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The Way Forward in the UK TrueAllele TrueAllele ® Workshop Workshop April, 2013 April, 2013 Leicestershire, United Kingdom Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics, Pittsburgh, PA Cybergenetics © 2003-2013 Cybergenetics © 2003-2013
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The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Mar 26, 2015

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Page 1: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

The Way Forward in the UK

TrueAlleleTrueAllele®® Workshop WorkshopApril, 2013April, 2013

Leicestershire, United KingdomLeicestershire, United Kingdom

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

Cybergenetics © 2003-2013Cybergenetics © 2003-2013

Page 2: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele mixture validation:Virginia case study

Mark W Perlin, PhD, MD, PhD Mark W Perlin, PhD, MD, PhD Kiersten Dormer, MS and Jennifer Hornyak, MSKiersten Dormer, MS and Jennifer Hornyak, MS

Cybergenetics, Pittsburgh, PACybergenetics, Pittsburgh, PA

Lisa Schiermeier-Wood, MS and Susan Greenspoon, PhDLisa Schiermeier-Wood, MS and Susan Greenspoon, PhDDepartment of Forensic Science, Richmond, VA Department of Forensic Science, Richmond, VA

Establish the reliability of TrueAllele mixture interpretation

Perlin MW et al. Virginia TrueAllele® vaildation study: casework comparison.American Academy of Forensic Sciences 65th Annual Meeting, 2013; Washington, DC.

Page 3: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Case composition

• 72 criminal cases• 92 evidence items • 111 genotype comparisons

Criminal offense• 18 homicide• 12 robbery • 6 sexual assault• 20 weapon

Page 4: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

DNA mixture distribution

Page 5: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Human review informationN

othi

ng r

epor

ted

256.70

2.26 HR1

Page 6: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

2010 guidelines: modified human review information

25

56

2.12 6.70

1.75

2.26

Not

hing

rep

orte

d

HR1HR2

Page 7: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele reinterpretation

Virginia reevaluates DNA evidence in 375 casesJuly 16, 2011

“Mixture cases are their own little nightmare,” says William Vosburgh, director of the D.C. police’s crime

lab. “It gets really tricky in a hurry.”

“If you show 10 colleagues a mixture, you will probably end up with 10 different answers”

Dr. Peter Gill, Human Identification E-Symposium, 2005

Page 8: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele sensitivity

9

25

56

2.12 6.70 10.93

5.52

1.75

2.26

Not

hing

rep

orte

d

HR1HR2

TrueAllele

Page 9: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele specificityTrue exclusions, without false inclusions

– 19.69

Page 10: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele reproducibility

log(LR1)

log(

LR2)

Concordance in two independent computer runs

standard deviation(within-group)

0.305

Page 11: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Validation results

A reliable method • sensitive • specific • reproducible

TrueAllele® Casework DNA mixture interpretation is:

TrueAllele computer genotyping is more effective than human review

Page 12: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele Virginia outcomes144 cases analyzed

72 case reports – 10 trials

City Court Charge Sentence

Richmond Federal Weapon 50 years

Alexandria Federal Bank robbery 90 years

Quantico Military Rape 3 years

Chesapeake State Robbery 26 years

Arlington State Molestation 22 years

Richmond State Homicide 35 years

Fairfax State Abduction 33 years

Norfolk State Homicide 8 years

Charlottesville State Homicide 15 years

Hampton State Home invasion 5 years

Page 13: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele in Virginia

• Department of Forensic Science has their own TrueAllele system• Training, validation, approvals• Services centralized in Richmond• DFS will provide DNA mixture statistics and court testimony

Page 14: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele in New York

Perlin MW, Belrose JL, Duceman BW. New York State TrueAllele® Casework validation study. Journal of Forensic Sciences. 2013;58(6):in press.

Page 15: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele in the United States

Casework systemInterpretation services

Page 16: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele in the United Kingdom2000: FSS & TrueAllele Databank

• first fully automated DNA expert system• for reference samples only• faster: eliminated 350,000 item backlog• better: eliminated human error of 0.05%• cheaper: eliminated 100 jobs

2010: PSNI & TrueAllele Casework

• match stats for complex DNA evidence• 3-4 person DNA mixtures• low-template & degraded DNA

Page 17: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

DNA Pathway RestoredLab InferEvidence

itemEvidence

data

7 10 12 14

+

Known genotype

10, 10 @ 30%10, 12 @ 50%10, 14 @ 20%

10, 12

Compare

Evidence genotype

Page 18: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele Applications

• murder• rape• gangs• terror• IEDs

• cold cases• DVI • property crime• prevention

Page 19: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Real Information, Real Time

Evidence

Genotype database

Crime scene

Infer &Upload

+

Page 20: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Real Information, Real Time

Reference

Genotype database

Criminals

Evidence

Genotype database

Crime scene

Infer &Upload

+

Page 21: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Real Information, Real Time

Evidence

Genotype database

Crime scene

Reference

Genotype database

Criminals

Infer &Upload

Match &Report

+

Page 22: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Continuous Crime Scene Mapping

Food mart • gun • hat

Hardware • safe • phone

Jewelry • counter • safe Convenience

• keys • tape

Market • hat 1 • hat 2 • overalls • shirt

Suspects: S1, S2, S3, S4, S5

Page 23: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

TrueAllele Deployment

• in the cloud (Cybergenetics service)

• in your station or laboratory (Cybergenetics product)

Page 24: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Police Empowerment

• TrueAllele-led DNA investigation• solve challenging DNA evidence• train TrueAllele police personnel

• accurate DNA interpretation • faster turnaround• less human effort• consistent answers

• preserve identification information• DNA evidence within cases• automated investigative database

Page 25: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Getting Startedhttp://www.cybgen.com/support

Page 26: The Way Forward in the UK TrueAllele ® Workshop April, 2013 Leicestershire, United Kingdom Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics.

Moving Forward

[email protected]

• Send one case (no cost)• Discuss match results• Assess TrueAllele value• Identify additional cases• Determine business case• Rent or buy technology• Training and support