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                                                                                                           17

     Table 4
     Sample information and GSA metrics for mock case samples. Any samples not meeting the 0.2 ng DNA input requirement are
     indicated with an asterik (*). Sample Mock13 generated a call rate of 0% despite a high total intensity, and likely represents a
     genotype processing error on the iScan that could be rectified with rescanning or reprocessing.

                                                         DNA Input for GSA    Call Rate      Total       Heterozygosity
     Sample ID               Sample Type
                                                               (ng)              (%)        Intensity          (%)
    Mock1        Proficiency sample (non-sperm fraction)  3.66               88.38        37,298        18.67
    Mock2        Proficiency sample (sperm fraction)   4.37                  93.69        39,976        17.15
    Mock5        Blood stain (~10 years old)           0.85                  68.93        42,793        18.24
    Mock6        Chewed gum (~5 years old)             1.85                  86.65        42,897        18.51
    Mock7        Proficiency sample                    9.61                  83.16        44,983        19.39
    Mock8        Proficiency sample                    5.64                  79.54        44,822        19.84
    Mock9        Tooth                                 62.92                 89.95        46,836        17.83
    Mock10       Fingernail                            2.08                  71.63        43,753        18.38
    Mock13       Buccal sample/Bode collector (non-FTA)  0.36                0.00         25,645        16.85
    Mock19       Bone (phalange)                       0.13*                 39.09        1,853         17.56
    Mock20       Bone (phalange)                       0.13*                 68.19        1,824         24.51
    Mock21       Bone (phalange)                       0.14*                 62.31        1,712         12.34

     Table 5
     Results of the mixture study, including the mixture ratio and associated statistics for each of the mixture samples. Each sample
     was run in duplicate. Total DNA input was 200ng for each of the mixture samples. Concordance was calculated compared to the
     profile of the major donor. No concordance was calculated for the single source samples (NA12878 and NA24631). Concordance
     was assessed to both donors for 1:1 mixtures.

                                    Mixture Ratio                     Heterozygosity    Concordance to
                      Sample ID                        Call Rate (%)
                                 (NA24631:NA12878)                         (%)         Major Donor (%)
                                                      99.29          17.21
                      NA12878    0:1
                                                      99.30          17.21
                                                      99.94          15.89
                      NA24631    1:0
                                                      99.94          15.88
                                                      87.55          19.12             97.92
                      Mix1       3:1
                                                      87.66          19.11             97.85
                                                      97.20          16.21             >99.99
                      Mix2       9:1
                                                      97.16          16.20             >99.99
                                                      81.82          16.46             90.19 ; 93.24
                      Mix3       1:1
                                                      82.36          17.08             89.92 ; 92.90
                                                      90.25          18.85             99.80
                      Mix4       1:3
                                                      90.21          18.79             99.72
                                                      98.45          17.33             >99.99
                      Mix5       1:9
                                                      98.50          17.32             >99.99













         Developmental Validation of the Illumina Infinium Assay using the Global Screening Array (GSA) on the iScan System for use in Forensic Laboratories
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