Investigative DNA Databases that Preserve Identification Information

Slides:

Advertisements

Similar presentations

DNA Identification: Mixture Weight & Inference

Advertisements

Overcoming DNA Stochastic Effects 2010 NEAFS & NEDIAI Meeting November, 2010 Manchester, VT Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Forensic DNA Inference ICFIS 2008 Lausanne, Switzerland Mark W Perlin, PhD, MD, PhD Joseph B Kadane, PhD Robin W Cotton, PhD Cybergenetics ©

DNA Mixture Interpretations and Statistics – To Include or Exclude Cybergenetics © Prescription for Criminal Justice Forensics ABA Criminal Justice.

Combining DNA Evidence for Greater Match Information

Finding Truth in DNA Mixture Evidence Innocence Network Conference April, 2013 Charlotte, NC Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA.

TrueAllele ® Challenges in Court and Culture Cybergenetics © th Annual DNA Technology Educational Seminar Centre of Forensic Sciences and the.

How Inclusion Interpretation of DNA Mixture Evidence Reduces Identification Information American Academy of Forensic Sciences February, 2013 Washington,

Creating informative DNA libraries using computer reinterpretation of existing data Northeastern Association of Forensic Scientists November, 2011 Newport,

How TrueAllele ® Works (Part 3) Kinship, Paternity and Missing Persons Cybergenetics Webinar December, 2014 Mark W Perlin, PhD, MD, PhD Cybergenetics,

Preventing rape in the military through effective DNA computing Forensics Europe Expo Forensics Seminar Theatre April, 2014 London, UK Mark W Perlin, PhD,

TrueAllele ® Interpretation of DNA Mixture Evidence 9 th International Conference on Forensic Inference and Statistics August, 2014 Leiden University,

How TrueAllele® Works (Part 1)

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

Using TrueAllele ® Casework to Separate DNA Mixtures of Relatives California Association of Criminalists October, 2014 San Francisco, CA Jennifer Hornyak,

No DNA Left Behind: When "inconclusive" really means "informative" Schenectady County District Attorney’s Office January, 2014 Mark W Perlin, PhD, MD,

Solving Cold Cases by TrueAllele ® Analysis of DNA Evidence Finding Closure: The Science, Law and Politics of Cold Case Investigations October, 2014 Pittsburgh,

TrueAllele ® Mixture Interpretation Cybergenetics © th Annual DNA Technology Educational Seminar Centre of Forensic Sciences and the Promega.

DNA Mixture Statistics Cybergenetics © Spring Institute Commonwealth's Attorney's Services Council Richmond, Virginia March, 2013 Mark W.

More informative DNA identification: Computer reinterpretation of existing data Ria David, PhD Cybergenetics, Pittsburgh, PA Cybergenetics ©

Scientific Validation of Mixture Interpretation Methods 17th International Symposium on Human Identification Sponsored by the Promega Corporation October,

DNA Identification Science: The Search for Truth Cybergenetics © Summer Research Symposium Duquesne University July, 2010 Mark W Perlin, PhD,

Computer Interpretation of Uncertain DNA Evidence National Institute of Justice Computer v. Human June, 2011 Arlington, VA Mark W Perlin, PhD, MD, PhD.

TrueAllele ® Modeling of DNA Mixture Genotypes California Association of Crime Laboratory Directors October, 2014 San Francisco, CA Mark W Perlin, PhD,

How TrueAllele ® Works (Part 2) Degraded DNA and Allele Dropout Cybergenetics Webinar November, 2014 Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh,

TrueAllele ® Genetic Calculator: Implementation in the NYSP Crime Laboratory NYS DNA Subcommittee May 19, 2010 Barry Duceman, Ph.D New York State Police.

Reanimating Zombie™ DNA Penn State Dickinson Law School September, 2012 State College, Pennsylvania Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh,

Separating Familial Mixtures, One Genotype at a Time Northeastern Association of Forensic Scientists November, 2014 Hershey, PA Ria David, PhD, Martin.

Cybergenetics Webinar January, 2015 Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics © How TrueAllele ® Works (Part 4)

Unleashing Forensic DNA through Computer Intelligence Forensics Europe Expo Forensic Innovation Conference April, 2013 London, UK Mark W Perlin, PhD, MD,

Rapid DNA Response: On the Wings of TrueAllele Mid-Atlantic Association of Forensic Scientists May, 2015 Cambridge, Maryland Martin Bowkley, Matthew Legler,

Getting Past First Bayes with DNA Mixtures American Academy of Forensic Sciences February, 2014 Seattle, WA Mark W Perlin, PhD, MD, PhD Cybergenetics,

Compute first, ask questions later: an efficient TrueAllele ® workflow Midwestern Association of Forensic Scientists October, 2014 St. Paul, MN Martin.

TrueAllele ® interpretation of Allegheny County DNA mixtures Cybergenetics © Continuing Legal Education Allegheny County Courthouse February,

Virginia TrueAllele ® Validation Study: Casework Comparison Presented at AAFS, February, 2013 Published in PLOS ONE, March, 2014 Mark W Perlin, PhD, MD,

TrueAllele ® Computing: All the DNA, all the time Continuing Professional Development Sydney, Australia March, 2014 Mark W Perlin, PhD, MD, PhD Cybergenetics,

When Good DNA Goes Bad International Conference on Forensic Research & Technology October, 2012 Chicago, Illinois Mark W Perlin, PhD, MD, PhD Cybergenetics,

DNA Mapping the Crime Scene: Do Computers Dream of Electric Peaks? 23rd International Symposium on Human Identification October, 2012 Nashville, TN Mark.

Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics © Duquesne University October, 2015 Pittsburgh, PA What’s in a Match?

Open Access DNA Database Duquesne University March, 2013 Pittsburgh, PA Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics ©

Jack Ballantyne and Mark Perlin International Conference on Inference and Statistics, July , Seattle, WA.

Exploring Forensic Scenarios with TrueAllele ® Mixture Automation 59th Annual Meeting American Academy of Forensic Sciences February, 2007 Mark W Perlin,

Objective DNA Mixture Information in the Courtroom: Relevance, Reliability & Acceptance NIST International Symposium on Forensic Science Error Management:

DNA Identification: Quantitative Data Modeling Cybergenetics © Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA TrueAllele ® Lectures.

DNA-led investigation through computer interpretation of evidence Pennsylvania State Police Training Seminar Hershey, PA April, 2014 Mark W Perlin, PhD,

Data summary – “alleles” Threshold Over threshold, peaks are labeled as allele events All-or-none allele peaks, each given equal status Allele Pair 8,

DNA: TrueAllele® Statistical Analysis, Probabilistic Genotyping

A Match Likelihood Ratio for DNA Comparison

Validating TrueAllele® genotyping on ten contributor DNA mixtures

Error in the likelihood ratio: false match probability

Explaining the Likelihood Ratio in DNA Mixture Interpretation

DNA identification pathway

On the threshold of injustice: manipulating DNA evidence

Virginia TrueAllele® Validation Study: Casework Comparison

Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA, USA

Suffolk County TrueAllele® Validation

American Academy of Forensic Sciences Criminalistics Section

Solving Crimes using MCMC to Analyze Previously Unusable DNA Evidence

DNA Identification: Inclusion Genotype and LR

New York State Police TrueAllele® Validation

Forensic Thinking, Fast and Slow

Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA, USA

DNA Identification: Biology and Information

severed carotid artery

DNA identification pathway

Forensic validation, error and reporting: a unified approach

DNA Identification: Biology and Information

DNA Identification: Mixture Interpretation

David W. Bauer1, PhD Nasir Butt2, PhD Jeffrey Oblock2

Presentation transcript:

Investigative DNA Databases that Preserve Identification Information American Academy of Forensic Sciences February, 2012 Atlanta, GA Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics © 2003-2012 Cybergenetics © 2007-2012

DNA Uncertainty Genetic uncertainty Two person in forensic DNA data • DNA mixtures • low DNA amounts • kinship relations • stochastic effects Two person DNA mixture at locus CSF

Probabilistic Genotype Genotype uncertainty expressed through probability Genotype probability distribution over CSF locus allele pairs for minor contributor • Laplace (1812) • Mendel (1865) • SWGDAM (2010) • ANSI/NIST (2011) MW Perlin, MM Legler, CE Spencer, JL Smith, WP Allan, JL Belrose, BW Duceman. Validating TrueAllele® DNA mixture interpretation. Journal of Forensic Sciences, 2011.

Identification Information Likelihood ratio (LR) DNA match statistic Probability(evidence match) Probability(coincidental match) LR = 3 log(LR) = 0.5 reference genotype

Investigative DNA Database probabilistic genotypes reference genotypes 17.5 10 LR match statistic

Investigative Applications Information-preserving DNA database • evidence-to-suspect, solve cold cases • evidence-to-evidence, connect serial crime • evidence-to-kinship, find missing people • kinship-to-reference, conduct familial search • remains-to-missing, identify disaster victims Perlin MW. Identifying human remains using TrueAllele® technology. In: Okoye MI, Wecht CH, editors. Forensic Investigation and Management of Mass Disasters. Lawyers & Judges Publishing; 2007.

Study Data: 40 Mixtures 1, 1/2, 1/4, 1/8 ng 5 weights 4 dilutions 90% 70% 50% 30% 10% 5 weights 1, 1/2, 1/4, 1/8 ng 4 dilutions 2 pairs

Sensitivity Two contributors, victim known Infer one probabilistic genotype sensitivity Measure DNA match information log(LR) 10 20 17.7

Specificity Compare with 1,000 random genotypes -30 -20 -10 10 20 sensitivity -30 -20 -10 10 20 -23.9 17.7

Two Unknown Contributors Without a victim reference Infer two probabilistic genotypes specificity sensitivity -30 -20 -10 10 20 -21.4 14.5

Human Mixture Review all threshold none probabilistic genotype from allele list {10, 11, 12} probability diffusion loses information LR = 1 log(LR) = 0

Allele List Database uploadable allele lists reference allele lists moderate stringency 7 of 13 loci hit

Sensitivity uploadable fraction of allele lists

Specificity spuriously hit fraction of database 150 rfu threshold

Information Comparison Type of DNA database Sensitivity Specificity Probabilistic genotype LR average is about a quadrillion False positive rate < 0.01% Allele list (moderate stringency) Upload fails about 1/3 of the time Hits 5%-25% of the DNA database

The Information Age Saves • work • time • money • evidence • lives Cybergenetics: Meredith Clarke, Matt Legler and Duquesne Univ interns National Institute of Science and Technology: Margaret Kline National Institute of Justice: Award Number 2001-IJ-CX-K003 www.cybgen.com/information perlin@cybgen.com