Imbalance value calculation and predictions

A 3'/5' Imbalance value is calculated by subtracting the number of 5' reads from the number of 3' reads, and dividing the result by the sum of all EXPR_CONTROL reads:

(3' reads - 5' reads)/(sum of all EXPRE_CONTROL reads)

We find that imbalance values are a good predictor of the presence of a fusion:

  • In normal samples (without a fusion), imbalance values are very low (either close to zero or negative).

  • In samples that contain a fusion, imbalance values are higher, with gene-specific thresholds shown in the above table.

In some cases, lower imbalance values are also good predictors of the presence of fusions, as shown in the plots linked below.