How True Allele Works Part 3 Kinship Paternity

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How True. Allele® Works (Part 3) Kinship, Paternity and Missing Persons Cybergenetics Webinar December,

How True. Allele® Works (Part 3) Kinship, Paternity and Missing Persons Cybergenetics Webinar December, 2014 Mark W Perlin, Ph. D, MD, Ph. D Cybergenetics, Pittsburgh, PA Cybergenetics © 2003 -2014

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

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

Bayes theorem

Bayes theorem

Pedigree father F mother M person X child 1 C 1 spouse S child

Pedigree father F mother M person X child 1 C 1 spouse S child 2 child 3 C 2 C 3

Prior probability How a variable is affected father F aa mother M ab person

Prior probability How a variable is affected father F aa mother M ab person X

Prior probability father F aa mother M bc person X Punnett square b c

Prior probability father F aa mother M bc person X Punnett square b c a ab ac X = ab 1/2 ac 1/2

Likelihood How a variable affects others person X spouse S bb child C ab

Likelihood How a variable affects others person X spouse S bb child C ab

Likelihood person spouse X S aa bb aa child aa C ab

Likelihood person spouse X S aa bb aa child aa C ab

Posterior probability father F aa mother M bc person spouse X S bb child

Posterior probability father F aa mother M bc person spouse X S bb child C ab

Posterior probability father F aa mother M bc person spouse X S bb child

Posterior probability father F aa mother M bc person spouse X S bb child C ab

Genotype comparison alleged person A ab father F aa mother M bc person spouse

Genotype comparison alleged person A ab father F aa mother M bc person spouse X S bb child C ab

Bayes theorem, second round Hypothesis: The missing and reference persons are the same individual

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

Match strength

Match strength

Paternity biological father X spouse S child C

Paternity biological father X spouse S child C

Paternity genotype D 7 S 820

Paternity genotype D 7 S 820

Genotype comparison alleged father biological father A X spouse S child C

Genotype comparison alleged father biological father A X spouse S child C

Paternity index 10, 10 LR = 3. 28 log(LR) = 0. 52

Paternity index 10, 10 LR = 3. 28 log(LR) = 0. 52

LR = 258, 000 log(LR) = 5. 41 Paternity

LR = 258, 000 log(LR) = 5. 41 Paternity

Maternity question biological mother X child C alleged mothers A 1 A 4 A

Maternity question biological mother X child C alleged mothers A 1 A 4 A 2 A 5 A 3 A 6

Biological mother genotype biological mother X child C

Biological mother genotype biological mother X child C

Identifying the mother A 1 A 2 A 3 A 4 A 5 A

Identifying the mother A 1 A 2 A 3 A 4 A 5 A 6

Missing person 1 person X child 1 C 1 1+2 child 3 C 2

Missing person 1 person X child 1 C 1 1+2 child 3 C 2 C 3 1+2+3

Children + Spouse 1 person X child 1 C 1 spouse S child 2

Children + Spouse 1 person X child 1 C 1 spouse S child 2 child 3 C 2 C 3 1+2+3

Parents + Children father F mother M person X child 1 C 1 1

Parents + Children father F mother M person X child 1 C 1 1 1+2 child 3 C 2 C 3 1+2+3

Parents + Children + Spouse father F mother M person X child 1 C

Parents + Children + Spouse father F mother M person X child 1 C 1 spouse S child 2 child 3 C 2 C 3 1 1+2+3

DNA mixture

DNA mixture

Mixture + Kinship father F person X

Mixture + Kinship father F person X

Mixture + Kinship genotypes CSF 1 PO Separated minor contributor Kinship inferred son Random

Mixture + Kinship genotypes CSF 1 PO Separated minor contributor Kinship inferred son Random person

Contributor genotype match LR = 39, 700 log(LR) = 4. 60 mixture kinship population

Contributor genotype match LR = 39, 700 log(LR) = 4. 60 mixture kinship population -18. 00 -20. 58 -20. 66 -20. 76 -22. 00 -24. 97 -26. 00 -28. 00

How True. Allele Works Part 1, 16 -Oct-2014 Genotype modeling and the likelihood ratio

How True. Allele Works 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 http: //www. cybgen. com/information/webinar/page. shtml perlin@cybgen. com