2013 Parabon NanoLabs, Inc. All rights reserved.

The Parabon Snapshot DNA Phenotyping System

Predicting Physical Traits and Making Kinship Inferences from Sample DNA

Overview of Parabon Snapshot ! Snapshot predicts forensically relevant traits and

kinship from an unknown DNA sample

New versus Current DNA Analysis

2 Repeat

TCAT CGGT AATG AATG TTAG

TCAT CGGT AATG AATG AATG AATG TTAG

TCAT CGGT AATG AATG AATG AATG TTAG

4 Repeat

3 Repeat

DNA Short Tandem Repeats (STRs) Single Nucleotide

Polymorphisms (SNPs)

Current DNA Fingerprint

New DNA Blueprint

Junk DNA Regions Coding DNA Regions Location:

S2 S5 S8

0 1 1

1 0 1

0 2 1

S2 S5 S8

0 1 1

1 0 1

0 2 1

Challenge: Millions of Data Points Person S1 S2 S3 S4 S5 S6 S7 S8 S9 S10 S500K Trait e.g. Skin Color

Subject #1 1 0 0 1 0 1 1 0 1 1 1 0.78 Subject #2 0 0 1 0 0 1 0 1 1 0 1 0.24 Subject #3 0 1 0 2 1 1 0 0 0 1 0 0.19 Subject #4 1 0 0 1 1 0 2 0 1 0 2 0.83

Person S1 S2 S3 S4 S5 S6 S7 S8 S9 S10 Trait

Subject #1 1 0 0 1 0 1 1 0 1 1 0.78

Subject #2 0 0 1 0 0 1 0 1 1 0 0.24

Subject #3 0 1 0 2 1 1 0 0 0 1 0.19

Subject #4 1 0 0 1 1 0 2 0 1 0 0.83

Person S1 S7 S9

Subject #1 1 1 1

Subject #2 0 0 1

Subject #3 0 0 0

Subject #4 1 2 1

Min

ing

Mod

elin

g

Person S3 S4 S6

Subject #1 0 1 1

Subject #2 1 0 1

Subject #3 0 2 1

Subject #4 0 1 0

S3 S4 S6

0 1 1

1 0 1

0 2 1

S1 S7 S9

1 1 1

0 0 1

0 0 0

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

C O M P U T E P L A T F O R M

Predictive Analysis

S1 S2 S3 S4 S5 S6 S7 S8 S500K 1 1 0 1 2 0 1 0 0

Trait e.g. Skin Color

???

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

Trait 0.89

+ =

Trait Trait Value (Formula) Skin Color (2.4)*S2 + (1.7)*S5 + (0.6)*S12 Eye Color (5.3)*S16 + (3.6)*S21 + (7.1)*S35 Hair Color (7.4)*S12 + (4.3)*S5 + (1.4)*S12

Height (2.6)*S36 + (3.9)*S5 + (4.8)*S12 Freckles (8.1)*S6 + (6.2)*S5 + (12.4)*S12

Subject X

0.89

4.2

3.4

70.0

1.5

Using the models developed in the previous step, we can now make predictions from unknown DNA samples

Predicting Genetic Ancestry

Li et al. 2008

! 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

Traits Snapshot Can Predict

7

Identity!Sex!Genetic

Ancestry!

Body!Height!Blood Type!BMI!Body Proportions!Waist-to-Hip Ratio!Handedness!Flat feet!Stuttering!Dyslexia!! and many others!

Face!Face Morphology!Eye Color!Hair Color!Skin Color!Freckling!Hair Morphology!Ability to tan!Dimples!Hair line!Ear shape!Vision correction!

Current Future

Snapshot Use Cases ! Originally targeted for

US Special Operations Command (SOCOM) US Army Criminal Investigation Laboratory (USACIL)

! Trait Prediction Battleeld and crime scene investigation Post-mortem identication

! Kinship Identication of relatives Conrmation of claimed relationships Reverse engineering of tribal networks

Case Study: Baton Rouge Serial Killer ! Killed at least 7 people, possibly more (1992-2003) ! Based on one witness account and FBIs typical

prole 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 signicantly West African

! Law enforcement redirected its eorts 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 sucient evidence)

Snapshot Screenshots