Technical Literature on Genotyping, including Forensic Literature

Allard, M.W. et al. (2002). Characterization of the Caucasian haplogroups present in the SWGDAM forensic mtDNA dataset for 1771 human control region sequences. Scientific Working Group on DNA Analysis Methods. J. Forensic Sci. 47: 1215-1223.

Anderson, S. et al. (1981) Sequence and organization of the human mitchondrial genome. Nature 290: 457-465.

Andrews, R.M. et al. (1999) Reanalysis and revision of the Cambridge Reference Sequence for human mitochondrial DNA. Nature Genetics 23: 147.

Aris-Brosou, S., and Excoffier, L. (1996) The impact of population expansion and mutation rate heterogeneity on DNA sequence polymorphism. Mol. Biol. Evol. 13: 494-504.

Balding, DJ and Nichols, RA (1994) DNA profile match probability calculations: how to allow for population stratification, relatedness, database selection and single bands. Forensic Science International 64:125-140

Balding, DJ (1995) Estimating products in forensic identification. J. Am. Stat. Assoc. 90:839-844

Balding, D.J. et al., eds. (2001). Handbook of Statistical Genetics. New York:  Wiley.

Bamshad, M., Wooding, S., Salisbury, B. A. & Stephens, J. C. (2004) Deconstructing the relationship between genetics and race. Nature Rev. Genet. 5:598-609.    Validates use of sets of markers to deduce population of origin from Y-STR match.

Barbujani, G., Magagni, A., Minch, E. & Cavalli-Sforza, L.L. (1997).  An apportionment of human DNA diversity. Proc. Natl Acad. Sci. USA 94:4516-4519.|    Finds ~85% of human variation within populations, not between populations.

Butler, J.M. (2001). Forensic DNA Typing: Biology and Technology behind STR Markers. Academic Press, London.

Butler, John M. (2006). Genetics and Genomics of Core Short Tandem Repeat Loci Used in Human Identity Testing. J Forensic Sci. 51/2:253-65.

Cann, R.L., M. Stoneking & A.C. Wilson (1987). Mitochondrial DNA and Human Evolution. Nature 325:31-36.

Carvalho-Silva, D.R. et al. (1999). Divergent Human Y-chromosome Microsatellite Evolution Rates. J Mol Evol 49:204-14.

CODIS STR Loci Data from 41 Sample Populations, J Forensic Sci, 2001, 46(3), 453-489.

Elliott, Carl and Paul Brodwin (2002). “Identity and Genetic Ancestry Tracing” in BMJ 325(7378):1469-1471.

DNA-Interactive (web site). Easy to explore video modules on the many applications of DNA in the words of the founders and practitioners of genetics today.

ENFSI:  European Network of Forensic Science Institutes. ENFSI DNA WG STR Population Database, available STRbASE Population frequency database for cities in European countries. 24 populations, 5,700 profiles. Uses Balding & Nichols Fst correction formula.

Foreman LA, Lambert JA, Evett IW (1998). Regional genetic variation in Caucasians. Forensic Science International 95:27-37.

Forster, P. et al. (2000). A Short Tandem Repeat-based Phylogeny for the Human Y Chromosome. Am J Hum Genet 66:182-96.

Fu, Y.X. (1994) A phylogenetic estimator of effective population size or mutation rate. Genetics 136: 685-92.

Gill, P, Foreman L, Buckelton, JS, Triggs, CM, Allen, H (2003) Analysis of DNA databases across Europe compiled by the ENFSI group; Forensic Science International 131:184-196.

Handt, O. et al. (1996). The Retrieval of Ancient Human DNA Sequences. Am J Hum Genet 59:368-76.

Herrmann B. and S. Hummel (1994). Ancient DNA. Berlin:  Springer.

Heyer E, Puymirat J, Dieltjes P, Bakker E, & de Knijff P.(1997). “Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees,” Hum Mol Genet 6(5):799-803.

Holland, M.M. (1999) Mitochondrial DNA sequence analysis – validation and use for forensic casework. Forensic Sc. Rev. 11: 21-50.

Jewish Population Genetic Data in 20 Polymorphic Loci, FSI, 2002, p52-58.

Jobling, M.A. (2001) In the name of the father: surnames and genetics. Trends Genet. 17, 353-357.

Jobling, M. A. & Tyler-Smith, C. (2003). The human Y chromosome: an evolutionary marker comes of age. Nature Rev. Genet. 4:598-612. |    |

Karafet T. M. et al. (2008). New binary polymorphisms reshape and increase resolution of the human Y chromosomal haplogroup tree. Gen. Res. 18:830-8.

Kayser, M. et al. (2002). Online Y-chromosomal short tandem repeat haplotype reference database (YHRD) for US populations. J. Forensic Sci. 47:513-519.

King, Mary-Clair and Arno G. Motulsky (2002). “Human Genetics and Mapping Human History.” Science 298/5602:2342-43.

Kolman, D.J. and N. Tuross (2000). Ancient DNA Analysis of Human Populations. Am J Phys Anthropol 111:5-23.

Lao, O. et al. (2006). Proportioning Whole-Genome Single-NucleotidendashPolymorphism Diversity for the Identification of Geographic Population Structure and Genetic Ancestry.  American Journal of Human Genetics 78:680–690.

Levedakou (2000). Allele Frequencies for Fourteen STR Loci of the PowerPlex 1.1 and 2.1 Multiplex Systems and Penta D Locus In Caucasians, African-Americans, Hispanics, and Other Populations of the United States of America and Brazil, JFS 46(3):736-761.

Meyer, S. and Von Haeseler, A. (2003) Identifying site-specific substitution rates. Mol. Biol. Evol. 20: 182-89.

Nei, M. (1987). Molecular Evolutionary Genetics. New York:  Columbia UP.

National Research Council. (1996) The evaluation of forensic DNA evidence. National Academy Press, Washington D.C.

Perez-Lezaun et al. (2000). “Allele Frequencies of 13 Short Tandem Repeats in Population Samples From the Iberian Peninsula and Northern Africa,” IJLM, 113,:208-214.

Population Data on the Thirteen CODIS Core Short Tandem Repeat Loci in Arfican Americans, U.S. Caucasians, Hispanics, Bahamians,  Jamaicans, aand Trinidadians, JFS, 1999, 44, 1277-1286.

Population studies on three Native Alaska population groups using STR loci, FSI, 2002, p51-57.

Roewer, L. et al. (2001). Online reference database of Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci. Int. 118:103-111. Describes the Y-chromosomal DNA reference database that has become indispensable to the analysis of Y-STR DNA profiles.

Rosenberg, Noah et al. (2002). “Genetic Structure of Human Populations.” Science 298/1126:2381-85. Individuals from different populations can be genetically more similar than individuals from the same population. Five major continental clusters support early human migration out of Africa etc.

Selden, M. F. et al. (2007). European Population Substructure: Clustering of Northern and Southern Populations  PLoS Genetics 2/9.

Shlush, L. I. et al. (     ). “The Druze: A Population Genetic Refugium of the Near East.”  PLoS ONE 3(5): e2105.

Sigurdardottir, S., et al. (2000). The Mutation Rate in the Human mtDNA Control Region. Am J Hum Genet 66:1599-1609.

Sykes, B. & Irven, C. Surnames and the Y chromosome. Am. J. Hum. Genet. 66, 1417-1419 (2000).

Taylor, R.E. (1994). Radiocarbon Dating of Bone Using Accelerator Mass Spectrometry:  Current Discussions and Future Directions. In Bonnichsen, R. and D. Steele, eds., Methods and Theory for Investigating the Peopling of the Americas. Corvallis: Oregon State University.

Tills, D., et al. (1983) The Distribution of the Human Blood Groups and Other Polymorphisms. Oxford:  Oxford UP.

Torroni A, Bandelt HJ, D’Urbano L, Lahermo P, Moral P, Sellitto D, Rengo C, Forster P, Savontaus ML, Bonne-Tamir B, and Scozzari R (1998) mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe. American Journal of Human Genetics 62:1137-1152. Reasons why Finnic DNA mimics Western European with Native American admixture.

Willuweit S., Roewer L., on behalf of the International Forensic Y Chromosome User Group, Y chromosome haplotype reference database (YHRD): Update, Forensic Science International: Genetics (2007) 2. Abstract.  Release 22 from August 10, 2007. Database consists of 52,655 haplotypes in 464 populations. A subset of about 50% has been analyzed for the loci DYS438 and DYS439. Available online at YHRD ORG

Wilson, M.R., et al. (1993). Guidelines for the Use of Mitochondrial DNA Sequencing in Forensic Science. Crime Laboratory Digest 20:68-77.

D. J. Witherspoon (2007). “Genetic Similarities Within and Between Human Populations.” Genetics 176:351-359. Although studies using small numbers of alleles suggest human variation is greater within than between human populations, large numbers of alleles can permit accurate classification of individuals into populations (i.e., more and more populations in atDNA and ENFSI).

Y Chromosome Consortium (2002). A Nomenclature System for the Tree of Human Y-Chromosomal Binary Haplogroups. Genome Research 12:339-48. Establishes the conventional names for male haplogroups according to the mutations they exhibit. Update in Karafet et al. (2009).