Abstract
The NIST U.S. Population Sample Set consists of 1036 unrelated individuals. There are four population groups represented: African American (n=342), Asian (n=97), Caucasian (n=361), and Hispanic (n=236). These samples have been analyzed using next generation sequencing technology targeting important STR sequences commonly used for human identification. The analysis of SE33 included in this data set required a customized bioinformatic approach to identify and process the allelic information. The locus SE33 is one of the most polymorphic markers used by the forensic community [1]. SE33 is a highly variable locus by length and sequencing has resulted in a four-fold increase in the number of observed alleles. The NIST Population Sample Set has an observed range of 6.3–36 tetranucleotide repeats [2]. It has 52 unique alleles by length and 264 unique alleles by sequence. Analysis of this data set shows 100% concordance with length based methods when flanking sequence is considered. The different categories (patterns) of repeat motifs revealed will be illustrated.
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