Reading related to forensic mathematics


DNA analysis Population Genetics
Statistics Famous early papers


DNA Paternity
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DNA Analysis

AABB (1995) Parentage Testing Accreditation and Requirements Manual, Third Edition (1998), American Assocation of Blood Banks

Brinkmann B, Klintschar M, Neuhuber F, Hoehne J, Burkhard R Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat Am. J. Hum. Genet., 62:1408-1415, 1998

Buckleton J, Triggs CM, Walsh SJ Forensic DNA Evidence Interpretation CRC Press, 2005. 534 pages. ISBN 0-84893-3017-3

This book gives a highly readable account of practically all the mathematical and statistical questions in DNA identification analysis. Multiple, often conflicting, ideas are presented in each topic, and explained in Buckleton's accessible way without being more or less technical than necessary. The authors' recommendations are made clear without the tone becoming unpleasantly argumentative or high-handed.

Butler J Forensic DNA Typing – Biology, Technology, and Genetics of STR Markers Second Edition, Academic Press, 2005. ISBN 0-12-147952-8

authorative, readable, and comprehensive at its chosen level – now over 600 pages. This book has become a standard reference text, and is also suitable as a textbook. An excellent and useful book

Dawid & Mortera (1996) Coherent Analysis of Forensic Identification Evidence, J. R. Statist. Soc. B 58(2):425-443

I discuss what is useful and significant to me about this paper.

Elder & Southern (1983) Measurement of DNA Length by Gel Electrophoresis, Analytical Biochem 128:227-231

formulas for gel migration behavior. One method, the "modified local fit" method, is recommended as the most accurate when the ladder is homogeneous. This point has been universally misread as advocating a local fit even for RFLP work (which never uses a homogeneous ladder).

Ellegren, H (2000) Heterogeneous mutation processes in human microsatellite DNA sequences, Nature Genetics 24:400-402

STR mutations are predominately single step. Long alleles tent to contract. Expansions are more common than contractions among dinucleotide repeats, whereas no such trend is evident among tetranucleotide repeats

Endean, DJ (1992) "Mutation" rates, Presented at the Parentage Testing Forum AABB Annual Meeting 10 Nov 1992

Evett IW (1996) Expert evidence and forensic misconceptions of the nature of exact science, Science & Justice 36 : 118-122

forensic scientist "must read", according to Franco Taroni

Evett IW, Weir BS (1998) Interpreting DNA Evidence Sinauer Associates. ISBN 0-87983-155-4

Includes chapters on: Probability, Statistics, Population Genetics, Parentage testing, Mixed stains, Presentation.

This book looks to fill a large gap in the basics (and not-so-basic's) of DNA mathematics.

Fimmers R, Henke L, Henke J, Baur M (1992) How to deal with mutations in DNA testing In: Rittner C, Schneider PM (eds) Advances in forensic haemogenetics 4. Springer Verlag, Berlin, Heidelberg, pp 285-287

Gill Peter, Sullivan Kevin, Werrett David J (1990) The analysis of hypervariable DNA profiles: problems associated with the objective determination of the probability of a match, Hum Genet 85:75-79

Gill P, Werrett D (1990) Interpretation of DNA profiles using a computerised database, Electrophoresis 11:444-448

Gjertson, Mickey, Hopfield, Takenouchi & Terasaki (1988) Calculation of Probability of Paternity Using DNA Sequences, Am J Hum Genet 43:860-869

likelihood ratio (rather than matching and binning) approach to RFLP data evaluation

Henke J, Fimmers R, Baur MP, Henke L (1993) DNA-minisatellite mutations: recent investigations concerning distribution and impact on parentage testing, Int J Leg Med 105:217-222

Morris, Sanda & Glassberg (1989) Biostatistical Evaluation of Evidence from Continuous Allele Frequency Distribution DNA Probes in Reference to Disputed Paternity and Disputed Identity, J Forensic Sci

Pascali VL, Moscetti A, Dobosz M, Pescarmona M, d'Aloja E (1992) Errors in sizing bands of hypervariable DNA profiles on autoradiograms: Are they Gaussian?, Elecrophoresis 13, 341-345

Urquhart A, Kimpton CP, Downdes TJ, Gill P (1994) Variation in Short Tandem Repeat sequences -- a survey of twelve microsatellite loci for use as forensic identification markers, Int J Leg Med 107:13-20

Xin Xu, Mei Peng, Zhian Fang, Xiping Xu (2000) The direction of microsatellite mutations is dependent upon allele length , Nature Genetics 24:396-399

A survey of hundreds of mutations from among hundreds of tetranucleotide loci shows that the likelihood of a contracting mutation increases with allele length, whereas expansion probability is independent of allele length.

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Population Genetics

Lewontin RC, Hartl DL (1991) Population genetics in forensic DNA typing, Science, 20 Dec:1745-1750

Caused a stir. Should have been ignored.

Devlin B, Risch N, Roeder K (1993) Statistical evaluation of DNA fingerprinting: a critique of the NRC's report, Science 259:748-837

Devlin B, Risch N, Roeder K (1990) No Excess of Homozygosity at Loci Used for DNA Fingerprinting, Science 249:1416-1420

"... our test shows that the claim [E Lander, Nature 339, 501 (1989)] of 'spectacular deviations from Hardy-Weinberg equilibrium' is totally unsupported."

Morton NE (1992) Genetic structure of forensic populations, Proc Natl Acad Sci USA 89:2556-2560

National Research Council (1996) The Evaluation of Forensic DNA Evidence, James Crow chair, National Academy Press (recommendation for relatives)

NRC II, "the good one"

National Research Council (1992) DNA Technology in Forensic Science, Victor McCusick chairman, National Academy Press


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Aitken CGG (1995) Statistics and the Evaluation of Evidence for Forensic Scientists, John Riley & Sons

Balding, D.J. (1999) When can a DNA profile be regarded as unique?, Science and Justice 39(4):257-260

Balding DJ, Donnely P (1996) Evaluating DNA Profile Evidence When the Suspect is Identified Through a Database Search, J of For Sci 41(4):603-607

Bulmer MG (1979) Principles of Statistics, Dover Press. Revised edition

A great book. The only good statistics book I know. Costs $9

Guo SW, Thompson EA (1992) Performing the Exact Test of Hardy-Weinberg Proportion for Multiple Alleles, Biometrics 48:359

A practical replacement for the chi-square and other incorrect or inadequate tests of equilibrium. fast becoming a classic paper.

Weir BS, Triggs CM, Starling L, Stowell LI, Walsh KAJ, Buckleton J (1997) Interpreting DNA mixtures, J For Sci 42(2)213-222

Zaykin D, Zhivotovsky L, Weir BS (1995) Exact tests for association between alleles at arbitrary numbers of loci, Genetica 96:169-178

an elegant and useful generalization of the Guo and Thompson paper

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Famous early papers

Botstein D, White RL, Skolnick M, Davis RW (1980) Construction of a Genetic Linkage Map in Man Using Restriction Fragment Length Polymorphisms Am J Hum Genet 32:314-331

"We describe a new basis for the construction of a genetic linkage map of the human genome."

Essen-Möller E (1938) Die Beweiskraft der Ähnlichkeit im Vaterschaftsnachweis -- Theoretische Grundlagen Mitt Anthrop Ges (Wien) 68;9-53. (The evidential value of similarity as proof of paternity, fundamental principles, Mitteilungen der Anthropologischen Gesellschaft)

genesis of the use of likelihood ratios for paternity evaluation

Essen-Möller E, Quensel CE (1939) Zur Theorie des Vaterschaftsnachweises auf Grund von Ähnlichkeitsbefunden Dtsch Z Ges Gerichtl Med 31:70-96. Deutsche Zeitschrift für Gesamte Gerichtliche Medizin

genesis of the misuse of Bayes' Theorem in paternity evaluation

Ihm P and Hummel K (1975) A method to calculate the plausibility of paternity using blood groups results of any relatives. Z. Immunitätsforsch. Exper. Klin. Immunol. 149:405-416

which I owe for my Symbolic Kinship Program

Hummel K, ed. (1981) Biomathematical evidence of paternity, (Beweis der Vaterschaft) Berlin, Springer Hummel, K (1971) Biostatistical opinion of parentage, Gustav Fischer Verlag, Stuttgart. (written in German and English)

Hummel, widely influential authority, systematized paternity computations to the point where they could be performed by recipe. I disagree with his attitude about prior probabilities, but am beginning to appreciate his system of verbal predicates.

Ewens WJ (1972) The sampling theory of selectively neutral alleles, Theor Pop Biol 3, 87-112

There are always more, undiscovered, rare alleles.

Lewontin RC (1972) The apportionment of human diversity, Evolutionary Biology 6:381-398

Wahlund, S (1928) Zusammensetzung von Populationen und Korrelationserscheinungen von Standpunkt der Vererbungslehre aus betrachtet Hereditas 11:65-106. (Composition of Populations and Correlation Patterns from a Genetic Point of View)

Excess homozygosity is a test for Hardy-Weinberg disequilibrium.

Walker RH editor (1983) Inclusion Probabilities in Parentage Testing, AABB

probably out of print, and of mixed quality anyway. But often cited, it does explain paternity computations, and there is little to recommend in its place.

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Crick F, J. molec. Biol 33, 367; 1968 (genetic code must always have been a triplet code)

Jukes TH, J. molec. Evol. 19. 219; 1983. primaeval code must have used 16 anticodons.

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