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Evaluation of the impact of genetic linkage in forensic identity and relationship testing for expanded DNA marker sets
Linköping University, Department of Clinical and Experimental Medicine, Division of Microbiology and Molecular Medicine. Linköping University, Faculty of Medicine and Health Sciences. National Board Forens Med, Department Forens Genet and Forens Toxicol, Artillerigatan 12, SE-58758 Linkoping, Sweden.
University of Santiago Compostela, Spain.
2017 (English)In: Forensic Science International: Genetics, ISSN 1872-4973, E-ISSN 1878-0326, Vol. 26, 58-65 p.Article in journal (Refereed) Published
Abstract [en]

Advances in massively parallel sequencing technology have enabled the combination of a much-expanded number of DNA markers (notably STRs and SNPs in one or combined multiplexes), with the aim of increasing the weight of evidence in forensic casework. However, when data from multiple loci on the same chromosome are used, genetic linkage can affect the final likelihood calculation. In order to study the effect of linkage for different sets of markers we developed the biostatistical tool ILIR, (Impact of Linkage on forensic markers for Identity and Relationship tests). The ILIR tool can be used to study the overall impact of genetic linkage for an arbitrary set of markers used in forensic testing. Application of ILIR can be useful during marker selection and design of new marker panels, as well as being highly relevant for existing marker sets as a way to properly evaluate the effects of linkage on a case-by-case basis. ILIR, implemented via the open source platform R, includes variation and genomic position reference data for over 40 STRs and 140 SNPs, combined with the ability to include additional forensic markers of interest. The use of the software is demonstrated with examples from several different established marker sets (such as the expanded CODIS core loci) including a review of the interpretation of linked genetic data. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

Place, publisher, year, edition, pages
ELSEVIER IRELAND LTD , 2017. Vol. 26, 58-65 p.
Keyword [en]
Biostatistics; Random match calculations; Relationship testing; Linkage; Linkage disequilibrium; Simulation; CODIS loci
National Category
Genetics
Identifiers
URN: urn:nbn:se:liu:diva-133726DOI: 10.1016/j.fsigen.2016.10.007ISI: 000389912400016PubMedID: 27792893OAI: oai:DiVA.org:liu-133726DiVA: diva2:1063904
Available from: 2017-01-11 Created: 2017-01-09 Last updated: 2017-01-11

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Tillmar, Andreas
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CiteExportLink to record
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Citation style
  • apa
  • harvard1
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