dna identification science: the search for truth cybergenetics © 2003-2010 summer research...
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DNA Identification Science:The Search for Truth
Cybergenetics © 2003-2010Cybergenetics © 2003-2010
Summer Research SymposiumSummer Research SymposiumDuquesne UniversityDuquesne University
July, 2010July, 2010
Mark W Perlin, PhD, MD, PhDMark W Perlin, PhD, MD, PhDCybergenetics, Pittsburgh, PACybergenetics, Pittsburgh, PA
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DNAcellcell
nucleusnucleus
chromosomeschromosomes
locus
Short Tandem Repeat (STR)
genotype7, 8
alleles
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IdentificationBiological evidence
Questioned data
Questioned genotype Q
Suspect genotype S
10 12
10, 12
10, 12
Lab Infer
Compare
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UncertaintyBiological evidence
Questioned data
Questioned genotype Q
Suspect genotype S
10 11 12
10, 12 @ 50%11, 12 @ 30%12, 12 @ 20%
10, 12
Lab Infer
+
Compare
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Science
Prof Jevons, 1874
1. Propose hypothesis2. Examine consequences3. Compare with data
Scientific method
Agree: hypothesis likelySort of agree: sort of likely Disagree: unlikely
Prof Feynman, 1965
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Search for Truth
Bayes Theorem
Our belief in a hypothesisafter we have seen datais proportional to how well that hypothesis explains the datatimes our initial belief.
All hypotheses must be considered. Need computers to do this properly.
Find the probability of causes by examining effects.
Rev Bayes, 1765
Computers, 1985
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Information Gain (LR)identification hypothesis:
the suspect contributed to the evidence
information gain(likelihood ratio)
Odds(hypothesis | data)
Odds(hypothesis)before
after
= data
Additive information units: log(LR)Order of magnitude, powers of ten
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DNA Mixture Data
Some amount of contributor A
genotype
Other amount of contributor B
genotype
Mixture data withgenotypes of
contributors A & B
+ PCR
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Quantitative Mixture InterpretationStep 1: infer genotype
• consider every possible allele pair• compare pattern with DNA data• Rule: better fit's more likely it
high likelihood
low likelihood
?
?
genotype
a,ba,cb,dc,d…
allele pair probability
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Information Gain (LR)Step 2: match genotypes
At the suspect's genotype allele pair,what is the locus information gain?
information gain(likelihood ratio)
Prob(allele pair | data)
Prob(allele pair)before
after
= data
Computer objectivity: (Step 1) infer evidence genotype from data
(Step 2) compare genotype with suspect
(population)
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0
5
10
15
20
25
2A 2C 2H 2D 2B 2F 2G 2E
LR2
Efficacy (2 unknown)
13.2613.26
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Qualitative Manual ReviewStep 1: infer genotype
Rule: every pair gets equal share
listed allele pairsare all assigned
the same likelihood
?
?
genotype
a,aa,ba,ca,d…
allele pair likelihood
Step 2: match genotype
lower probability means lower information gain (LR)
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0
5
10
15
20
25
2A 2C 2H 2D 2B 2F 2G 2E
LR2
CPI
Improvement
7.037.03
6.246.2413.2613.26
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0
5
10
15
20
25
2A 2C 2H 2D 2B 2F 2G 2E
Rep 1
Rep 2
Reproducibility
0.1750.175
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Efficacy (1 unknown)
17.3317.33
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Improvement
17.3317.33
12.6612.66 4.674.67
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Reproducibility
0.0360.036
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Validation Summarytwo unknown
(without victim)one unknown(with victim)
quantitativecomputer
qualitativehuman
improvement
13.2613.26 (0.175)(0.175)(ten trillion)(ten trillion)
7.037.03(ten million)(ten million)
6.246.24(one million)(one million)
17.3317.33 (0.036)(0.036)(hundred quadrillion)(hundred quadrillion)
12.6612.66(five trillion)(five trillion)
4.674.67(fifty thousand)(fifty thousand)
interpretationmethod
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Commonwealth vs. Foley
Apr 2006: Blairsville Dentist John Yelenic murdered
Nov 2007: Trooper Kevin Foley charged with crime
Feb 2008: Defense questions 13,000 DNA match score
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DNA Evidence
• DNA from under victim's fingernails (Q83)• two contributors to DNA mixture• 93.3% victim & 6.7% unknown• 1,000 pg DNA in 25 ul• STR analysis with ProfilerPlus®, Cofiler® • know victim contributor genotype (K53) • TrueAllele® computer interpretation (using genotype addition method) infer unknown contributor genotype • only after having inferred unknown, compare with suspect genotype (K2)
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Three DNA Match Statistics
Score Method13 thousand inclusion
23 million subtraction189 billion addition
• Why are there different match results?• How do mixture interpretation methods differ?• What should we present in court?
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Different Interpretation Methods
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Frye: General Acceptance in the Relevant Community
• Quantitative STR Peak Information• Genotype Probability Distributions• Computer Interpretation of STR Data• Statistical Modeling and Computation• Likelihood Ratio Literature• Mixture Interpretation Admissibility• Computer Systems for Quantitative DNA Mixture Deconvolution• TrueAllele Casework Publications
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Expected Result
15 loci
12 loci
67
Perlin MW, Sinelnikov A. An information gap in DNA evidence
interpretation. PLoS ONE. 2009;4(12):e8327.
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Expert Testimony
Dr. Perlin explained to the jury why these apparently different results were expected by DNA science. "The less informative methods ignored some of the data," said Dr. Perlin, "while the TrueAllele computation considered all of the available DNA data."
"A scientist may look at the same slide using the naked eye, a magnifying glass, or a microscope," analogized Dr. Perlin. "A computer that considers all the data is a more powerful DNA microscope."
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Inferred Genotype
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log(LR) Match Information
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Locus D8S1179 Data
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Explain D8S1179 Genotype
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Likelihood Comparison
better fit's more likely itbetter fit's more likely it
every pair gets equal shareevery pair gets equal share
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Generate Report
Locus information gain is genotypeprobability ratio:LR = after/before
Joint informationis the sum of thelocus information
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More Data In, More Information Out
13 thousand (4)13 thousand (4)23 million (7)23 million (7)
189 billion (11)189 billion (11)
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Case Observations
• objective review never saw suspect• easy to testify about in court• understandable to judge and jury• have precedent: admitted, testified• preserve match information in data• rapid response to attorney• multiple match scores presented all information to the triers of fact – nothing was withheld from the jury this should be standard practice
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One Verdict
"John Yelenic provided the most eloquent and poignant evidence in this case," said the prosecutor, senior deputy attorney general Anthony Krastek. "He managed to reach out and scratch his assailant," capturing the murderer's DNA under his fingernails.
The DNA Investigator Newsletter. Same Data, More Information - Murder, Match and DNA, Cybergenetics, 2009.
www.cybgen.com/information/newsletters/CybgenNews1.pdf
One Verdict
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Public Safety
• DNA databases of criminal offenders• police investigation: DNA database hits• prevent crime by catching criminals• could prevent 100,000 stranger rapes• ensure conviction of the guilty• avoid implicating the innocent
DNA public policy assumes that crime labspreserve DNA identification information
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Information Loss
Discarding DNA identification informatoninstead of preserving it with science
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No Information Incentive
Crime lab evaluation• NIJ funding based on other metrics• ASCLD/ISO accreditation standards• FBI/SWGDAM method guidelines
Actual metrics and incentives• eliminating backlogs• passing audits• testifying comfort
DNA identification information is not assessed
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No Information ConsistencyNational Institute of Standards and TechnologyTwo Contributor Mixture Data, Known Victim
31 thousand (4)
213 trillion (14)
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Failure to Identify
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Scientist Task
• practice identification science, not forensic art
• teach public about scientific methods
• learn more mathematics (probability theory)
• research accurate and objective methodology
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Acknowledgements
New York State PoliceBarry DucemanMelissa LeeShannon MorrisElizabeth StaudeCybergenetics
William AllanMeredith ClarkeMatthew LeglerJessica SmithCara Spencer
Northeast RegionalForensics InstituteJamie Belrose
Boston UniversityRobin Cotton
Carnegie MellonJay Kadane