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Exact(6)

In this work, a CNV region (CNVR) was defined based on the smoothed M values: three or more consecutive probes whose M values were all greater than 0.5 ("gain") or all less than −0.5 ("loss") delineated a core region, which extended additional 5 Kb at both sides to define a CNVR.

Deletions involving five or more consecutive probes were considered as true CNV.

All peaks spanning eight or more consecutive probes (∼900 bp) over a twofold ratio change were assigned a FDR value.

All peaks spanning four or more consecutive probes (>∼1200 bp) over a two-fold increase were analysed and assigned an FDR value (using 100 iterations).

No individual had two or more consecutive probes showing deletions or duplications within SHANK3, apart from the positive control, which showed all seven probes deleted from exon 9 in SHANK3 to the telomere.

All indels affected 3 or more consecutive probes, with the exception of 10 deletions (~1% of the indels) that were detected by just 2 probes with very negative log2 ratios.

Similar(54)

Peaks were called as present when two or more consecutive probe signals were greater than 2.5 standard deviations above the mean.

A DHS was defined as two or more consecutive positive probes whose central positions are separated by less than 50 bp.

A DHS was subsequently defined as two or more consecutive positive probes whose central positions were separated by less than 50 bp.

It would thus be of interest to fully assess the CAS in this child using the Madison Speech Assessment Protocol and other relevant speech batteries suggested by Raca et al. Using the array-CGH data, we catalogued all observed imbalances that spanned four or more consecutive oligonucleotide probes with values outside the log10 Cy-dye threshold ratios for the proband.

A copy number alteration was defined as exceeding the significance threshold of 1 × 10−6 in a minimum of 5 consecutive probes and in more than 30% of the samples.

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