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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