1. How TrueAllele ® Works (Part 3) Kinship, Paternity and Missing Persons Cybergenetics Webinar December, 2014 Mark W Perlin, PhD, MD, PhD Cybergenetics, Pittsburgh, PA Cybergenetics © 2003-2014

2. Kinship Task. Infer genotypes and match them Tool. Bayes theorem Data. Genotypes of family members

3. Bayes theorem

4. child1 child2 child3 Pedigree personspouse fathermother XS FM C1C2C3

5. Prior probability X FM person fathermother aaab How a variable is affected

6. Prior probability person fathermother X FM aabc bc aababacac aababacac ab 1/2 ac 1/2 X = Punnett square

7. Likelihood child personspouse XS C ab bb How a variable affects others

8. Likelihood child personspouse XS C ab bbaa

9. Posterior probability person fathermother XS FM C aabc ab bb child spouse

10. Posterior probability person fathermother XS FM C aabc ab bb child spouse

11. Genotype comparison person fathermother XS FM C aabc ab bb child spouse A alleged person ab

12. Bayes theorem, second round Hypothesis: The missing and reference persons are the same individual Posterior to prior genotype probability ratio (Essen-Moller, 1938).

13. Match strength

14. child Paternity biological father XS C spouse

15. Paternity genotype D7S820

16. Genotype comparison XS C A alleged father biological father child spouse

17. Paternity index LR = 3.28 log(LR) = 0.52 10,10

18. Paternity LR = 258,000 log(LR) = 5.41

19. Maternity question child X C A1 alleged mothers A2 A3 A4 A5 A6 biological mother

20. Biological mother genotype child X C biological mother

21. Identifying the mother A1 A2 A3 A4 A5 A6

22. Missing person child1 child2 child3 person X C1C2C3 1 1+2 1+2+3

23. Children + Spouse personspouse XS C1C2C3 child1 child2 child3 1 1+2 1+2+3

24. Parents + Children person fathermother X FM C1C2C3 child1 child2 child3 1 1+2 1+2+3

25. Parents + Children + Spouse personspouse XS FM C1C2C3 child1 child2 child3 fathermother 1 1+2 1+2+3

26. DNA mixture

27. Mixture + Kinship person father X F

28. Mixture + Kinship genotypes CSF1PO Separated minor contributor Kinship inferred son Random person

29. Contributor genotype match mixturekinship population LR = 39,700 log(LR) = 4.60 -18.00 -20.58 -20.66 -20.76 -22.00 -24.00 -24.97 -26.00 -28.00

30. How TrueAllele Works perlin@cybgen.com http://www.cybgen.com/information/webinar/page.shtml Part 1, 16-Oct-2014 Genotype modeling and the likelihood ratio Part 2, 20-Nov-2014 Degraded DNA and allele dropout Part 3, 18-Dec-2014 Kinship, paternity and missing persons Part 4, 15-Jan-2015 Genotype database and DNA investigation