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The Parabon Snapshot DNA Phenotyping System
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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