TY - JOUR
T1 - Distinguishing genetically between the germlines of male monozygotic twins
AU - Krawczak, Michael
AU - Budowle, Bruce
AU - Weber-Lehmann, Jacqueline
AU - Rolf, Burkhard
N1 - Publisher Copyright:
© 2018 Krawczak et al. http://creativecommons.org/licenses/by/4.0/.
PY - 2018/12
Y1 - 2018/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85058908482&partnerID=8YFLogxK
U2 - 10.1371/journal.pgen.1007756
DO - 10.1371/journal.pgen.1007756
M3 - Article
C2 - 30571769
AN - SCOPUS:85058908482
SN - 1553-7390
VL - 14
JO - PLoS Genetics
JF - PLoS Genetics
IS - 12
M1 - e1007756
ER -