Sequencing

11th Annual Sequencing, Finishing, and Analysis in the Future Meeting
ASSESSMENT OF SINGLE NUCLEOTIDE
POLYMORPHISM (SNP) GENOTYPING CHEMISTRIES
AND COMPARISON OF PHENOTYPIC AND
ANCESTRY PREDICTION TOOLS FOR FORENSIC
INVESTIGATIVE LEADS
Thursday, 2nd June 14:00 La Fonda Ballroom Talk (OS‐6.03)
Lilly Moreno, Michelle Galusha, Jodi Irwin
Federal Bureau of Investigation
Next Generation Sequencing kits for forensic applications have recently been commercialized and
allow for concurrent amplification of a variety of markers, including hundreds of forensically relevant
single nucleotide polymorphisms (SNPs). These SNPs could be useful not only for identification
purposes but also in generating investigative leads for a variety of scenarios. As a complement to
the chemistries, commercial data analysis packages have been developed to impart weight to the
resulting genotypes and provide ancestry and phenotypic predictions. Thus far, however, the
consistency and robustness of the raw data from these commercial assays have not been thoroughly
examined, and the utility and reliability of the software tools have not been systematically tested.
With SNP data for ancestry and phenotype from 100 samples, we analyzed the performance of
the commercial chemistries. We also compared the SNP genotypes, as well as the ancestry and
phenotype predictions, from different chemistry and software combinations to better understand
and characterize the various workflows. Finally, by comparing the software predictions to the truth
data for all 100 samples, we assessed the practical viability of these markers for aiding forensic
investigations. The results of these studies will be presented.
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