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Identification of Exons with Outlying Coefficient of Variation in Read Depth Across Samples

This study focuses on the coefficient of variation (C.V.) in read numbers from individual exons across nine samples. Exons exhibiting a high outlying C.V. (greater than 1.5 IQR above the upper quartile) indicate the potential presence of one or more samples with aberrant read depths. Exons with such outlying C.V.s were systematically tabulated, and if multiple exons within the same gene displayed this pattern, a manual examination of read depth was conducted to investigate potential copy number variation (CNV) evidence.

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Identification of Exons with Outlying Coefficient of Variation in Read Depth Across Samples

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  1. 0.30 Coefficient of variation of exon read depth 0.25 Outlier exons 0.20 0.15 0.10 0.05 0.00 Supplementary Figure S4. Identification of exons with possible copy number variation Coefficient of variation (C.V.) in read numbers from individual exons across 9 samples. A high outlying C.V. (i.e. greater than 1.5 IQR above upper quartile) suggests the presence of one or more samples with aberrant read depth. Exons with outlying C.V.s are tabulated. If this was seen for several exons of any gene, the read depth was examined manually for evidence of copy number variation.

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