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Choosing supplementary markers in forensic casework
Linköping University, Department of Clinical and Experimental Medicine, Division of Microbiology and Molecular Medicine. Linköping University, Faculty of Health Sciences. National Board Forens Med, Department Forens Genet and Forens Toxicol, Linkoping, Sweden.
University of Gothenburg, Sweden; Norwegian University of Life Science, Norway.
2014 (English)In: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 13, 128-133 p.Article in journal (Refereed) Published
Abstract [en]

The vast majority of human familial identifications based on DNA end up with a well founded conclusion, normally using a standard set of genetic short tandem repeat (STR) loci. There are, however, a proportion of cases that show ambiguous results. For such occasions a number of different supplementary markers could be typed in order to gain further information. There are numerous markers available for such supplementary DNA typing, including STRs, deletion and insertion polymorphisms (DIPs), and single nucleotide polymorphisms (SNPs). The purpose of this work was to describe a precise method for decision making, aiming to aid the comparison of different sets of markers for different case scenarios in order to find the most efficient set for routine casework. Comparisons are based on a particular function relating the expected additional value of information from new data to the amount of information already obtained from initial data. The function can be computed approximately by approximating likelihood-based error rates using simulation. In this paper we focused on paternity investigations, more specifically the use of supplementary markers in cases where a smaller number of genetic inconsistencies make the matter inconclusive. We applied the method to a comparison of three different kits: Investigator HDplex (STRs), Investigator DIPplex (DIPs), and the SNPforID-plex (SNPs) to study their efficiencies in gaining information in different case scenarios involving various alternative relationships between the tested man and the tested child. We show that the Investigator HDplex was the most efficient set of supplementary markers for the standard paternity case. However, for paternity cases with a close relative being the alternative father, the Investigator HDplex and the SNPforID-plex showed similar patterns in their ability to deliver a well-founded conclusion. The Investigator DIPplex was the least efficient set.

Place, publisher, year, edition, pages
Elsevier , 2014. Vol. 13, 128-133 p.
Keyword [en]
Decision making; Error rate; Paternity testing; Simulation
National Category
Other Medical Sciences
URN: urn:nbn:se:liu:diva-111593DOI: 10.1016/j.fsigen.2014.06.019ISI: 000342444400026PubMedID: 25113577OAI: diva2:758607
Available from: 2014-10-27 Created: 2014-10-27 Last updated: 2014-10-27

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Tillmar, Andreas O.
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Division of Microbiology and Molecular MedicineFaculty of Health Sciences
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