Information on DNA Mixture Interpretation
Workshops, Presentations, and
Training Information
-
SWGDAM Mixture Committee Resource Page:
http://www.cstl.nist.gov/biotech/strbase/mixture/SWGDAM-mixture-info.htm 
-
Mixture Interpretation: Using Scientific Analysis
(ISHI 2011 Workshop: Butler, Coble, Cotton, Grgicak, Word)
-
DNA Mixture Analysis:
Principles and Practice of Mixture Interpretation and Statistical Analysis
Using the SWGDAM STR Interpretation Guidelines (AAFS 2011 Workshop: Butler,
Coble, Bille, Adamowicz, Sgueglia, Shutler, Gombos, Wickenheiser)
-
Mixture
Interpretation: Principles, Protocols, and Practice
(Workshop: J.M. Butler, M.D. Coble, R.W. Cotton, C.M. Grgicak, C.J. Word, ISHI
2010)
-
SWGDAM Autosomal
STR Interpretation Guidelines (Talk: John Butler, ISHI 2010) - [link
to guidelines]
-
DNA Mixture Interpretation: Principles and Practice in Component Deconvolution
and Statistical Analysis (Workshop, AAFS 2008)
Links to software programs or
information
-
Talk given by Mike Coble at the
International Society of Forensic Genetics (ISFG) meeting (Vienna, Austria),
September 3, 2011, "Exploring the Capabilities of Mixture Interpretation Using
TrueAllele Software" [.pdf]
Literature References on Elements of Mixture
Interpretation
Rudin, N.
& Inman, K. (2012).
The discomfort of thought - a discussion with John Butler.
The CACNews. 1st Quarter 2012, pp.
8-11.
Mixture Principles &
Recommendations
Buckleton, J.S., & Curran, J.M. (2008). A
discussion of the merits of random man not excluded and likelihood ratios.
Forensic Science International: Genetics, 2, 343-348.
Budowle, B., et al. (2009). Mixture
interpretation: defining the relevant features for guidelines for the
assessment of mixed DNA profiles in forensic casework. Journal of Forensic
Sciences, 54, 810-821.
DNA Advisory Board (2000) Statistical and
population genetic issues affecting the evaluation of the frequency of
occurrence of DNA profiles calculated from pertinent population database(s)
(approved 23 February 2000). Forensic Science Communications, July 2000.
Available at:
http://www.fbi.gov/about-us/lab/forensic-science-communications/fsc/july2000/dnastat.htm.
Gill, P., et al. (2006). DNA commission of the
International Society of Forensic Genetics: Recommendations on the
interpretation of mixtures. Forensic Science International, 160,
90-101.
Gill, P., et al. (2008). National recommendations
of the technical UK DNA working group on mixture interpretation for the NDNAD
and for court going purposes. Forensic Science International: Genetics,
2, 76-82.
Morling, N., et al. (2007). Interpretation of DNA
mixtures – European consensus on principles. Forensic Science
International: Genetics, 1, 291-292.
Schneider, P.M., et al. (2006). Editorial on the
recommendations of the DNA commission of the ISFG on the interpretation of
mixtures. Forensic Science International, 160, 89-89.
Schneider, P.M., et al. (2009). The German Stain
Commission: recommendations for the interpretation of mixed stains.
International Journal of Legal Medicine, 123, 1-5. (originally
published in German in 2006 -- Rechtsmedizin 16:401-404).
Stringer, P., et al. (2009). Interpretation of DNA
mixtures—Australian and New Zealand consensus on principles. Forensic
Science International: Genetics, 3, 144-145.
SWGDAM (2010). SWGDAM interpretation guidelines
for autosomal STR typing by forensic DNA testing laboratories. Available at
http://www.fbi.gov/about-us/lab/codis/swgdam.pdf.
Wickenheiser, R.A. (2006). General guidelines for
categorization and interpretation of mixed STR DNA profiles. Canadian
Society of Forensic Science Journal, 39, 179-216.
Setting Thresholds
Currie, L. (1999). Detection and quantification
limits: origin and historical overview. Analytica Chimica Acta, 391,
127–134.
Gilder, J.R., et al. (2007). Run-specific limits
of detection and quantitation for STR-based DNA testing. Journal of
Forensic Sciences, 52, 97-101.
Gill, P., et al. (2009). The low-template-DNA
(stochastic) threshold -- its determination relative to risk analysis for
national DNA databases. Forensic Science International: Genetics, 3,
104-111.
Gill, P. and Buckleton, J. (2010). A universal
strategy to interpret DNA profiles that does not require a definition of
low-copy-number. Forensic Science International: Genetics, 4, 221-227.
Kaiser, H. (1970). Report for analytical chemists:
part II. Quantitation in elemental analysis. Analytical Chemistry, 42,
26A-59A.
Long, G.L., & Winefordner, J.D. (1983). Limit of
detection: a closer look at the IUPAC definition. Analytical Chemistry, 55,
712A-724A.
Miller J.C., & Miller J.N. (2005). Errors in
instrumental analysis; regression and correlation in Statistics for
Analytical Chemistry, Ellis Horwood and Prentice Hall, pp. 101-137.
Mocak, J., Bond, A.M., Mitchell, S., & Scollary,
G. (1997). A statistical overview of standard (IUPAC and ACS) and new
procedures for determining the limits of detection and quantification:
application to voltammetric and stripping techniques. Pure and Applied
Chemistry, 69, 297-328.
Puch-Solis, R., et al. (2011). Practical
determination of the low template DNA threshold. Forensic Science
International: Genetics, 5(5), 422-427.
Rubinson, K.A,, & Rubinson, J.F. (2000). Sample
size and major, minor, trace, and ultratrace components. Contemporary
Instrumental Analysis. Upper Saddle River: Prentice Hall, pp. 150–158.
Stutter Products &
Peak Height Ratios
Blackmore, V.L., et al.
(2000). Preferential amplification and stutter observed in population database
samples using the AmpFlSTR Profiler multiplex system. Canadian Society of
Forensic Sciences Journal, 33, 23-32.
Bright, J.-A., et al. (2010). Examination of the
variability in mixed DNA profile parameters for the Identifiler multiplex.
Forensic Science International: Genetics, 4, 111-114.
Bright, J.-A., et al. (2011). Determination of the
variables affecting mixed MiniFiler™ DNA profiles. Forensic Science
International: Genetics, 5(5), 381-385.
Brookes, C., Bright, J.A., Harbison, S.,
Buckleton, J. (2011). Characterising stutter in forensic STR multiplexes.
Forensic Sci Int Genet.
(in press).
Buckleton, J. (2009).
Validation issues
around DNA typing of low level DNA.
Forensic Science International: Genetics,
3,
255-260.
Buse, E.L., et al. (2003). Performance evaluation
of two multiplexes used in fluorescent short tandem repeat DNA analysis.
Journal of Forensic Sciences, 48, 348-357.
Debernardi, A., et al. (2011). One year
variability of peak heights, heterozygous balance and inter-locus balance for
the DNA positive control of AmpFlSTR Identifiler STR kit. Forensic Science
International: Genetics, 5(1), 43-49.
Gibb, A.J., et al. (2009). Characterisation of
forward stutter in the AmpFlSTR SGM Plus PCR. Science & Justice, 49,
24-31.
Gilder, J.R., et al. (2011). Magnitude-dependent
variation in peak height balance at heterozygous STR loci. International
Journal of Legal Medicine, 125, 87-94.
Gill, P., et al. (1997). Development of guidelines
to designate alleles using an STR multiplex system. Forensic Science
International, 89, 185-197.
Gill, P., et al. (1998). Interpretation of simple
mixtures when artifacts such as stutters are present—with special reference to
multiplex STRs used by the Forensic Science Service. Forensic Science
International, 95, 213-224.
Hill, C.R., et al. (2011). Concordance and
population studies along with stutter and peak height ratio analysis for the
PowerPlex® ESX 17 and ESI 17 Systems. Forensic Science
International: Genetics, 5, 269-275.
Leclair,
B., et al. (2004). Systematic analysis of stutter percentages and allele peak
height and peak area ratios at heterozygous STR loci for forensic casework and
database samples. Journal of Forensic Sciences, 49, 968-980.
Moretti, T.R., et al. (2001). Validation of short
tandem repeats (STRs) for forensic usage: performance testing of fluorescent
multiplex STR systems and analysis of authentic and simulated forensic
samples. Journal of Forensic Sciences, 46, 647-660.
Moretti, T.R., et al. (2001). Validation of STR
typing by capillary electrophoresis. Journal of Forensic Sciences,
46, 661-676.
Mulero, J.J., et al. (2006). Characterization of
the N+3 stutter product in the trinucleotide repeat locus DYS392. Journal
of Forensic Sciences, 51, 1069-1073.
Wallin, J.M., et al. (1998). TWGDAM validation of
the AmpFISTR Blue PCR amplification kit for forensic casework analysis.
Journal of Forensic Sciences, 43, 854-870.
Walsh, P.S., et al. (1996).
Sequence analysis and characterization of stutter products at the
tetranucleotide repeat locus vWA. Nucleic Acids Research, 24,
2807-2812.
Stochastic Effects &
Allele Dropout
Balding, D.J., & Buckleton, J. (2009).
Interpreting low template DNA profiles. Forensic Science International:
Genetics, 4: 1-10.
Bright, J.-A., et al. (2011). A comparison of
stochastic variation in mixed and unmixed casework and synthetic samples.
Forensic Science International: Genetics, (in
press).
Gill, P., et al. (2005). A graphical simulation
model of the entire DNA process associated with the analysis of short tandem
repeat loci. Nucleic Acids Research, 33, 632-643.
Haned, H., et al. (2011). Estimating drop-out
probabilities in forensic DNA samples: a simulation approach to evaluate
different models. Forensic Science International: Genetics, 5,
525-531.
Kelly, H., Bright, J.A., Curran, J., Buckleton, J.
(2011). The interpretation of low level DNA mixtures. Forensic Science
International: Genetics, (in press).
Puch-Solis, R., et al. (2009). Assigning weight of
DNA evidence using a continuous model that takes into account stutter and
dropout. Forensic Science International: Genetics Supplement Series,
2, 460-461.
Stenman, J., & Orpana, A. (2001). Accuracy in
amplification. Nature Biotechnology, 19, 1011-1012.
Taberlet, P., et al. (1996). Reliable genotyping
of samples with very low DNA quantities using PCR. Nucleic Acids Research,
24, 3189-3194.
Tvedebrink, T., et al. (2008). Amplification of
DNA mixtures—missing data approach. Forensic Science International:
Genetics Supplement Series, 1, 664-666.
Tvedebrink, T., et al. (2009). Estimating the
probability of allelic drop-out of STR alleles in forensic genetics.
Forensic Science International: Genetics, 3, 222-226.
Tvedebrink, T., et al. (2011). Statistical model
for degraded DNA samples and adjusted probabilities for allelic drop-out.
Forensic Science International: Genetics, (in press).
Tvedebrink, T., et al. (2011). Allelic drop-out
probabilities estimated by logistic regression – further considerations and
practical implementation. Forensic Science International: Genetics,
(in press).
Walsh, P.S., et al. (1992).
Preferential PCR amplification of alleles: Mechanisms and solutions. PCR
Methods and Applications, 1, 241-250.
Weiler, N.E.C., et al. (2011). Extending PCR
conditions to reduce drop-out frequencies in low template STR typing including
unequal mixtures. Forensic Science International: Genetics,
(in press).
Estimating the Number
of Contributors
Brenner, C.H., et al. (1996). Likelihood ratios
for mixed stains when the number of donors cannot be agreed. International
Journal of Legal Medicine 109, 218-219.
Buckleton, J.S., et al. (1998). Setting bounds for
the likelihood ratio when multiple hypotheses are postulated. Science &
Justice 38, 23-26.
Buckleton, J.S., et al. (2007). Towards
understanding the effect of uncertainty in the number of contributors to DNA
stains. Forensic Science International: Genetics, 1, 20-28.
Clayton, T.M., et al. (2004). A genetic basis for
anomalous band patterns encountered during DNA STR profiling. Journal of
Forensic Sciences, 49, 1207-1214.
Egeland, T., et al. (2003). Estimating the number
of contributors to a DNA profile. International Journal of Legal Medicine,
117, 271-275.
Ge, J., et al. (2011). Comparisons of familial DNA
database searching strategies. Journal of Forensic Sciences,
(in press).
Haned, H., et al. (2011). The predictive value of
the maximum likelihood estimator of the number of contributors to a DNA
mixture. Forensic Science International: Genetics, 5(5), 281-284.
Haned, H., et al. (2011). Estimating the number of
contributors to forensic DNA mixtures: does maximum likelihood perform better
than maximum allele count? Journal of Forensic Sciences, 56(1), 23-28.
Lauritzen, S.L., & Mortera, J. (2002). Bounding
the number of contributors to mixed DNA stains. Forensic Science
International 130, 125-126.
Paoletti, D.R., et al. (2005). Empirical analysis
of the STR profiles resulting from conceptual mixtures. Journal of Forensic
Sciences, 50, 1361-1366.
Paoletti,
D.R., et al. (2011). Inferring the number of contributors to mixed DNA
profiles. IEEE/ACM Trans Comput Biol Bioinform.
(in press).
Perez, J., et al. (2011).
Estimating the number
of contributors to two-, three-, and four-person mixtures containing DNA in
high template and low template amounts. Croatian Medical
Journal, 52(3), 314-326.
Presciuttini, S., et al. (2003) Allele
sharing in first-degree and unrelated pairs of individuals in the Ge. F.I.
AmpFlSTR Profiler Plus database. Forensic Science International, 131,
85-89.
Tvedebrink,
T., et al. (2011).
Identifying contributors of DNA mixtures by means of quantitative information
of STR typing.
Journal of Computative Biology,
(in press).
Mixture Ratios
Clayton, T.M., et al. (1998). Analysis and
interpretation of mixed forensic stains using DNA STR profiling. Forensic
Science International, 91, 55-70.
Cowell, R.G., et al. (2007). Identification and
separation of DNA mixtures using peak area information. Forensic Science
International, 166, 28-34.
Evett, I.W., et al. (1998). Taking account of peak
areas when interpreting mixed DNA profiles. Journal of Forensic Sciences,
43, 62-69.
Frégeau, C.J., et al. (2003). AmpFlSTR Profiler
Plus short tandem repeat DNA analysis of casework samples, mixture samples,
and nonhuman DNA samples amplified under reduced PCR volume conditions (25
microL). Journal of Forensic Sciences, 48, 1014-1034.
Gill, P., et al. (1998). Interpreting simple STR
mixtures using allelic peak areas. Forensic Science International, 91,
41-53.
Perlin, M.W., & Szabady, B. (2001). Linear mixture
analysis: a mathematical approach to resolving mixed DNA samples. Journal
of Forensic Sciences, 46, 1372-1378.
Wang, T., et al. (2006). Least-squares
deconvolution: a framework for interpreting short tandem repeat mixtures.
Journal of Forensic Sciences, 51, 1284-1297.
Statistical
Approaches
Balding, D.J. (2005) Weight-of-evidence for
Forensic DNA Profiles. John Wiley & Sons; see mixture section on pp.
101-110.
Chung, Y.K., et al. (2010). Evaluation of DNA
mixtures from database search. Biometrics, 66, 233-238.
Chung, Y.K., & Fung, W.K. (2011). The evidentiary
values of “cold hits” in a DNA database search on two-person mixture.
Science & Justice, 51(1), 10-15.
Curran, J.M., et al. (1999). Interpreting DNA
mixtures in structured populations. Journal of Forensic Sciences, 44,
987-995.
Curran, J.M., & Buckleton, J. (2010). Inclusion
probabilities and dropout. Journal of Forensic Science, 55, 1171-1173.
Devlin, B. (1993). Forensic inference from genetic
markers. Statistical Methods in Medical Research, 2, 241–262.
Evett, I.W., et al. (1991). A guide to
interpreting single locus profiles of DNA mixtures in forensic cases.
Journal of Forensic Science Society, 31, 41-47.
Evett, I.W., & Weir, B.S. (1998). Interpreting
DNA Evidence: Statistical Genetics for Forensic Scientists. Sunderland,
MA: Sinauer Associates.
Fung, W.K., & Hu,
Y.-Q. (2001). The evaluation of mixed stains from different ethnic origins:
general result and common cases. International Journal of Legal Medicine,
115, 48-53.
Fung, W.K., & Hu,
Y.-Q. (2002). The statistical evaluation of DNA mixtures with contributors
from different ethnic groups. International Journal of Legal Medicine, 116,
79-86.
Fung, W.K., & Hu,
Y.-Q. (2002). Evaluating mixed stains with contributors of different ethnic
groups under the NRC-II Recommendation 4.1. Statistics in Medicine, 21,
3583-3593.
Fung, W.K., & Hu, Y.-Q.
(2008). Statistical DNA Forensics: Theory, Methods and Computation.
Wiley: Hoboken, NJ.
Hu, Y.-Q., & Fung, W.K. (2003). Interpreting DNA
mixtures with the presence of relatives. International Journal of Legal
Medicine, 117, 39-45.
Hu, Y.-Q., & Fung, W.K. (2003). Evaluating
forensic DNA mixtures with contributors of different structured ethnic
origins: a computer software. International Journal of Legal Medicine,
117, 248-249.
Hu, Y.-Q., & Fung, W.K. (2005). Evaluation of DNA
mixtures involving two pairs of relatives. International Journal of Legal
Medicine, 119(5), 251-259.
Ladd, C., et al. (2001). Interpretation of complex
forensic DNA mixtures. Croatian Medical Journal, 42, 244-246.
Puch-Solis, R., et al. (2010). Calculating
likelihood ratios for a mixed DNA profile when a contribution from a genetic
relative of a suspect is proposed. Science & Justice, 50(4),
205-209.
van Niewerburgh, F., et al. (2009). Impact of
allelic dropout on evidential value of forensic DNA profiles using RMNE.
Bioinformatics 25, 225-229.
van Nieuwerburgh, F., et al. (2009). RMNE
probability of forensic DNA profiles with allelic drop-out. Forensic
Science International: Genetics Supplement Series, 2, 462-463.
Weir, B.S., et al. (1997). Interpreting DNA
mixtures. Journal of Forensic Sciences 42, 213-222.
Other Topics
Separating Cells to
Avoid Mixtures
Li, C.-X., et al. (2011). New cell separation
technique for the isolation and analysis of cells from biological mixtures in
forensic caseworks. Croatian Medical Journal, 52(3), 293-298.
Rothe, J., et al. (2011). Individual specific
extraction of DNA from male mixtures--First evaluation studies. Forensic
Science International: Genetics, 5(2), 117-121.
Schneider, H., et al. (2011). Hot flakes in cold cases. International
Journal of Legal Medicine, 125, 543-548.
Software
Bill, M., et al. (2005). PENDULUM-a
guideline-based approach to the interpretation of STR mixtures. Forensic
Science International, 148, 181-189.
Mortera, J., et al. (2003). Probabilistic expert
system for DNA mixture profiling. Theoretical and Population Biology,
63, 191-205.
Oldroyd, N., & Shade, L.L. (2008) Expert assistant
software enables forensic DNA analysts to confidently process more samples.
Forensic Magazine Dec 2008/Jan 2009, 25-28; available at
http://www.forensicmag.com/articles.asp?pid=240.
Perlin, M.W. (2006). Scientific validation of
mixture interpretation methods. Proceedings of Promega’s Seventeenth
International Symposium on Human Identification. Available at
http://www.promega.com/geneticidproc/ussymp17proc/oralpresentations/Perlin.pdf.
Probabilistic
Genotyping Approach
Cowell, R.G., et al. (2010). Probabilistic expert
systems for handling artifacts in complex DNA mixtures. Forensic Science
International: Genetics, 5(3), 202-209.
Curran, J.M. (2008). A MCMC method for resolving
two person mixtures. Science & Justice, 48, 168-177.
Gill, P., & Buckleton, J. (2010). Commentary on:
Budowle B, Onorato AJ, Callaghan TF, Della Manna A, Gross AM, Guerrieri RA,
Luttman JC, McClure DL. Mixture interpretation: defining the relevant features
for guidelines for the assessment of mixed DNA profiles in forensic casework.
J Forensic Sci 2009;54(4):810-21. Journal of Forensic Sciences, 55(1),
265-268.
Perlin, M.W., & Sinelnikov, A. (2009). An
information gap in DNA evidence interpretation. PloS ONE, 4(12),
e8327.
Perlin, M.W., et al. (2009). Match likelihood
ratio for uncertain genotypes. Law, Probability and Risk, 8,
289-302.
Perlin, M.W., et al. (2011).
Validating TrueAllele DNA mixture interpretation. Journal of Forensic
Sciences, (in press). doi:
10.1111/j.1556-4029.2011.01859.x.
General Information
on Mixtures
Clayton, T., & Buckleton, J. (2005). Mixtures.
Chapter 7 in Forensic DNA Evidence Interpretation (Eds.: Buckleton, J.,
Triggs, C.M., Walsh, S.J.), CRC Press, pp. 217-274.
Dror, I.E., & Hampikian,
G. (2011). Subjectivity and bias in forensic DNA mixture interpretation.
Science & Justice, (in press),
doi:10.1016/j.scijus.2011.08.004
Nurit,
B., et al. (2011). Evaluating the prevalence of DNA mixtures found in
fingernail samples from victims and suspects in homicide cases. Forensic
Science International: Genetics, 5, 532-537.
Tomsey, C.S., et al. (2001). Case work guidelines
and interpretation of short tandem repeat complex mixture analysis.
Croatian Medical Journal, 42, 276-280.
Torres, Y., et al. (2003). DNA mixtures in
forensic casework: a 4-year retrospective study. Forensic Science
International, 134, 180-186.
Wetton, J.H., et al. (2011). Analysis and
interpretation of mixed profiles generated by 34 cycle SGM Plus amplification.
Forensic Science International: Genetics, 5(5), 376-380.
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Last Updated:
03/20/2012