Table 1 Results from the four stand-alone batches represented by one row each. Shows the mean target coverage per n (X), the expected variant allele frequency (VAF) for true heterozygous variants, unfiltered (raw) variant calls, loss-of-function or reported pathogenic (LoF/P) calls, as well as the number and VAF of true calls and known false calls
From: Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants
n in batch | Mean X | Expected VAF | Raw var. calls [mean VAF] | Raw LoF/P var. calls [mean VAF] | Matched LoF/P var. calls [mean VAF] (sensitivity) | False matches [mean VAF] to unique known var. of patients not in batch |
|---|---|---|---|---|---|---|
24 | 83 | 2.08% | 353,182 [0.21%] | 29,415 [0.18%] | 9 [1.80%] out of 9 (100%) | 92 [0.26%] out of 453 (20%) |
48 | 42 | 1.04% | 295,492 [0.24%] | 24,772 [0.20%] | 17 [0.94%] out of 17 (100%) | 61 [0.27%] out of 311 (20%) |
72 | 28 | 0.69% | 299,307 [0.19%] | 25,210 [0.15%] | 25 [0.63%] out of 26 (96%) | 38 [0.22%] out of 168 (23%) |
96 | 21 | 0.52% | 287,905 [0.22%] | 24,118 [0.18%] | 31 [0.51%] out of 31 (100%) | 2 [0.15%] out of 16 (13%) |