Research Article

svBreak: A New Approach for the Detection of Structural Variant Breakpoints Based on Convolutional Neural Network

Table 1

Description of the extracted twelve features.

FeaturesDescription

Reversely mapped read (RMR)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is 0
Reversely mapped read showing SM (RMSM)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is -1
Reversely mapped read showing MS (RMMS)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is -1
Mapped read showing SM (MSM)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is 0
Mapped read showing MS (MMS)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is 0
The mapped distance between the paired-end reads smaller than insert size (MDS)If such paired-end reads exist on one genome site, the value of this feature on the site is 1; otherwise, it is -1
The mapped distance between the paired-end reads equal to insert size (MDE)If such paired-end reads exist g on one genome site, the value of this feature on the site is 1; otherwise, it is -1
The mapped distance between the paired-end reads larger than insert size (MDL)If such paired-end reads exist on one genome site, the value of this feature on the site is 1; otherwise, it is -1
Previous breakpoint site with mapped reads showing SM (PSM)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is 0
Previous breakpoint site with mapped reads showing MS (PMS)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is 0
Next breakpoint site with mapped reads showing SM (NSM)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is 0
Next breakpoint site with mapped reads showing MS (NMS)If such read exists on one genome site, the value of this feature on the site is 1; otherwise, it is 0