Distinguishing genetically between the germlines of male monozygotic twins

Michael Krawczak, Bruce Budowle, Jacqueline Weber-Lehmann, Burkhard Rolf

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Identification of the potential donor(s) of human germline-derived cells is an issue in many criminal investigations and in paternity testing. The experimental and statistical methodology necessary to work up such cases is well established but may be more challenging if monozygotic (MZ) twins are involved. Then, elaborate genome-wide searches are required for the detection of early somatic mutations that distinguish the cell sample and its donor from the other twin, usually relying upon reference material other than semen (e.g. saliva). The first such cases, involving either criminal sexual offenses or paternity disputes, have been processed successfully by Eurofins Genomics and Forensics Campus. However, when presenting the experimental results in court, common forensic genetic practice requires that the residual uncertainty about donorship is quantified in the form of a likelihood ratio (LR). Hence, we developed a general mathematical framework for LR calculation, presented herein, which allows quantification of the evidence in favour of the true donor in the respective cases, based upon observed DNA sequencing read counts.

Original languageEnglish
Article numbere1007756
JournalPLoS Genetics
Volume14
Issue number12
DOIs
StatePublished - 1 Dec 2018

Fingerprint

Monozygotic Twins
paternity
germ cells
Paternity
Tissue Donors
somatic mutation
saliva
Forensic Genetics
semen
mutation
genomics
Dissent and Disputes
uncertainty
sequence analysis
genome
cells
Genomics
Semen
DNA Sequence Analysis
Saliva

Cite this

Krawczak, Michael ; Budowle, Bruce ; Weber-Lehmann, Jacqueline ; Rolf, Burkhard. / Distinguishing genetically between the germlines of male monozygotic twins. In: PLoS Genetics. 2018 ; Vol. 14, No. 12.
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Distinguishing genetically between the germlines of male monozygotic twins. / Krawczak, Michael; Budowle, Bruce; Weber-Lehmann, Jacqueline; Rolf, Burkhard.

In: PLoS Genetics, Vol. 14, No. 12, e1007756, 01.12.2018.

Research output: Contribution to journalArticle

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