TABLE 3.
Concordance of variants identified in technical replicates separated by location
Concordant Callsa |
Discordant Callsb |
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Sample ID | Input DNA | Exon: Coding | Exon: UTR | Noncoding | Total | Exon: Coding | Exon: UTR | Noncoding | Total |
3344 | Genomic | 89 | 135 | 245 | 469 | 1 | 9 | 6 | 16 |
WGA | 86 | 134 | 240 | 460 | 4 | 13 | 11 | 28 | |
3645 | Genomic | 100 | 135 | 236 | 471 | 0 | 12 | 8 | 20 |
WGA | 100 | 126 | 235 | 461 | 0 | 19 | 11 | 30 | |
3732 | Genomic | 96 | 160 | 245 | 501 | 0 | 12 | 6 | 18 |
WGA | 93 | 151 | 238 | 482 | 3 | 20 | 14 | 37 | |
4221 | Genomic | 98 | 132 | 247 | 477 | 0 | 6 | 9 | 15 |
WGA | 96 | 130 | 247 | 473 | 2 | 10 | 6 | 18 | |
4270 | Genomic | 83 | 122 | 221 | 426 | 0 | 9 | 8 | 17 |
WGA | 81 | 117 | 219 | 417 | 2 | 14 | 9 | 25 | |
4667 | Genomic | 93 | 124 | 226 | 443 | 2 | 8 | 12 | 22 |
WGA | 89 | 114 | 224 | 427 | 5 | 18 | 11 | 34 |
Noncoding refers to intronic and intergenic variants.
Concordant calls refer to a variant being identified and identical genotype called between the original and replicate sample.
Discordant calls refer to a variant identified in both samples but genotype was called differently, or the variant was called in either the original or replicate sample.