510 N = False negative tail distribution

Specificity The extent to which an interpretation method correctly excludes a non-contributor 168 genotypes x 10,000 random references x 2 ethnic populations Plotting the frequencies produces a log(LR) mismatch distribution…

Specificity ncon 2 ncon 3 ncon 4

False inclusions False positive tail distribution ncon log(LR) Total431, N=1,120,0001,440,000800,000

Reproducibility σ w = σ w = σ w = ncon 2 ncon 3 ncon 4

Study conclusions TrueAllele Casework computer DNA mixture interpretation on PowerPlex ® 21 mixture data with 2, 3, and 4 contributors is: objective sensitive specific reproducible

Criminal Cases Mixtures of family members child rape homicide 3 person mixture 5 person mixture Over 200 case reports Many states & countries On-line in crime labs California Virginia Middle East

Invented math & algorithms20 years Developed computer systems15 years Support users and workflow10 laboratories Used routinely in casework3 labs Validate system reliability20 studies Educate the community50 talks Train & certify analysts200 students Go to court for admissibility5 hearings Testify about LR results20 trials Educate lawyers and laymen1,000 people Make the ideas understandable200 reports TrueAllele today

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