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Evaluation of low-template DNA profiles using peak heights

Steele, CD; Greenhalgh, M; Balding, DJ; (2016) Evaluation of low-template DNA profiles using peak heights. Statistical Applications in Genetics and Molecular Biology , 15 (5) pp. 431-445. 10.1515/sagmb-2016-0038. Green open access

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Abstract

In recent years statistical models for the analysis of complex (low-template and/or mixed) DNA profiles have moved from using only presence/absence information about allelic peaks in an electropherogram, to quantitative use of peak heights. This is challenging because peak heights are very variable and affected by a number of factors. We present a new peak-height model with important novel features, including over- and double-stutter, and a new approach to dropin. Our model is incorporated in open-source R code likeLTD. We apply it to 108 laboratory-generated crime-scene profiles and demonstrate techniques of model validation that are novel in the field. We use the results to explore the benefits of modeling peak heights, finding that it is not always advantageous, and to assess the merits of pre-extraction replication. We also introduce an approximation that can reduce computational complexity when there are multiple low-level contributors who are not of interest to the investigation, and we present a simple approximate adjustment for linkage between loci, making it possible to accommodate linkage when evaluating complex DNA profiles.

Type: Article
Title: Evaluation of low-template DNA profiles using peak heights
Open access status: An open access version is available from UCL Discovery
DOI: 10.1515/sagmb-2016-0038
Publisher version: http://dx.doi.org/10.1515/sagmb-2016-0038
Language: English
Additional information: Copyright © 2016 by Walter de Gruyter GmbH. The published version of record is available on the journal website at http://dx.doi.org/10.1515/sagmb-2016-0038
Keywords: DNA mixtures; forensic; likelihood ratio; likeLTD; low-template DNA; peak heights
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
URI: https://discovery.ucl.ac.uk/id/eprint/1505784
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