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
-
Balding, D. J. (2013): “Evaluation of mixed-source, low-template DNA profiles in forensic science,” Proc. Natl. Acad. Sci. USA 110, 12241–12246.
-
Balding, D. J. and J. Buckleton (2009): “Interpreting low template DNA profiles,” Forensic Sci. Int.-Gen., 4, 1–10.
-
Balding, D. J. and C. D. Steele (2015): Weight-of-evidence for Forensic DNA Profiles, 2nd Ed., London: John Wiley & Sons.
-
Benschop, C. C. G., S. Y. Yoo and T. Sijen (2015): “Split DNA over replicates or perform one amplification?,” Forensic Sci. Int.-Gen. Supplement Series, 5, e532–e533.
-
Bleka, Ø., G. Storvik and P. Gill (2016): “EuroForMix: An open source software based on a continuous model to evaluate STR DNA profiles from a mixture of contributors with artefacts,” Forensic Sci. Int.-Gen., 21, 35–44.
-
Bright, J.-A., J. M. Curran and J. S. Buckleton (2013a): “Relatedness calculations for linked loci incorporating subpopulation effects,” Forensic Sci. Int.-Gen., 7, 380–383.
-
Bright, J.-A., D. Taylor, J. M. Curran and J. S. Buckleton (2013b): “Developing allelic and stutter peak height models for a continuous method of DNA interpretation,” Forensic Sci. Int.-Gen., 7, 96–304.
-
Bright, J.-A., I. W. Evett, D. Taylor, J. M. Curran and J. Buckleton (2015): “A series of recommended tests when validating probabilistic DNA profile interpretation software,” Forensic Sci. Int.-Gen., 14, 125–131.
-
Brookes, C., J.-A. Bright, S. Harbison and J. Buckleton (2012): “Characterising stutter in forensic STR multiplexes,” Forensic Sci. Int.-Gen., 6, 58–63.
-
Buckleton, J. and J. Curran (2008): “A discussion of the merits of random man not excluded and likelihood ratios,” Forensic Sci. Int.-Gen., 2, 343–348.
-
Champod, C. (2013): “DNA transfer: informed judgment or mere guesswork?,” Front. Genet., 4, 300.
-
Cowell, R. G., T. Graversen, S. L. Lauritzen and J. Mortera (2015): “Analysis of forensic DNA mixtures with artefacts,” J. Roy. Stat. Soc. C-App., 64, 1–48.
-
Dørum, G., D. Kling, A. Tillmar, M. D. Vigeland and T. Egeland (2016): “Mixtures with relatives and linked markers,” Int. J. Legal Med., 130, 621–634.
-
Gill, P. and H. Haned (2013): “A new methodological framework to interpret complex DNA profiles using likelihood ratios,” Forensic Sci. Int.-Gen., 7, 251–263.
-
Gill, P., J. Whitaker, C. Flaxman, N. Brown and J. Buckleton (2000): “An investigation of the rigor of interpretation rules for STRs derived from less than 100 pg of DNA,” Forensic Sci. Int., 112, 17–40.
-
Gill, P., C. H. Brenner, J. S. Buckleton, A. Carracedo, M. Krawczak, W. R. Mayr, N. Morling, M. Prinz, P. M. Schneider and B. S. Weir (2006): “DNA commission of the International Society of Forensic Genetics: Recommendations on the interpretation of mixtures,” Forensic Sci. Int., 160, 90–101.
-
Gill, P., J. Curran, C. Neumann, A. Kirkham, T. Clayton, J. Whitaker and J. Lambert (2008): “Interpretation of complex DNA profiles using empirical models and a method to measure their robustness,” Forensic Sci. Int.-Gen., 2, 91–103.
-
Gill, P., L. Gusmão, H. Haned, W. R. Mayr, N. Morling, W. Parson, L. Prieto, M. Prinz, H. Schneider, P. M. Schneider and B. S. Weir (2012): “DNA commission of the International Society of Forensic Genetics: Recommendations on the evaluation of STR typing results that may include drop-out and/or drop-in using probabilistic methods,” Forensic Sci. Int.-Gen., 6, 679–688.
-
Good, I. J. (1950): Probability and the weighing of evidence, Ann Arbor, MI, USA: JSTOR.
-
Graversen, T. and S. Lauritzen (2014): “Computational aspects of DNA mixture analysis,” Stat. Comput., 25, 527–541.
-
Haned, H., L. Pene, J. R. Lobry, A. B. Dufour and D. Pontier (2011): “Estimating the number of contributors to forensic DNA mixtures: does maximum likelihood perform better than maximum allele count?,” J. Forensic Sci., 56, 23–28.
-
Kelly, H., J.-A. Bright, J. S. Buckleton and J. M. Curran (2014): “Identifying and modelling the drivers of stutter in forensic DNA profiles,” Aust. J. Forensic Sci., 46, 194–203.
-
Manabe, S., C. Kawai and K. Tamaki (2013): “Simulated approach to estimate the number and combination of known/unknown contributors in mixed DNA samples using 15 short tandem repeat loci,” Forensic Sci. Int.-Gen. Supplement Series, 4, e154–e155.
-
McCord, B. R., J. M. Jung and E. A. Holleran (1993): “High resolution capillary electrophoresis of forensic DNA using a non-gel sieving buffer,” J Liq. Chromatogr. R. T., 16, 1963–1981.
-
Mullen, K. M., D. Ardia, D. L. Gil, D. Windover, and J. Cline (2011): “DEoptim: An R package for global optimization by differential evolution,” J. Stat. Softw., 40, 1–26.
-
Nathakarnkitkool, S., P. J. Oefner, G. Bartsch, M. A. Chin and G. K. Bonn (1992): “High-resolution capillary electrophoretic analysis of DNA in free solution,” Electrophoresis, 13, 18–31.
-
Perlin, M. W., M. M. Legler, C. E. Spencer, J. L. Smith, W. P. Allan, J. L. Belrose and B. W. Duceman (2011): “Validating TrueAllele DNA mixture interpretation,” J. Forensic Sci., 56, 1430–1447.
-
Puch-Solis, R., L. Rodgers, A. Mazumder, S. Pope, I. Evett, J. Curran and D. Balding (2013): “Evaluating forensic DNA profiles using peak heights, allowing for multiple donors, allelic dropout and stutters,” Forensic Sci. Int.-Gen., 7, 555–563.
-
Ruiz-Martinez, M. C., O. Salas-Solano, E. Carrilho, L. Kotler and B. L. Karger (1998): “A sample purification method for rugged and high-performance DNA sequencing by capillary electrophoresis using replaceable polymer solutions. A. Development of the cleanup protocol,” Anal. Chem., 70, 1516–1527.
-
Steele, C. D. and D. J. Balding (2014): “Choice of population database for forensic DNA profile analysis,” Sci. Justice, 54, 487–493.
-
Steele, C. D., M. Greenhalgh and D. J. Balding (2014a): “Verifying likelihoods for low template DNA profiles using multiple replicates,” Forensic Sci. Int.-Gen., 13, 82–89.
-
Steele, C. D., D. S. Court and D. J. Balding (2014b): “Worldwide F ST estimates relative to five continental-scale populations,” Ann. Hum. Genet., 78, 468–477.
-
Taylor, D., J. Buckleton and I. Evett (2015): “Testing likelihood ratios produced from complex DNA profiles,” Forensic Sci. Int.-Gen., 16, 165–171.
-
Taylor, D., J.-A. Bright, C. McGoven, C. Hefford, T. Kalafut and J. Buckleton (2016): “Validating multiplexes for use in conjunction with modern interpretation strategies,” Forensic Sci. Int.-Gen., 20, 6–19.
-
Tvedebrink, T., P. S. Eriksen, H. S. Mogensen and N. Morling (2009): “Estimating the probability of allelic drop-out of STR alleles in forensic genetics,” Forensic Sci. Int.-Gen., 3, 222–226.
-
Williams, P. E., M. A. Marino, S. A. Del Rio, L. A. Turni and J. M. Devaney (1994): “Analysis of DNA restriction fragments and polymerase chain reaction products by capillary electrophoresis,” J. Chromatogr. A, 680, 525–540.
Cellmark Forensic Services, (Grant/Award Number: “CMD-PHD1”) Biotechnology and Biological Sciences Research Council, (Grant/Award Number: “507493”)
©2016 Walter de Gruyter GmbH, Berlin/Boston.
