Table 1.
Ineligible | Intermediate | Eligible | Chi-2/ kruskal-wallis |
|
---|---|---|---|---|
(n = 29) | (n = 25) | (n = 23) | p | |
Fresh DNA preparation | 0 (0.0 %) | 6 (20.7 %) | 14 (60.9 %) | <0.001 |
Genotyping call rate | 94.7 [80.9–97.3] | 96.6 [94.8–98.3] | 97.7 [96.6–98.5] | <0.001 |
Autosomal variance | 0.2291 [0.115–0.706] | 0.1343 [0.068–0.208] | 0.0870 [0.062–0.114] | <0.001 |
wave noise | 0.0109 [0.002–0.058] | 0.0034 [0.001–0.017] | 0.0015 [0.001–0.013] | <0.001 |
per–SNP noise | 0.2259 [0.082–0.696] | 0.1281 [0.067–0.204] | 0.0811 [0.060–0.164] | <0.001 |
PennCNV, No. of calls | 238 [14–1821) | 103 [34–1024] | 98 [63–165] | 0.053 |
PennCNV, % of deletions | 18.6 [1.3–81.3] | 27.4 [0.7–65.9] | 40.0 [10.3–54.8] | 0.164 |
Birdview No. of calls | 527 [163–8,203] | 225 [154–1,339] | 208 [163–348] | <0.001 |
Birdview (cf > 10) | 15 [2–717] | 12 [5–33] | 14 [4–20] | 0.048 |
Birdview (cf = 10) | 89 [76–145] | 92 [74–105] | 94 [77–102] | 0.209 |
Birdview (cf 2.5–10) | 93 [14–3344] | 19 [10–361] | 21 [11–45] | <0.001 |
Birdview (cf < 2.5) | 370 [52–5665] | 106 [35–857] | 85 [42–194] | <0.001 |