Appendix I: Additional References on Statistical Issues in DNA Identification

The following additional references discuss statistical issues that arise when making an identification through DNA analysis.


A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z |


B

Ballantyne, J. "Mass Disaster Genetics." Nature Genetics 15(4) (1997): 329–331.

Bieber, F.R. "Reckoning with the Dead." Harvard Medical Alumni Bulletin 76(2) (2002): 34–37.

Bieber, F.R. "Science and Technology of Forensic DNA Profiling." Lazar, D. (ed.), DNA and the Criminal Justice System. Cambridge, MA: MIT Press, 2004: 23–62.

Biesecker, L.G., Bailey-Wilson, J.E., Ballantyne, J., Baum, H., Bieber, F.R., Brenner, C., Budowle, B., Butler, J.M., Carmody, G., Conneally, P.M., Duceman, B., Eisenberg, A., Forman, L., Kidd, K.K., Leclair, B., Niezgoda, S., Parsons, T.J., Pugh, E., Shaler, R., Sherry, S.T., Sozer, A., and Walsh, A. "DNA Identifications After the 9/11 World Trade Center Attack." Science 310 (2005): 1122–1123.

Bing, D.H. and Bieber, F.R. "Collecting and Handling Samples for Parentage and Forensics DNABased Genetic Testing." Current Protocols in Human Genetics. New York: John Wiley, 1997: 14.2.1–14.2.6.

Bing, D.H., Bieber, F.R., Holland, M.M., and Huffine, E.F. "Isolation of DNA from Forensic Evidence." Current Protocols in Human Genetics. New York: John Wiley, 2000: 14.3.1–14.3.19 (Supplement 26).

Bogenhagen, D. and Clayton, D.A. "The Number of Mitochondrial Deoxyribonucleic Acid Genomes in Mouse L and Human HeLa Cells." Journal of Biological Chemistry 249 (1974): 7791–7795.

Brenner, C.H. "Symbolic Kinship Program." Genetics 145(2) (1997): 535–542.

Brenner, C.H. and, Weir, B.S. "Issues and Strategies in the Identification of World Trade Center Victims." Theoretical Population Biology 63 (2003): 173–178.

Brinkmann, B., Klintschar, M., Neuhuber, F., Huhne, J., and Rolf, B. "Mutation Rate in Human Microsatellites: Influence of the Structure and Length of the Tandem Repeat." American Journal of Human Genetics 62 (1998): 1408–1415.

Budimlija, Z.M., Prinz, M.K., Zelson-Mundorff, A., Wiersema, J., Bartelink, E., MacKinnon, G., Nazzaruolo, B.L., Estacio, S.M., Hennessey, M.J., and Shaler, R.C. "World Trade Center Human Identification Project: Experiences with Individual Body Identification Cases." Croatian Medical Journal 44(3) (2003): 259–63.

Budowle, B. "SNP Typing Strategies." Forensic Science International 146 Suppl. (2004): S139–142.

Budowle, B., Adamowicz, M., Aranda, X.G., Barna, C., Chakraborty, R., Cheswick, D., Dafoe, B., Eisenberg, A., Frappier, R., Gross, A.M., Ladd, C., Lee, H.S., Milne, S.C., Meyers, C., Prinz, M., Richard, M.L., Saldanha, G., Tierney, A.A., Viculis, L., and Krenke, B.E. "Twelve Short Tandem Repeat Loci Y Chromosome Haplotypes: Genetic Analysis on Populations Residing in North America." Forensic Science International 150(1) (2005): 1–15.

Budowle, B., Baechtel, F.S., Comey, C.T., Giusti, A.M., and Klevan, L. "Simple Protocols for Typing Forensic Biological Evidence: Chemiluminescent Detection for Human DNA Quantitation and RFLP Analyses and Manual Typing of PCR Amplified Polymorphisms." Electrophoresis 16(9) (1995): 1559–1567.

Budowle, B., Bieber, F.R., and Eisenberg, A.J. "Forensic Aspects of Mass Disasters: Strategic Considerations for DNA-Based Human Identification." Legal Medicine (Tokyo) 7(4) (2005): 230–243.

Budowle, B., Chakraborty, R., Carmody, G., and Monson, K.L. "Source Attribution of a Forensic DNA Profile." Forensic Science Communications 2(3) (2000): http://www.fbi.gov/about-us/lab/forensic-science-communications/.

Budowle, B., Masibay, A., Anderson, S.J., Barna, C., Biega, L., Brenneke, S., Brown, B.L., Cramer, J., DeGroot, G.A., Douglas, D., Duceman, B., Eastman, A., Giles, R., Hamill, J., Haase, D.J., Janssen, D.W., Kupferschmid, T.D., Lawton, T., Lemire, C., Llewellyn, B., Moretti, T., Neves, J., Palaski, C., Schueler, S., Sgueglia, J., Sprecher, C., Tomsey, C., and Yet, D. "STR Primer Concordance Study." Forensic Science International 124 (2001): 47–54.

Budowle, B., Moretti, T.R., Niezgoda, S.J., and Brown, B.L. "CODIS and PCR-Based Short Tandem Repeat Loci: Law Enforcement Tools." Second European Symposium on Human Identification. Madison, WI: Promega Corporation, 1998: 73–88.

Budowle, B., Planz, J., Campbell, R., and Eisenberg, A. "SNPs and Microarray Technology in Forensic Genetics: Development and Application to Mitochondrial DNA." Forensic Science Review 16 (2004): 22–36.

Budowle, B., Schutzer, S.E., Einseln, A., Kelley, L.C., Walsh, A.C., Smith, J.A.L., Marrone, B.L., Robertson, J., and Campos, J. "Building Microbial Forensics as a Response to Bioterrorism." Science 301 (2003): 1852–1853.

Budowle, B., Sinha, S.K., Lee, H.S., and Chakraborty, R. "Utilization of Y-Chromosome Short Tandem Report Haplotype in Forensic Application." Forensic Science Review 15(2) (2003): 153–162.

Budowle, B., Smith, J., Moretti, T., and DiZinno, J. DNA Typing Protocols: Molecular Biology and Forensic Analysis. Natick, MA: Eaton Publishing, BioTechniques Books, BioForensic Sciences Series, 2000.

Budowle, B. and Sprecher, C.J. "Concordance Study on Population Database Samples Using the PowerPlex™ 16 Kit and AmpFlSTR® Profiler Plus™ Kit and AmpFlSTR® COfiler™ Kit." Journal of Forensic Sciences, 46(3) (2001): 637–641.

Budowle, B. and SWGMGF Members. "Quality Assurance Guidelines for Laboratories Performing Microbial Forensic Work." Forensic Science Communications 5(4) (2003). http://www.fbi.gov/about-us/lab/forensic-science-communications/

Budowle, B., Wilson, M.R., DiZinno, J.A., Stauffer, C., Fasano, M.A., Holland, M.M., and Monson, K.L. "Mitochondrial DNA Regions HVI and HVII Population Data." Forensic Science International 103 (1999): 23–35.

Butler, J.M., Shen, Y., and McCord, B.R. "The Development of Reduced Size STR Amplicons as Tools for Analysis of Degraded DNA." Journal of Forensic Sciences 48(5) (2003): 1054–1064.

C

Campobasso, C.P., Falamingo, R., and Vinci, F. “Investigation of Italy’s Deadliest Building Collapse: Forensic Aspects of a Mass Disaster.” Journal of Forensic Sciences 48(3) (2003): 635–639.

Clayton, T.M., Whitaker, J.P., Fisher, D.L., Lee, D.A., Holland, M.M., Weedn, V.W., Maguire, C.N., DiZinno, J.A., Kimpton, C.P., and Gill, P. “Further Validation of a Quadruplex STR DNA Typing System: A Collaborative Effort to Identify Victims of a Mass Disaster.” Forensic Science International 76(1) (1995): 17–25.

Clayton, T.M., Whitaker, J.P., and Maguire, C.N. “Identification of Bodies from the Scene of a Mass Disaster Using DNA Amplification and Short Tandem Repeat (STR) Loci.” Forensic Science International 76(1) (1995): 7–15.

Collins, P.J., Hennessy, L.K., Leibelt, C.S., Roby, R.K., Reeder, D.J., and Foxall, P.A. “Developmental Validation of a Single-Tube Amplification of the 13 CODIS Loci, D2S1338, D19S433, and Amelogenin: The AmpFlSTR® Indentifiler® PCR Amplification Kit.” Journal of Forensic Sciences 49(6) (2004): 1265–1277.

Cooper, D.N., Smith, B.A., Cooke, H.J., Niemann, S., and Schmidtke, J. “An Estimate of Unique DNA Sequence Heterozygosity in the Human Genome.” Human Genetics 69 (1985): 201–205.

Corach, D., Sala, A., Penacino, G., and Sotelo, A. “Mass Disasters: Rapid Molecular Screening of Human Remains by Means of Short Tandem Repeats Typing.” Electrophoresis 16(9) (1995): 1617–1623.

Cotton, E.A., Allsop, R.F., Guest, J.L., Frazier, R.R., Koumi, P., Callow, I.P., Seager, A., and Sparkes, R.L. “Validation of the AmpFlSTR SGM Plus System for Use in Forensic Casework.” Forensic Science International 112(2–3) (2000): 151–161.

Cowell, R.G. and Mostad, P. “A Clustering Algorithm Using DNA Marker Information for Sub-Pedigree Reconstruction.” Journal of Forensic Sciences 48(6) (2003): 1239–1248.

D

Daoudi, Y., Morgan, M., Diefenbach, C., Ryan, J., Johnson, T., Conklin, G., Duncan, K., Smigielski, K., Huffine, E., Rankin, D., Mann, R., Holland, T., McElfresh, K., Canik, J., Armbrustmacher, V., and Holland, M. "Identification of the Vietnam Tomb of the Unknown Soldier: The Many Roles of Mitochondrial DNA." Presented at the Ninth International Symposium on Human Identification, Madison, WI: Promega Corporation, 1998: http://www.promega.com/geneticidproc/ussymp9proc/abstracts/ab72.pdf.

DNA Advisory Board. "Statistical and Population Genetics Issues Affecting the Evaluation of the Frequency of Occurrence of DNA Profiles Calculated from Pertinent Population Database(s)." Forensic Science Communications 2(3) (2000): http://www.fbi.gov/about-us/lab/forensic-science-communications/.

E

Egeland, T., Mostad, P.F., and Olaisen, B. “A Computerized Method for Calculating the Probability of Pedigrees from Genetic Data.” Science & Justice 37(4) (1997): 269–274.

Egeland, T., Mostad, P.F., Mevag, B., and Stenersen, M. “Beyond Traditional Paternity and Identification Cases: Selecting the Most Probable Pedigree.” Forensic Science International 110(1) (2000): 47–59.

Evett, I.W. and Weir, B.S. Interpreting DNA Evidence. Sunderland, MA: Sinauer Associates, Inc., 1998.

G

Gabriel, M.N., Calloway, C.D., Reynolds, R.L., and Primorac, D. “Identification of Human Remains by Immobilized Sequence-Specific Oligonucleotide Probe Analysis of mtDNA Hypervariable Regions I and II.” Croatian Medical Journal 44(3) (2003): 293–298.

Gill, P., Ivanov, P.L., Kimpton, C., Piercy, R., Benson, N., Tully, G., Evett, I., Hagelberg, E., and Sullivan, K. “Identification of the Remains of the Romanov Family by DNA Analysis.” Nature Genetics 6 (1994): 130–135.

Giusti, A.M. and Budowle, B. “Chemiluminescence- Based Detection System for Human DNA Quantitation and Restriction Fragment Length Polymorphism (RFLP) Analysis.” Applied and Theoretical Electrophoresis 5 (1995): 89–98.

H

Hall, T.A., Budowle, B., Jiang, Y., Blyn, L., Eshoo, M., Sannes-Lowery, K.A., Sampath, R., Drader, J.J., Hannis, J.C., Harrell, P., Samant, V., White, N., Ecker, D.J., and Hofstadler, S.A. “Base Composition Analysis of Human Mitochondrial DNA Using Electrospray Ionization Mass Spectrometry: A Novel Tool for the Identification and Differentiation of Humans.” Analytical Biochemistry 344 (1) (2005): 53–69.

Hellmann, A., Rohleder, U., Schmitter, H., and Wittig, M. “STR Typing of Human Telogen Hairs—A New Approach.” International Journal of Legal Medicine 114 (2001): 269–273.

Hochmeister, M.N., Budowle, B., Jung, J., Borer, U.V., Comey, C.T., and Dirnhofer, R. “PCR-Based Typing of DNA Extracted from Cigarette Butts.” International Journal of Legal Medicine 104(4) (1991): 229–233.

Holland, M.M., Cave, C.A., Holland, C.A., and Bille, T.W. “Development of a Quality, High Throughput DNA Analysis Procedure for Skeletal Samples to Assist with the Identification of Victims from the World Trade Center Attacks.” Croatian Medical Journal 44(3) (2003): 264–272.

Holland, M.M., Fisher, D.L., Mitchell, L.G., Rodriquez, W.C., Canik, J.J., Merril, C.R., and Weedn, V.W. “Mitochondrial DNA Sequence Analysis of Human Skeletal Remains: Identification of Remains from the Vietnam War.” Journal of Forensic Sciences 38(3) (1993): 542–553.

Huffine, E., Crews, J., Kennedy, B., Bomberger, K., and Zinbo, A. “Mass Identification of Persons Missing from the Break-Up of the Former Yugoslavia: Structure, Function, and Role of the International Commission on Missing Persons.” Croatian Medical Journal 42(3) (2001): 271–275.

K

Kahana, T., Freund, M., and Hiss, J. “Suicidal Terrorist Bombings in Israel—Identification of Human Remains.” Journal of Forensic Sciences 42(2) (1997): 260–264.

Kayser, M., Roewer, L., Hedman, M., Henke, L., Henke, J., Brauer, S., Krüger, C., Krawczak, M., Nagy, M., Dobosz, T., Szibor, R., de Knijff, P., Stoneking, M., and Sajantila, A. “Characteristics and Frequency of Germline Mutations at Microsatellite Loci from the Human Y Chromosome, as Revealed by Direct Observation in Father/Son Pairs.” American Journal of Human Genetics 66(5) (2000): 1580–1588.

Kayser, M. and Sajantila, A. “Mutations at Y–STR Loci: Implications for Paternity Testing and Forensic Analysis.” Forensic Science International 118(2–3) (2001): 116–121.

Krenke, B.E., Tereba, A., Anderson, S.J., Buel, E., Culhane, S., Finis, C.J., Tomsey, C.S., Zachetti, J.M., Masibay, A., Rabbach, D.R., Amiott, E.A., and Sprecher, C.J. “Validation of a 16-Locus Fluorescent Multiplex System.” Journal of Forensic Sciences 47(4) (2002): 773–785.

Kruglyak, L. and Nickerson, D.A. “Variation is the Spice of Life.” Nature Genetics 27(3) (2001): 234–236.

L

Ladd ,C., Lee, H., Yang, N. and Bieber, F.R. “Interpretation of Complex Forensic DNA Mixtures.” Croatian Medical Journal 42(3) (2001): 244–246.

Leclair, B., Fregeau, C.J., Bowen, K.L., and Fourney, R.M. “Enhanced Kinship Analysis and STR-Based DNA Typing for Human Identification in Mass Fatality Incidents: The Swissair Flight 111 Disaster.” Journal of Forensic Sciences 49(5) (2004): 939–953.

Leclair, B., Shaler, R., Carmody, G.R., Eliason, K., Hendrickson, B.C., Judkins, T., Norton, M.J., Sears, C., and Scholl, T. “Bioinformatics and Human Identification in Mass Fatality Incidents: The World Trade Center Disaster.” Submitted to Journal of Forensic Sciences, 2006.

Leibelt, C., Budowle, B., Collins, P., Daoudi, Y. Moretti, T., Nunn, G., Reeder, D., and Roby, R. “Identification of a D8S1179 Primer Binding Site Mutation and the Validation of a Primer Designed to Recover Null Alleles.” Forensic Science International 133(3) (2003): 220–227.

Li, C.C. and Sacks, L. “The Derivation of Joint Distribution and Correlation Between Relatives by the Use of Stochastic Matrices.” Biometrics 10(3) (1954): 347–360.

Lorente, J.A., Entrala, C., Alvarez, J.C., Lorente, M., Carrasco, F., Arce, B., Heinrich, B., Budowle, B., and Villanueva, E. “Social Benefits of Noncriminal Genetic Databases: Missing Persons and Human Remains Identification.” International Journal of Legal Medicine 116(3) (2002): 187–190.

Ludes, B., Tracqui, A., Pfitzinger, H., Kintz, P., Levy, F., Disteldorf, M., Hutt, J.M., Kaess, B., Haag, R., Memheld, B., et al. “Medico-Legal Investigations of the Airbus A230 Crash Upon Mount Ste-Odile, France.” Journal of Forensic Sciences 39(5) (1994): 1147–1152.

Lutz, S., Weisser, H.J., Heizmann, J., and Pollak, S. “mtDNA as a Tool for Identification of Human Remains.” International Journal of Legal Medicine 109(4) (1996): 205–209.

M

Mandrekar, P.V., Krenke, B.E., and Tereba, A. “DNA IQ™: The Intelligent Way to Purify DNA.” Profiles in DNA 4(3) (2001): 16.

Mandrekar, P.V., Flanagan, L., and Tereba, A. “Forensic Extraction and Isolation of DNA from Hair, Tissue and Bone.” Profiles in DNA 5(2) (2002): 11–13.

Meyer, H.J. “The Kaprun Cable Car Fire Disaster—Aspects of Forensic Organisation Following a Mass Fatality with 155 Victims.” Forensic Science International 138(1–3) (2003): 1–7.

N

National Commission on the Future of DNA Evidence. The Future of Forensic DNA Testing: Predictions of the Research and Development Working Group. Washington, DC: U.S. Department of Justice, Office of Justice Programs, National Institute of Justice, 2000: http://www.ncjrs.gov/pdffiles1/nij/183697.pdf.

National Research Council Committee on DNA Forensic Science. The Evaluation of Forensic DNA Evidence. Washington, DC: National Academy Press, 1996.

O

Olaisen, B., Stenersen, M., and Mevag, B. “Identification by DNA Analysis of the Victims of the August 1996 Spitsbergen Civil Aircraft Disaster.” Nature Genetics 15(4) (1997): 402–405.

Olson, K.B. “Aum Shinrikyo: Once and Future Threat.” Emerging Infectious Disease 5(4) (1999): 513–516.

S

Saiki, R.K., Scharf, S., Faloona, F., Mullis, K.B., Horn, G.T., Erlich, H.A., and Arnheim, N. “Enzymatic Amplification of Beta-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia.” Science 230(4732) (1985): 1350-1354.

Sajantila, A., Lukka, M., and Syvanen, A.C. “Experimentally Observed Germline Mutations at Human Micro- and Minisatellite Loci.” European Journal of Human Genetics 7(2) (1999): 263–266.

T

Traver, M. “Numeric Statements of the Strength of the Genetic Evidence.” Guidance for Standards for Parentage Testing Laboratories. Bethesda, MD: American Association of Blood Banks, 2004.

Tsukada, K., Takayanagi, K., Asamura, H., Ota, H., and Fukushima, H. “Multiplex Short Tandem Repeat Typing in Degraded Samples Using Newly Designed Primers for the TH01, TPOX, CSF1PO, and vWA Loci.” Legal Medicine (Tokyo) 4(4) (2002): 239–245.

V

Venter, J.C., Adams, M.D., Myers, E.W., Li, P.W., Mural, R.J., Sutton, G.G., Smith, H.O., Yandell, M., et al. “The Sequence of the Human Genome.” Science 291(5507) (2001): 1304–1351.

W

Walsh, S. “Commentary on Kline, M.C., Jenkins, B., Rodgers, S. Non-amplification of a vWA Allele.” Journal of Forensic Sciences 43(5) (1998): 1103–1104.

Wang, D.G., Fan, J.B., Siao, C.J., Berno, A., Young, P., Sapolsky, R., Ghandour, G., Perkins, N., et al. “Large Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome.” Science 280(5366) (1998): 1077–1082.

Waye, J.S., Presley, L., Budowle, B., Shutler, G.G., and Fourney, R.M. “A Simple Method for Quantifying Human Genomic DNA in Forensic Specimen Extracts.” BioTechniques 7(8) (1989): 852–855.

Weir, B.S. Genetic Data Analysis II. Sunderland, MA: Sinauer Associates, Inc., 1996.

Wiegand, P. and Kleiber, M. “Less is More—Length Reduction of STR Amplicons Using Redesigned Primers.” International Journal of Legal Medicine 114(4–5) (2001): 285–287.

Wilson, M.R., DiZinno, J.A., Polanskey, D., Replogle, J., and Budowle, B. “Validation of Mitochondrial DNA Sequencing for Forensic Casework Analysis.” International Journal of Legal Medicine 108(2) (1995): 68–74.

Wilson, M.R., Polanskey, D., Butler, J., DiZinno, J.A., Replogle, J., and Budowle, B. “Extraction, PCR Amplification, and Sequencing of Mitochondrial DNA from Human Hair Shafts.” BioTechniques 18(4) (1995): 662–669.