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Evaluation of High Density SNP Microarrays to Obtain Phenotypic and Ancestry Information From Skeletal Remains

NCJ Number
Date Published
November 2019
19 pages

This is the Final Summary Overview of the findings and methodology of a research project with the goal of characterizing the performance of a pre-configured panel of ancestry and phenotypically informative SNPs on DNA extracted from a controlled sample of well-documented skeletal cases; and the SNP results were compared with the individual's self-reported data and the project's anthropological analysis of ancestry.


The study used human remains obtained through the Forensic Anthropology Center (FAC) Body Donation Program at the University of Tennessee, Knoxville. The research produced the following four findings: 1) the SNP chip testing results had a significant decline in accuracy when the call rates were below 70 percent; 2) DNA from blood samples yielded accurate phenotype and ancestry predictions at 10 Ng of input DNA, but bones required at least 250 Ng of DNA to have a call rate over 70 percent; 3) phenotypic information was determined for DNA from about 50 percent of the bone samples and 67 percent of the blood samples at a 6-year postmortem interval; and 4) anthropological assessments were mostly consistent with self-reported ancestry, but the non-metric assessments did not capture the phenotypic variation in human groups. This report advises that the greatest potential gain from this research is the demonstration of a new probative tool to assist in identifying human skeletal remains for the forensic and criminal justice community. Information is provided on the dissemination of project results. 2 tables

Date Published: November 1, 2019