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. 2014 Oct 23;10(10):e1004646. doi: 10.1371/journal.pgen.1004646

Table 3. UCEs are depleted from pooled de nov°CNVs, enriched in pooled cancerCNAs, and depleted from pooled somaticCNVs and high passage iPSCNVs.

Observed overlap Expected overlap (bp) Result
Dataset Number of UCEs bp Mean Standard deviation Proportion P value obs/exp Outcome
de nov° CNVs
Pooled de nov° CNVs a 4 967 2447 866 0.024 0.044 0.395 Depleted
cancerCNAs
Pooled cancerCNAs b 642 171554 157016 3963 0.000 1.2×10−4 1.093 Enriched
TCGARN 2008 60 15670 16549 2091 0.345 0.337 0.947 Neither
Walter 2009 121 32312 29544 2652 0.143 0.148 1.094 Neither
Beroukhim 2010 172 46060 47042 3270 0.383 0.382 0.979 Neither
Taylor 2010 84 23669 19685 2384 0.058 0.047 1.202 Neither
TCGARN 2011 259 67447 57988 3689 0.005 0.005 1.163 Enriched
Curtis 2012 51 13893 11872 1869 0.141 0.140 1.170 Neither
TCGARN 2012 breast 156 42421 26852 2677 0.000 3.0×10−9 1.580 Enriched
TCGARN 2012 colon 26 6813 10016 1672 0.021 0.028 0.680 Neither
TCGARN 2012 squamous 218 58477 51127 3424 0.020 0.016 1.144 Enriched
Robinson 2012 60 16125 11569 1844 0.010 0.007 1.394 Enriched
Walker 2012 893 240548 233338 1433 0.000 2.4×10−7 1.031 Enriched
Zhang 2012 37 10028 12325 1934 0.120 0.118 0.814 Neither
TCGARN 2013 83 21061 28531 2709 0.001 0.003 0.738 Depleted
somaticCNVs
Pooled somaticCNVs c 487 130694 142562 4019 0.004 0.002 0.917 Depleted
Forsberg 2012 23 6576 4195 1061 0.018 0.012 1.568 Enriched
Jacobs 2012 265 69836 70178 3831 0.459 0.464 0.995 Neither
Laurie 2012 264 69935 67605 3559 0.259 0.256 1.034 Neither
McConnell 2013 221 60353 70021 3747 0.005 0.005 0.862 Depleted
iPSCNVs
Pooled low passage iPSCNVs d 15 3522 3235 1001 0.358 0.387 1.089 Neither
Pooled medium passage iPSCNVs d 13 3633 6006 1283 0.020 0.032 0.605 Neither
Pooled high passage iPSCNVs d 6 1279 3912 1033 0.003 0.005 0.327 Depleted
Hussein 2011 low passage 13 2926 3086 943 0.466 0.433 0.948 Neither
Hussein 2011 medium passage 12 3428 5196 1240 0.069 0.077 0.660 Neither
Hussein 2011 high passage 1 211 1980 761 0.001 0.010 0.107 Depleted
Laurent 2011 high passage 5 1068 1962 768 0.108 NA 0.544 NA

Here, we show the relationship between 896 HMR-HDM-HC UCEs and de nov°CNVs, cancerCNAs, somaticCNVs, and iPSCNVs, reporting the results for pooled datasets as well as all individual datasets that met our requirement for 20 Mb of coverage (Table S3). Individual CNV and CNA datasets are named according to the first author and the year of the study.

a

The pooled de nov°CNV dataset included datasets from Xu 2008 [69], Itsara 2010 [70], Malhotra 2011 [71], and Sanders 2011 [72], which were too small to be considered on their own.

b

The pooled cancerCNA dataset included all the cancerCNA datasets listed in this table, except for Walker 2012 [87], which was excluded to avoid bias from its extensive coverage of the genome, and also included the datasets Bullinger 2010 [78], Nik-Zainal 2012 [85], Holmfeldt 2013 [89], and Weischenfeldt 2013 [91], which were too small to be considered on their own.

c

The pooled somaticCNV dataset included the four somaticCNV datasets listed in this table as well as Piotrowski 2008 [63] and O'Huallachain 2012 [67], which were too small to be considered on their own.

d

The pooled iPSCNV datasets were comprised of CNVs from low, medium, and high passage iPS cells from the two datasets Hussein 2011 [100] and Laurent 2011 [98]. Proportion, P-value, and obs/exp, as described for Table 1. Outcome: determined with a one-tailed test (α = 0.05) for the pooled de nov°CNV dataset because dataset was analyzed prior to our discovery that CNVs can be enriched for UCEs; all other assessments of depletion or enrichment carried out with a two-tailed test (P≤0.025 in each tail for an overall α of 0.05). NA (not applicable): expected overlaps not normally distributed, precluding a Z-test.