Highlights
- •A biostatistical tool for analyzing the overall effect of linkage on likelihood calculations in various forensic genetic case scenarios is presented.
- •The tool is provided as a command script via the open-source platform R and is prepared with reference data for over 40 STRs and 140 SNPs.
- •The tool can be used during marker selection and the design of new marker panels or applied to existing marker sets to examine the effect of linkage on a case-by-case basis.
- •Studies of existing forensic marker panels show the impact of linkage is generally small, but may be more considerable in individual cases.
Abstract
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.
Keywords
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Article info
Publication history
Published online: October 14, 2016
Accepted:
October 13,
2016
Received in revised form:
October 7,
2016
Received:
July 6,
2016
Identification
Copyright
© 2016 Elsevier Ireland Ltd. All rights reserved.
