How TrueAllele ® Works (Part 3) Kinship, Paternity and Missing Persons Cybergenetics Webinar December, 2014 Mark W Perlin, PhD, MD, PhD Cybergenetics,

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Presentation transcript:

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

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

Bayes theorem

child1 child2 child3 Pedigree personspouse fathermother XS FM C1C2C3

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

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

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

Likelihood child personspouse XS C ab bbaa

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

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

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

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

child Paternity biological father XS C spouse

Paternity genotype D7S820

Genotype comparison XS C A alleged father biological father child spouse

Paternity index LR = 3.28 log(LR) = ,10

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

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

Biological mother genotype child X C biological mother

Identifying the mother A1 A2 A3 A4 A5 A6

Missing person child1 child2 child3 person X C1C2C

Children + Spouse personspouse XS C1C2C3 child1 child2 child

Parents + Children person fathermother X FM C1C2C3 child1 child2 child

Parents + Children + Spouse personspouse XS FM C1C2C3 child1 child2 child3 fathermother

DNA mixture

Mixture + Kinship person father X F

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

Contributor genotype match mixturekinship population LR = 39,700 log(LR) =

How TrueAllele 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