The Parabon Snapshot DNA Phenotyping System

Predicting Physical Traits and Making Kinship Inferences from Sample DNA

2013 Parabon NanoLabs, Inc. All rights reserved.

Overview of Parabon Snapshot

! Snapshot predicts forensically relevant traits and

kinship from an unknown DNA sample

New versus Current DNA Analysis

Current DNA Fingerprint DNA Short Tandem Repeats (STRs) New DNA Blueprint Single Nucleotide Polymorphisms (SNPs)

TCAT CGGT AATG AATG TTAG 2 Repeat

TCAT CGGT AATG AATG AATG AATG TTAG 4 Repeat

TCAT CGGT AATG AATG AATG AATG TTAG 3 Repeat

Location:

Junk DNA Regions

Coding DNA Regions

Challenge: Millions of Data Points

Person
Subject #1 Subject #2 Subject #3 Subject #4

S1 1 0 0 1
S1 1 0 0 1 S2 0 0 1 0 S3 0 1 0 0

S2 0 0 1 0
S4 1 0 2 1 S5 0 0 1 1

S3 0 1 0 0
S6 1 1 1 0 S7 1 0 0 2

S4 1 0 2 1
S8 0 1 0 0 S9 1 1 0 1

S5 0 0 1 1
S10 1 0 1 0

S6 1 1 1 0
Trait 0.78 0.24 0.19 0.83

S7 1 0 0 2

S8 0 1 0 0

S9 1 1 0 1
Person
Subject #1 Subject #2 Subject #3 Subject #4

S10 S500K 1 0 1 0
S1 1 0 0 1 S7 1 0 0 2 S9 1 1 0 1

Trait
e.g. Skin Color

1 1 0 2
Person
Subject #1 Subject #2 Subject #3 Subject #4

0.78 0.24 0.19 0.83

S3 0 1 0 0 S4 1 0 2 1 S6 1 1 1 0

Mining

Person
Subject #1 Subject #2 Subject #3 Subject #4

Modeling

S1 1 0 0

S7 1 0 0 S3 0 1 0

S9 1 1 0 S4 1 0 2

S2 0 S6 1 1 0 1 1

S5 1 0 2

S8 S2 0 1 0 1 1 1 S5 1 0 2 S8 1 1 1
COMPUTE PLATFORM

Trait Value (Formula) (2.4)*S2 + (1.7)*S5 + (0.6)*S12

Predictive Analysis
Trait
e.g. Skin Color

???

Using the models developed in the previous step, we can now make predictions from unknown DNA samples
S6 0 S7 1 S8 0 S500K 0

S1 1

S2 1

S3 0

S4 1

S5 2

Trait Value (Formula)

(2.4)*S2 + (1.7)*S5 + (0.6)*S12

Trait 0.89

Trait Skin Color Eye Color Hair Color Height Freckles

Trait Value (Formula) (2.4)*S2 + (1.7)*S5 + (0.6)*S12 (5.3)*S16 + (3.6)*S21 + (7.1)*S35 (7.4)*S12 + (4.3)*S5 + (1.4)*S12 (2.6)*S36 + (3.9)*S5 + (4.8)*S12 (8.1)*S6 + (6.2)*S5 + (12.4)*S12

Subject X 0.89 4.2 3.4 70.0 1.5

Predicting Genetic Ancestry

! Based purely on genetics, populations from the

Human Genetic Diversity Project (HGDP) divide nicely into seven geographic regions ! SNPs can be used to predict genetic ancestry

Li et al. 2008

Traits Snapshot Can Predict

Identity! Sex! Genetic " Ancestry! Face! Face Morphology! Eye Color! Hair Color! Skin Color! Freckling! Hair Morphology! Ability to tan! Dimples! Hair line! Ear shape! Vision correction! Body! Height! Blood Type! BMI! Body Proportions! Waist-to-Hip Ratio! Handedness! Flat feet! Stuttering! Dyslexia! ! and many others!
7

! Current ! Future

Snapshot Use Cases

! Originally targeted for
"# "#

US Special Operations Command (SOCOM) US Army Criminal Investigation Laboratory (USACIL) Battlefield and crime scene investigation Post-mortem identification Identification of relatives Confirmation of claimed relationships Reverse engineering of tribal networks

! Trait Prediction
"# "#

! Kinship
"# "# "#

Case Study: Baton Rouge Serial Killer

! Killed at least 7 people, possibly more (1992-2003) ! Based on one witness account and FBIs typical

profile for serial killers, investigators were looking for a white male who drives a pickup ! A DNA Dragnet was conducted for over a year
! DNA of thousands of white

males was tested (STR) ! No matches were found

Case Study: Baton Rouge Serial Killer

! Drs. Tony Frudakis and Mark Shriver analyzed the

killers DNA for genetic ancestry and determined his ancestry was significantly West African ! Law enforcement redirected its efforts to focus on a person of predominantly West African descent

Case Study: Baton Rouge Serial Killer

! Within 2 months, a DNA sample was obtained from a

person of interest: Derrick Todd Lee ! Lees DNA matched that of the crime scenes and he was later convicted in two of the murders (the rest lacked sufficient evidence)

Snapshot Screenshots