TY - JOUR
T1 - Developing a SNP panel for forensic identification of individuals
AU - Kidd, Kenneth K.
AU - Pakstis, Andrew J.
AU - Speed, William C.
AU - Grigorenko, Elena L.
AU - Kajuna, Sylvester L.B.
AU - Karoma, Nganyirwa J.
AU - Kungulilo, Selemani
AU - Kim, Jong Jin
AU - Lu, Ru Band
AU - Odunsi, Adekunle
AU - Okonofua, Friday
AU - Parnas, Josef
AU - Schulz, Leslie O.
AU - Zhukova, Olga V.
AU - Kidd, Judith R.
N1 - Funding Information:
This work was funded primarily by NIJ Grant 2004-DN-BX-K025 to KKK. We thank Applied Biosystems for making their allele frequency database available to us. We would like to thank Jia-Nee Foo and Michael Donnelly for their excellent technical work on initial phases of this project. We also want to acknowledge and thank the following people who helped assemble the samples from the diverse populations: F.L. Black, B. Bonne-Tamir, L.L. Cavalli-Sforza, K.Dumars, J. Friedlaender, D. Goldman, L. Giuffra, K. Kendler, W. Knowler, F. Oronsaye, J. Parnas, L. Peltonen, and K. Weiss. In addition, some of the cell lines were obtained from the National Laboratory for the Genetics of Israeli Populations at Tel Aviv University, Israel, and the African American samples were obtained from the Coriell Institute for Medical Research, Camden, NJ. Special thanks are due to the many hundreds of individuals who volunteered to give blood samples for studies of gene frequency variation.
PY - 2006/12/1
Y1 - 2006/12/1
N2 - Single nucleotide polymorphisms (SNPs) are likely in the near future to have a fundamental role in forensics in both human identification and description. However, considerable research is necessary to establish adequate scientific foundations for these applications. In the case of identification, because allele frequencies can vary greatly among populations, the population genetics of match probabilities is a critical issue. Some SNPs, however, show little allele frequency variation among populations while remaining highly informative. We describe here both an efficient strategy for identifying and characterizing such SNPs, and test that strategy on a broad representation of world populations. Markers with high heterozygosity and little frequency variation among African American, European American, and East Asian populations are selected for additional screening on seven populations that provide a sampling of genetic variation from the world's major geographical regions. Those with little allele frequency variation on the seven populations are then screened on a total of 40 populations (∼2100 individuals) and the most promising retained. The preliminary panel of 19 SNPs, from an initial selection of 195 SNPs, gives an average match probability of <10-7 in most of 40 populations studied and no greater than 10-6 in the most isolated, inbred populations. Expansion of this panel to ∼50 comparable SNPs should give match probabilities of about 10-15 with a small global range.
AB - Single nucleotide polymorphisms (SNPs) are likely in the near future to have a fundamental role in forensics in both human identification and description. However, considerable research is necessary to establish adequate scientific foundations for these applications. In the case of identification, because allele frequencies can vary greatly among populations, the population genetics of match probabilities is a critical issue. Some SNPs, however, show little allele frequency variation among populations while remaining highly informative. We describe here both an efficient strategy for identifying and characterizing such SNPs, and test that strategy on a broad representation of world populations. Markers with high heterozygosity and little frequency variation among African American, European American, and East Asian populations are selected for additional screening on seven populations that provide a sampling of genetic variation from the world's major geographical regions. Those with little allele frequency variation on the seven populations are then screened on a total of 40 populations (∼2100 individuals) and the most promising retained. The preliminary panel of 19 SNPs, from an initial selection of 195 SNPs, gives an average match probability of <10-7 in most of 40 populations studied and no greater than 10-6 in the most isolated, inbred populations. Expansion of this panel to ∼50 comparable SNPs should give match probabilities of about 10-15 with a small global range.
UR - https://www.scopus.com/pages/publications/33750624770
UR - https://www.scopus.com/pages/publications/33750624770#tab=citedBy
U2 - 10.1016/j.forsciint.2005.11.017
DO - 10.1016/j.forsciint.2005.11.017
M3 - Article
C2 - 16360294
AN - SCOPUS:33750624770
SN - 0379-0738
VL - 164
SP - 20
EP - 32
JO - Forensic Science International
JF - Forensic Science International
IS - 1
ER -